Category Archives: Human Genetics

But a newphenomenon is also developing as a common occurrence -- multiple Pit Bulls attacking as a pack.

Colleen Lynn, founder ofDogsBite.org,which tracks and investigates fatal dog maulings, reports that,of all fatalities,65% involved two or more dogs, a reversal from early CDC (Centers for Disease Control) study years when 70% of fatalities involved a single dog.

Could the number of dogs involved in attacks listed below signal that these expanding policies -- which allow unlimited adoption, ownership, or keeping of Pit Bulls per household be influencing and changing the genetics of Pit Bulls -- and not in a good way?

The following is a single Pit Bull attack that occurred recently.I am providing it to show what was required to stop this dog in an enclosed location with animal-handling experts present.Imagine the terror and damage if there had been more Pit Bulls involved:

Attacking Pit Bull Shot in Animal Shelter to Save Life of Supervisor

Here is a terrifying example of the relentless nature of a Pit Bull attack. It was recorded on the kennel video in the Oakland County animal shelter and reported this week by theDetroit Free Press. The severely injured supervisor was a 25-year veteran of animal care and control.

The four-year-old Pit Bull involved, Roscoe, and had been surrendered after he attacked an adult and two children in the family that had reportedly loved and raised him since a puppy.

"When three Oakland County dog shelter workers couldnt dislodge a ragingpit bull mauling the kennel supervisor, a policeofficer shot thedog in the head, saving the supervisor. . . Yet, the 80-pound dog after being shot at point-blank range, between the eyes, seemingly rose from the dead, the Oakland County spokesman said.

The officer returned to the hallway of the six kennels housing dangerous dogs and found that the pit bull had regained consciousness and "now posed a fresh threat."

The officer saw it was now a wounded animal and the possible threat played through his mind, so he immediately ended its suffering with a second shot that was fatal," the spokesperson said.

The report states that,even after the incident was conveyed to the family, the mother refused to give permission to euthanize the dog, blaming the serious attack on herself and her two children to the fact she had been "talking too loud."

Roscoe had also previously bitten a shelter worker who took him out for a walk.

RECENT ATTACKS BY MULTIPLE PIT BULLS

Three Pit Bulls Kill Womanin Houston, TX on December 21, 2019.DogsBite.orgreports one woman is dead and another severely injured after a vicious dog attack in north Houston, according to police. . .KTRK reports thatall three dogs are pit bulls.

Woman Attacked by 6 Pit Bulls While Walking Dog. . .

Apr 26, 2019 -Awomanis recovering after police say she wasattackedbysix pit bullswhile walking her daughter's dog Wednesday night in Taunton, Massachusetts.. . .The officer then witnessedsix pit bullsfollowing andattacking51-year-old Rochelle Silva.

4 Pit Bulls Attack Woman Walking Dog. . .

Jun 24, 2019 -Awomanwas recovering after she wasattackedbyfour pit bullswhile walking her roommate's dog in Calgary, Canada, on Friday night.

Woman critically injured in Maryland pit bull attack

Nov 14, 2019 -Awomanwas critically injured in anattackby twopit bulls. . .Helicopters were used to searchforthe dog. . .

5 Pit Bulls Attack Woman On Bike, 'Tore Her Apart', Husband. . .

Apr 2, 2019 -A Florida woman underwent surgery Monday after suffering serious injuries following anattackbyfive pit bullson March 28.

Five Pit Bulls Maul Philadelphia Toddler to Death

Aug 2, 2018 -A 2-year-old boy was mauled to death byfive pit bullsat his aunt's house in the Port Richmond area of Philadelphia, local police have said. Officers responding to the incident at around5:35 p.m. Wednesday fired at the dogs to stop theattack, killing one and injuring two others, reported WPVI.

For shocking and informative quick-stats and graphs, see:Deadly Dog Attacks.

Read also:CA Hits Record High in Fatal Dog Attacks in 2019 -- Are Animal ControlPolicies Protecting Us?

HISTORY:PIT BULLSUSED FOR FIGHTING - NOT NANNY DOGS

Human aggression by Pit Bulls was not acceptable in past generations, including by dog fighters.The early 1900's photos which are now purported to be "Nanny Dogs" were actually ads used to show that the breeding stock by a dog man was NOT human aggressive and would not attack a human at a dog fight/match -- it did not mean they were house pets.

Dog fighting was legal in the U.S. at that time and advertising Pits bred for that purpose was rampant. They were bred to attack another dog without provocation andkill quickly and efficiently. They werenotintended to be released into society.(Google 'Pit Bulls for Sale' ads in the early 1900's inDog Fanciermagazine.)

PIT BULLS THAT ATTACK HUMANS NOT KEPT BY DOG FIGHTERS

Following an ad for pups from the line of "Old Family Red Noses and "Red Devils" with photos of "Wilder Red Inferno" and "Mean Girl, " here areexcerptsfrom an op-ed that appears in theAmerican Pit Bull Terrier Gazette(FALL 1997).

SIMPLY RETROSPECT OR RESPECT?(by Charlie Stephens,President, Lone Star APBT Club.)

"LET'S LOOK AT THE 1920'S AND1930'S. Things were very different then.We went to church on Sunday with no thought of burglary or theft, and the dog we had didn't dare bite a human being.If a dog, any dog, was aggressive toward humans it was killed.No, not gassed or injected, it was shot! It was a simple time and that type of dog simply was not tolerated.And this was especially true for the American Pit Bull Terrier. Dogmen of the 1920's and '30's would not allow it!

Today, however, it is different.People are scared, real scared, and they believe they need protection.So, they go out and buy a dog.

(He mentions five incidents of APBT attacks.)

In closing, I make a plea to all dog owners of America. Please take responsibility for your dog. . . If you must own a dog that is human aggressive, then keep it away from humans.And, keep it away from windows too.

PIT BULLS/FIGHTING DOGS CHANGED BY ADAPTATION

AJanuary 18, 2019 article, "The so-called modern bloodlines,"byNeylor Zaurisio, discusses and documents his personal study ofhow, since the 1800's, modern living necessitated adaptations that changed the name of the breed and also affected its size.

"In the late 1800's,with the industrial revolution, thousands of families migrated from rural areas to large industrial centers in search of employment.

Some of these families had as a form of extra income and tradition sold and bet on fighting dogs, Pit Bull dogs. When they saw the opportunity of a better future in the big cities they started to move and took their dogs with them, changing drastically from a habitat where they developed completely, to small spaces in apartments and other cheap options where they were confined most of the time, [loss of] exercise and losing their habit, combined with the selection for smaller dogs, caused a visible reduction in muscular and bone structure.

PIT BULLS HAVE ALSO ADAPTED BY SELECTIVE BREEDING

Pit Bull genetics have been changed several times.In theUnited Kingdom, bull-and-terriers were used inblood sports, such as,bull baitingandbear baitinguntil this was officially eliminated in 1835 when Britain introducedanimal welfare laws.

Sincedog fightingis cheap to organize and far easier to conceal from the law, blood-sport enthusiasts begin to develop dogs that could be pittedagainst each other.

DOG FIGHTERS OPPOSE BSL AND "MANDATORY SPAY/NEUTER"

Dog fighting was used as both a blood sport (usually involving gambling) and a way to continue to test the gameness and maintain fighting blood lines. Maintaining these bloodlines is the reason dog fighters do NOT want "Breed Specific Legislation" (BSL) nor mandatory spay/neuter laws.

If this centuries-old lineage is destroyed, it cannot be replicated.The characteristic of "gameness" means the animals will attack and kill without provocation--includingits own breed.It also means it will continue to fight until it is dead or physically incapable of movement.

PIT BULLS HISTORICALLY KEPT IN ISOLATION

Pit Bulls have traditionally been kept as the only dog in a household, chained or caged in isolation because of their propensity to attack/kill. (Dog fighters keep them caged or "tied out" on chains in their yards.A yard can be any size property, and many keep dozens of dogs -- each far enough from the others to be unable to engage physically. They did not indulge in "play groups."

MULTI-DOG HOUSEHOLDS, NO BSL AND NO PET LIMITS

The "No Kill" movement as prescribed by Best Friends Animal Society has imposed rigid rules for animal shelters and animal owners regardingeuthanizing a dangerous dog, and many veterinarians are afraid to take this risk because of the criticism that can be generated on the Internet.

Prior to this, rules and laws of animal ownership were created and enforced for public and animal health and safety, animals were limited to the number that did not create excessive noise and exhibit behavior issues that decreased or threatened the safety and quality of life of a community.

Best Friends policies links:

Save Them All - Best Friends Animal Society- Best Friends Animal Societyis leading the way.

Best Friends Position Statements on Issues -BestFriendsis opposed tomandatory spayandneuterlaws.

Dog Breed Labels | Best Friends Animal Society-Apr 6, 2018-Labelingshelterdogs as a particularbreedis problematic.Shelterstaff are wrong a majority of the time when identifying a dogs prominent breed. . .

Pet Limit Laws in Los Angeles | The Best Friends Blog

Dec 14, 2010 -Los Angeles is looking to raise itsanimal limit laws. Five reasons whypet limitsare a bad idea in the first place.

Pit Bulls, Dog Breed Discrimination & BSL | Best Friends.

One ofBest Friends' primary goals is to end pit bull breed discrimination,breed-specific legislation(BSL) and the killing of pit bulls in shelters.

Read also:Best Friends Animal Society in Dog Fight over Shock Collars(Nov 25, 2019)

MULTIPLEPIT BULLSMAY BE THE NEXT GATHERING STORM

In 1990, Donald H. Clifford, DVM, and two other noted staff members at the medical College of Ohio, published THE PIT BULL DILEMMA - The Gathering Storm," annotating 1.000 abstracts from books, journals, magazines, newspapers and reports of dog fighting and Pit Bull Attacks.

This was a warning that a new threat was being unleashed on society.(CA enacted a No Breed Specific Legislation prohibition in 1989.)

After Pit Bulls began to be kept as pets, owners generally kept only one orperhaps with a dog of the opposite gender (but even this may not stop them from inevitably fighting or killing each other.)

However, the basic behavior seems to be changing--perhaps as an adaptation to multiple-Pit households--so that numerous Pit Bulls can live together without killing each other but attack as a pack.Is this an anomaly, or is there a change occurring in the genetic structure of the dogs?

IS THE MULTIPLE-PIT BULL ENVIRONMENT CHANGING THE GENETICS OF PIT BULLS?

In the study, "Both Environment and Genetic Makeup Influence Behavior," the following conclusion was reached:

How do genes and the environment come together to shape animal behavior? Both play important roles. Genes capture the evolutionary responses of prior populations to selection on behavior. Environmental flexibility gives animals the opportunity to adjust to changes during their own lifetime.

I am not a geneticist, but I think it is worth questioning whether creating a living environment for Pit Bulls as pets in large or unlimited numbers in the same household is also creating changes in genetics which allows them to act in unison during attacks, but not turn on each other?

And, if so, judging from the recent increase in multiple Pit Bulls attacking as a pack, what issues does this pose for the future of society and community safety?

(Phyllis M. Daugherty is a former City of Los Angeles employee and a contributor to CityWatch.) Edited for CityWatch by Linda Abrams.

See more here:
Is 'No Kill' Changing the Genetics of Pit Bulls? - City Watch

A new paper in Nature Reviews Genetics, Overcoming challenges and dogmas to understand the functions of pseudogenes, is simply incredible. It documents not only that pseudogenes have been found to have widespread function but also that under current dogma in biology, and given the technical limitations, we are failing to recognize their functions. As Seth W. Cheetham and his co-authors put it, biology suffers from demotivation into exploring pseudogene function by the a priori assumption that they are functionless where The dominant limitation in advancing the investigation of pseudogenes now lies in the trappings of the prevailing mindset that pseudogenic regions are intrinsically non-functional.

The abstract lays out exactly what they think:

Pseudogenes are defined as regions of the genome that contain defective copies of genes. They exist across almost all forms of life, and in mammalian genomes are annotated in similar numbers to recognized protein-coding genes. Although often presumed to lack function, growing numbers of pseudogenes are being found to play important biological roles. In consideration of their evolutionary origins and inherent limitations in genome annotation practices, we posit that pseudogenes have been classified on a scientifically unsubstantiated basis. We reflect that a broad misunderstanding of pseudogenes, perpetuated in part by the pejorative inference of the pseudogene label, has led to their frequent dismissal from functional assessment and exclusion from genomic analyses. With the advent of technologies that simplify the study of pseudogenes, we propose that an objective reassessment of these genomic elements will reveal valuable insights into genome function and evolution.

They immediately caution that there are many instances where DNA that was dismissed as pseudogene junk was later found to be functional: with a growing number of instances of pseudogene-annotated regions later found to exhibit biological function, there is an emerging risk that these regions of the genome are prematurely dismissed as pseudogenic and therefore regarded as void of function.

In 2003, Francisco Ayala and Evgeniy Balakirev wrote in Annual Review of Genetics that pseudogenes that have been suitably investigated often exhibit functional roles. This new Nature Reviews Genetics paper offers a very similar statement: Where pseudogenes have been studied directly they are often found to have quantifiable biological roles. Its a long narrative that recounts how many scientists mistakenly dismissed stretches of DNA as pseudogenes. They document dozens of instances where pseudogenes in humans and other organisms have been found to have function.

Some of these functions are protein-based, meaning the pseudogene actually generates a functional protein. But other functions can be RNA-based or DNA-based. For example, most evolutionists would presume that a pseudogene that does not produce a protein cant be functional. But the paper observes that pseudogenes that cannot be translated into a protein may still have a function through their RNA transcript:

Many pseudogenes contain a frequency of mutations that render them unlikely to be (or incapable of being) translated into proteins. However, such mutations do not necessarily preclude pseudogenes from performing a biological function.

The paper notes that even if the RNA transcript of a pseudogene cant be translated into protein, a myriad of RNA-based regulatory mechanisms have been described for pseudogenes, including processing into small interfering RNAs (siRNAs) that may regulate their parent genes, acting as a decoy for transcription factors and, most prominently, as molecular sponges for microRNAs.

Many evolutionists would forcefully assume that if a pseudogene cant even produce an RNA transcript then it cant be functional. But it turns out that pseudogenes that dont produce any RNA transcript (i.e., arent transcribed) can still have important functions:

Another mechanism through which pseudogenes can function is by influencing chromatin or genomic architecture. HBBP1, a pseudogene residing within the haemoglobin locus, enables the dynamic chromatin changes that regulate expression of fetal and adult globin genes during development. Notably, although inhibiting HBBP1 transcription has no effect, deletion of the genomic locus reactivates fetal globin expression. HBBP1 DNA contacts, but not transcription, are required for suppressing the expression of fetal globin genes in adult erythroid cells.

A variety of other non-transcriptional functions are documented in the paper, including stabilizing chromosomes, mediating transcript-splicing, and regulating recombination. Thus, in many cases copy numbers of pseudogenes seem to have functional importance, where deviations from the normal genetic state causes disease. They predict: It is expected that further links between human pseudogene polymorphisms and complex diseases will be identified in the coming years

The implication is that one reason we presume pseudogenes are functionless is because we havent been looking for their functions. And why didnt we look for their functions? Because we presumed they were functionless! So theres a circular aspect to the reasoning here. It has created the science-stopping junk-DNA paradigm, which has prevented us from understanding what pseudogenes really do.

The typical response from evolutionists would be that all of these examples of functional pseudogenes are just isolated rare cases, and that the bulk of pseudogenes are clearly junk. The authors of the paper who give no indication of sympathy for intelligent design, but definitely oppose dismissing pseudogenes as junk are aware of this objection. They say the following in direct rebuttal to it:

The examples of pseudogene function elaborated on here should not imply that pseudogene functionality is likely to be confined to isolated instances. At least 15% of pseudogenes are transcriptionally active across three phyla, many of which are proximal to conserved regulatory regions. It is estimated that at least 63 new human-specific protein-coding genes were formed by retrotransposition since the divergence from other primates. Numerous retrogenes continue to be recognized as functional protein-coding genes rather than pseudogenes across species. High-throughput mass spectrometry and ribosomal profiling approaches have identified hundreds of pseudogenes that are translated into peptides. Although the functions of these peptides remain to be experimentally determined, such examples illustrate the challenge in substantiating a genepseudogene dichotomy.

They continue: As the abundance of such [non-coding-DNA] acquired functions does not appear to be an especially rare or isolated phenomenon, it would seem remiss to take the default perspective that processed pseudogenes are functionless. Instead, it is probable that pseudogene-containing regions of the genome harbour important biological functions that are yet to be revealed.

They point out that current algorithmic and computational methods employed for differentiating pseudogenes and protein-coding genes may overestimate the proportion of the genome that is composed of pseudogenes. Why? Because the properties that are used to define many pseudogenes are also often found in normal protein-coding genes. For example:

Because of this, they argue that computational differentiation of pseudogenes from genes on a purely rule-based system is unlikely to be feasible as it will inherently conflict with many protein-coding genes. They therefore propose markedly softening claims that a stretch of DNA is a pseudogene: it may be useful to consider the annotation of pseudogenes in genomes as a prediction or a hypothesis rather than a classification.

As the authors show, the presumption that a pseudogene is functionless needs to be abandoned. But then, why are we still presuming they are functionless? There are three main reasons: (1) evolutionary thinking has presumed that pseudogenes are functionless junk, (2) terminological dogma reinforces a mindset that pseudogenic regions are intrinsically non-functional, and (3) technological limitations prevent us from discovering their function. The paper acknowledges that problem (3) stems from problem (2), but it fails to explicitly recognize that both problems (2) and (3) ultimately stem from problem (1). In fact it doesnt even identify problem (1) as a problem. Yet the whole situation traces back to bad evolutionary predictions. Lets look at these causes briefly, in reverse order:

The proximal cause that prevents us from understanding pseudogene functions are technological limitations. Because of the junk DNA paradigm, a lot of our biochemical techniques and technologies are set up only to identify standard protein-coding genes. They ignore and dismiss DNA that doesnt fit that mold. Only by updating our technology to detect functional DNA elements that dont necessarily fit the standard definition of a gene can be we begin to understand what pseudogenes really do. The paper explains that technical limitations, informed by our biases and assumptions, demotivate the study of pseudogene functions:

In addition to the demotivation into exploring pseudogene function by the apriori assumption that they are functionless, their systematic study has also been hindered by a lack of robust methodologies capable of distinguishing the biological activities of pseudogenes from the functions of the genes from which they are derived.

They compare the situation to that of long non-coding RNAs (lncRNAs), which were similarly dismissed initially as emanating from junk DNA or as transcriptional noise, largely by virtue of their definition as non-protein-coding. But as technology developed, lncRNAs are now widely recognized as functional and we regularly screen for their functions:

Following a combination of technology developments, genome-wide studies and detailed biochemical studies, lncRNAs are now routinely included in genome-wide analyses, and their functional potential as cellular regulators is widely recognized.

However, at present, the authors note, due in part to the experimental challenge of investigating their function and expression, pseudogenes are typically excluded from genome-wide functional screens and expression analyses. In other words, one of the main reasons we arent finding function for pseudogenes is because we arent looking for it. This needs to change, and they argue that it can.

For example, according to the paper, processed pseudogenes were presumed to have been rendered transcriptionally silent by the loss of cis-regulatory elements. But we now know that thousands of retrotransposed gene copies are transcribed and are often spliced into known protein-coding transcripts and up to 10,000 mouse pseudogenes have evidence of transcription. By trying to study these transcripts we can understand what they may be doing.

One complication is that pseudogene transcription shows cell-type specificity and dynamic expression meaning they may only be transcribed in particular places at particular times. This is all the more reason not to assume that lack of evidence for the function of a pseudogene is evidence that the pseudogene has no function! It very likely may be functional in a cell-type or a situation that we just havent properly investigated yet. As they put it, The use of assays ill-suited to analysis of pseudogenes has arguably stymied elucidation of their biological roles. But they are hopeful: CRISPR-based approaches, carefully applied, have the potential to revolutionize our ability to dissect the functions of pseudogenes. They conclude that its time to stop excluding pseudogenes from biochemical analyses and start using techniques that can identify their functions:

The use of a liberal definition of pseudogenes is attractive as it simplifies genomic analyses. This approach, often unknowingly to the researcher, leads to the consolidation of the pseudogene classification that is, their exclusion by convenience in functional studies. Many regions now considered to be dead genes potentially encode cis-regulatory elements, non-coding RNAs and proteins with impacts in human biology and health. Accordingly, determining the functions of putative pseudogenes warrants active pursuit by their inclusion in functional screens and analyses of genomic, transcriptomic and proteomic data. With innovations in long-read sequencing and CRISPR-based methodologies now readily accessible, the technological limitations that formerly motivated the exclusion from functional investigation are largely resolved.

Until we develop and apply these technologies to put pseudogenes to the proper test, the assumption that they are functionless junk is completely unwarranted. And its not hard to predict what the outcome will be. As Ayala and Balakirev noted, pseudogenes that have been suitably investigated often exhibit functional roles. Or as this new paper observes, Where pseudogenes have been studied directly they are often found to have quantifiable biological roles.

Technology only reflects what people want to do, and there are reasons why biologists have created hardly any technology to investigate pseudogenes: biologists presume (wrongly) that pseudogenes are nonfunctional junk. The paper argues that the terminology associated with the junk DNA paradigm discourages investigation into their function. Thus, we have terms like pseudogene which by their very nature imply that the DNA isnt a gene but something like a wannabe gene that doesnt do anything. As the authors note, the definition of a pseudogene as defective means the non-functionality of pseudogenes remains the dominant and default perception. Citing Thomas Kuhn and his concept of a dominant paradigm that is intolerant of criticisms, they lash the junk-pseudogene paradigm in strong terms:

[T]he term pseudogene itself asserts a paradigm of non-functionality through its taxonomic construction. Pseudogenes are defined as defective and not genes. This point is highlighted because impartial language in science is known to inherently restrict the neutral investigation between conflicting paradigms. In the case of pseudogenes, the term itself is constructed to support the dominant paradigm and therefore limit, consciously or unconsciously, scientific objectivity in their investigation.

Its hard to imagine a greater indictment of the idea that pseudogenes are generally functionless. They continue to explain how use of the term pseudogene hinders scientific research:

Although the pseudogene concept arose to describe an individual molecular phenomenon, the term was rapidly adopted to annotate tens of thousands of genomic regions that met only loosely defined criteria and was effectively axiomatized without being subject to any rigorous scientific debate. This lack of consensus-seeking process has left genome biology with a legacy concept that obscures objective investigation of genome function.

They recommend using different language where [t]he automated classification of gene-like sequences as pseudogenes should be avoided. Instead, we propose that descriptive terms that do not make functional inferences should be used in reference to genomic elements that arose from gene duplication and retrotransposition and terminology should not impose any unsubstantiated assumption on end users.

So what is now stopping us from elucidating the functions of pseudogenes? The only obstacle is a mental block not a technical or evidential one:

The dominant limitation in advancing the investigation of pseudogenes now lies in the trappings of the prevailing mindset that pseudogenic regions are intrinsically non-functional.

The paper predicts that as soon as we lose this mindset, there will remain no technical limitations blocking us from progress in understanding the functions of pseudogenes: With renewed scientific objectivity, we anticipate that a wealth of discoveries to understand genome function, its role in disease and the development of new treatments is within reach.

Thats good news, but we must ask a question the paper fails to ask: Why did this terminology develop in the first place?

Evolutionary thinking is the cause that ultimately created, nurtured, and sustained the junk DNA paradigm. Yet the paper adopts a wholly evolutionary approach, and for this reason never identifies evolutionary thinking as the root problem. The closest the authors get is when they recount how the very first paper to identify a pseudogene (published in 1977) dismissed its potential function as a relic of evolution:

In the absence of evidence that the 5S pseudogenes were transcribed, Jacq etal. concluded that the most probable explanation for the existence of the pseudogenes is that they are a relic ofevolution and are functionless1. Since the coining of the term pseudogene, its definition has broadened and is now widely accepted to define any genomic sequence that is similar to another gene and is defective.

This 1977 paper by Jacq et al. was published in the journal Cell and found a pseudogene in an African frog. That paper concluded:

We are thus forced to the conclusion that the most probable explanation for the existence of the pseudogene is that it is a relic of evolution. During the evolution of the 55 DNA of Xenopus laevis, a gene duplication occurred producing the pseudogene. Presumably the pseudogene initially functioned as a 55 gene, but then, by mutation, diverged sufficiently from the gene in its sequence so that it was no longer transcribed into an RNA product.

And there you have it: The pseudogene is seen as a mere a relic produced by mutation until it diverged so much that it was no longer transcribed into an RNA product. This is the classic view of a pseudogene.

Ironically, the 1977 paper went on to speculate that perhaps there is evidence for function for the pseudogene, but the authors privilege the relic view as the right answer until a function can be proven:

This evolutionary explanation for the presence of the pseudogene, however, is incomplete by itself in that it ignores the conservation in sequence of the pseudogene, and indeed of the entire G + C-rich spacer of 55 DNA. In an attempt to explain this, it has been suggested that the pseudogene may be a transcribed spacer corresponding to a primary transcript of 55 RNA, which is a transient precursor and has not so far been detected. If this is so, then most of the G + C-rich region of 55 DNA would be the structural gene for 5S RNA. This function, if true, would provide the necessary selective pressure to conserve the sequence of the linker and pseudogene region so that the correct processing of the postulated 300-long precursor was maintained. In the absence of any experimental evidence for such a long precursor, however, this suggestion must be regarded as speculative; it is more probable that the pseudogene is a relic of evolution.

The recent Nature Reviews Genetics paper hopes to remedy this problem by reviewing much of the overwhelming evidence for pseudogene function and emphasizing how the the non-functionality of pseudogenes remains the dominant and default perception. This will limit, consciously or unconsciously, scientific objectivity in their investigation. The authors are to be commended. However, experience teaches that unless you address the root cause of a problem, it rarely goes away. The tendency to view pseudogenes as a relic of evolution probably wont change as long as you presume that the entire genome is the product of blind evolution. The paper fully endorses the latter view, providing all kinds of narrative gloss that describes pseudogenes (whether functional or not) as retrocopies that arose from gene duplication and transposition. They emphasize:

In the fundamental reductionist approach often assumed in genetics and molecular biology, the perspective is often lost that life as we observe it today is not only the product of billions of years of evolutionary processes but also still subject to these same processes.

They are welcome to take the reductionist approach often assumed in genetics and molecular biology. But until those fundamental evolutionary views of the genome are on the table for questioning, they wont make much progress in shaking the science-stopping assumptions of the junk-DNA paradigm.

Photo: Xenopus laevis, by Brian Gratwicke [CC BY 2.0], via Wikimedia Commons.

Read more here:
Nature Reviews Genetics Pseudogene Function Is Prematurely Dismissed - Discovery Institute

We like to think that what doesnt kill us makes us stronger, or more resilient, or... something. Deeper. Wiser. Enlarged. There is glory in our sufferings, the Bible promises. Suffering produces perseverance; perseverance, character; and character, hope. In this equation, no pain is too great to be good. The darker the night, the brighter the stars, Dostoyevsky wrote. The deeper the grief, the closer is God! We atheists get in on the action by insisting that the agony of loss elucidates the worth of love. The hours spent staring into the dark, looping around our own personal grand prix of anxieties, are not a waste of time but a fundamental expression of our humanity. And so on. To be a person is to suffer.

But what if our worst feelings are just vestigial garbage? Hypervigilance and pricking fear were useful when survival depended on evading lions; they are not particularly productive when the predators are Alzheimers and cancer. Other excruciating feelings, like consuming sadness and aching regret, may never have had a function in the evolutionary sense. But religion, art, literature, and Oprah have convinced us that they are valuablethe bitter kick that enhances lifes intermittent sweetness. Pain is what makes joy, gratitude, mercy, hilarity, and empathy so precious. Unless it isnt.

I know the word pain, and I know people are in pain, because you can see it, Joanne Cameron, a seventy-two-year-old retired teacher, told me, in the cluttered kitchen of her century-old stone cottage in the Scottish Highlands. Cameron has never experienced the extremes of rage, dread, grief, anxiety, or fear. She handed a cup of tea to Jim, her husband of twenty-five years, with whom shes never had a fight. I see stress, she continued, and Ive seen pain, what it does, but Im talking about an abstract thing.

Because of a combination of genetic quirks, Camerons negative emotional range is limited to the kinds of bearable suffering one sees in a Nora Ephron movie. If someone tells Cameron a sad story, she crieseasily! Oh, Im such a softie. When she reads about the latest transgression by Boris Johnson or Donald Trump, she feels righteous indignation. But then you just go to a protest march, dont you? And thats all you can do. When something bad happens, Camerons brain immediately searches for a way to ameliorate the situation, but it does not dwell on unhappiness. She inadvertently follows the creed of the Stoics (and of every twelve-step recovery program): Accept the things you cannot change.

Cameron, who has white hair and was wearing denim overalls over a purple striped shirt, has a bouncy, elfin energy. She described the closest shed ever come to experiencing real terror: an incident when her son, Jeremy, a musician, was beaten up so badly at a gig that he had to be hospitalized. He was defending someone, Cameron said. The lead singer was gaywere talking a good few years ago, when they werent quite as toleratedand they started calling the gay chappie names, and then suddenly the whole lot of them came on top of Jeremy.

They punched him, and kicked him, stamped his head, Jim, a tall, genial man, with a white beard and a thick brogue, added gravely.

When Cameron got the call, she remembers, initially, I thought, Oh, God, I hope he doesnt dieI felt that. Then we got in the car. I wasnt fretting, I was just thinking, Weve got to get to him, he needs me. They drove a hundred and thirty miles on the single-track roads that wind east from their home in Foyers, near the snaky banks of Loch Ness, to Peterhead. We got to the hospital about four or five in the morning. He looked like an elephant man, my handsome boy did, Cameron said, laughing. He looked like nothing on earth!

In addition to Jeremy, who is forty-two, Cameron has a daughter, Amy, who is thirty. Her experience of motherhood has entailed none of the rumbling terror that most parents feel over their childrens safety. Some time ago, someone said to me, When the baby comes, the first thing you do is count the fingers and toes. I thought, I never looked at anything! Cameron said. I never dreamed of there being anything wrong.

In sharp contrast to her near-inability to feel awful, Cameron has an expansive capacity for positive emotions. She is exceedingly loving and affectionate with her husband. When I first came to the door, she greeted me with an embrace, crying, Ooh, Im very huggy! Her seventeen years as a special-education teacher required great reserves of compassion. I had a Down-syndrome girlwho was actually quite high-functioningand she would come in every morning and shed walk up to me and spit in my face, and say, I hate you, Jo Cameron! I hate you! And Id stand there and say, I dont like being spat on, but I dont hate you! Cameron told me, smiling. Oh, Ive had some very difficult students. Ive been bitten; Ive been spat on; Ive been kicked! Over the years, the Camerons have provided short-term foster care for four children. One of them stole all their vacation money from the cookie jar. She did take things for the sake of taking them, Cameron said pleasantly. It took us years to catch up! When eight hundred pounds is gone from your vacation kitty, it takes a long time to recoup.

Even seemingly sorrowful things, like the loss of her mother a year ago, can fill Cameron with appreciation and pleasure. My mothers death was the least saddest thing ever, Cameron declared. She used to say, Ive had the most wonderful life. And she died after she had an iced lolly and went to sleep. When the doctor arrived, Cameron recalled, she said, Dont take this the wrong way, but thats the most beautiful corpse Ive ever seen. Then we sat in the kitchen and had a fantastic wake: we toasted Mum with Tia Maria till the early morning.

Cameron plans to leave her own corpse to science when she dies. Theyll whisk the body away, and stick us in a drawer somewhere and chop us up, wont they? she said. I dont mind. She will also spend a good deal of her remaining time alive being studied by scientists, who hope that her genetics will provide a path to new treatments for anxiety and trauma, as well as for pain management and healing. In addition to her unusual emotional composition, Cameron is entirely insensitive to physical pain. As a child, she fell and hurt her arm while roller-skating, but had no idea shed broken it until her mother noticed that it was hanging strangely. Giving birth was no worse. When I was having Jeremy, it was the height of everyone doing natural childbirths, she said. My friends would come up to me and say, Dont listenits murder. If youre in pain, take everything they give you. I went in thinking, As soon as it gets painful, Ill ask for the drugs. But it was over before I knew it.

Remarkably, Cameron didnt realize that she was any different from other people until she was sixty-five. Lots of people have high pain thresholds, she said. I didnt think people were silly for crying. I could tell people were upset or hurt and stuff. I went through life and I just thought, I havent hurt myself as much as they have.

Devjit Srivastava was an officer in the Indian Navy for a decadean experience that taught him to stay cool under pressure. Composure is also important in his current job, which is unpredictable and high-stakes: Srivastava is the consultant anesthetist at what he calls a frontier hospitalRaigmore, in Inverness, which serves the whole of the vast and remote Scottish Highlands. His first day on call, he was pulled into a helicopter to help with a field amputation on a farmer who had got caught in a thresher.

When Srivastava met Jo Cameron, six years ago, she told him that she wouldnt need painkillers for the surgery she was about to undergo. He assumed that he was just dealing with a kindred imperturbable spirit. The Scottish are known to be stoic people, Srivastava said, drinking coffee in the bustling hospital cafeteria. I thought, Shes just trying to tell me she can tolerate pain very well. And, actually, its a busy list, and we have to crack on.

Cameron was having a trapeziectomy, an operation to remove a small bone at the base of the thumb joint. Though her hands never hurt, theyd become so deformed by arthritis that she couldnt hold a pen properly. Shed had a similar experience with her hip, which had recently been replaced; it didnt hurt, but her family noticed that she wasnt walking normally. She saw her local doctor about it several times, but the first question was always How much pain are you in? And the answer was always None. (The third time I was there I think they figured, Well just take an X-ray to shut this woman up, Cameron told me. Then the X-ray came in and it was really bad. Everything was all distorted and mangled and crumbling. He said, Wow. This has got to be done.)

Srivastava told Cameron that, Scottish stoicism notwithstanding, he intended to use an anesthetic block during the operation. After she left the hospital, he reviewed her chart: She had only one paracetamola Tylenolimmediately after the operation in the recovery area. And that was only because the nurses give everybody a paracetamol after surgery. I checked the full records of hip replacement the previous year: after hip surgery it was the same thingnothing taken for pain. Thats when I called her in.

He remained slightly skeptical until Cameron let him perform a maneuver that anesthesiologists use on patients who are having difficulty regaining consciousness after sedation: they press hard on the inner edges of the eye sockets, and the pain shocks people awake. Cameron, of course, felt only pressure.

Srivastava was surprised that no doctor or nurse had been curious about her pain insensitivity before. (Cameron told me that she didnt think it was particularly notable: Theyve got so many people demanding their attention, screamingtheyre the ones you focus on.) Srivastava recognized that her case was extraordinaryThis doesnt fall into every anesthetists life, he saidand also that understanding it would require him to supplement his own expertise. He developed a research protocol, and enlisted highly regarded scientists from around the world to try to figure out what caused her condition.

Cameron is beguiled by the idea that she can help alleviate others sufferingshe remembers the terrible migraines that tormented her mother. Her father, however, was pain-free. I never saw him take an aspirin, Cameron said. Im convinced he was the same as me, because I never heard my father complaining about any pain, ever. He died suddenly, of a brain hemorrhageI think other people would have had a warning. She continued, He was the kindest man youll ever meet. Every morning hed wake us with a cup of tea and a carrot from the garden and tell us a poem. Then hed accompany Cameron to school, hand in hand and skipping all the way.

The scientists who took on Jo Camerons case were working in a young field. Geneticists have been studying congenital insensitivity to pain only since the nineteen-nineties. In that time, several hundred cases have been reported; presumably there are others, but no one knows how many. The condition is almost always caused by neuropathy, an interruption in the transmission of painful sensation along nerve fibres. People with severe congenital neuropathy tend to die young, because they injure themselves so frequently and severely. (Without pain, children are in constant danger. They swallow something burning hot, the esophagus ruptures, bacteria spill into the internal organs, and terminal sepsis sets in. They break their necks roughhousing. To protect some patients, doctors have removed all their teeth to prevent them from chewing off their tongues and bleeding to death.) There are also people whose neurons stop working, as the result of a disease: syphilis, lupus, diabetes, rheumatoid arthritis.

In recent years, advances in genetic science have made it possible to link particular variants of pain insensitivity to mutations in specific genes. Six members of the Marsili family in Italy, for instance, share a mutation in the gene ZFHX2; consequently, they rarely sweat, experience pain only fleetingly, and are completely insensitive to heat. We live a very normal life, perhaps better than the rest of the population, Letizia Marsili, the matriarch of the family, said in 2017. (She once broke her shoulder while skiing in the Italian alps; she continued skiing without any pain for the rest of the afternoon, and got around to seeing a doctor only days later, when it was convenient.) There are downsides, though, to whats been named Marsili syndrome. Letizias mother suffered multiple fractures in her youth without noticing them; her bones were never set properly, and they healed awry.

In 2006, Geoff Woods, a geneticist at Cambridge, published his findings on members of several families in a remote region of northern Pakistan, who share a mutation in the gene SCN9A, which renders them both pain-free and unable to process smell. (Since then, people with the same mutation have been identified all over the world, but the Pakistani patients were an ideal group to study: they were all the products of cousin-to-cousin marriages, making their gene pool unusually easy to map.) The lack of a sense of smell is really helpful, because it provides us with a simple question we can ask new patients, James Cox, a former researcher of Woodss who is now a prominent geneticist at University College London, said. Cox has been studying Camerons DNA for five years, and has co-authored a paper with Srivastava about her case, which was published last March, in the British Journal of Anaesthesia. Jo is quite unique, he said.

Cameron does not have neuropathy: she can feel all the sensations the rest of us do, except pain. The most striking difference between her and everyone else is the way she processes endocannabinoidschemicals that exist naturally in every human brain. Endocannabinoids mitigate our stress response, and they bind to the same receptors as the THC in the kind of cannabis you smoke. Normally, they are broken down by an enzyme called fatty acid amide hydrolase, or FAAH. But Cameron has a mutation on her FAAH gene that makes the enzyme less effectiveso her endocannabinoids build up. She has extraordinarily high levels of one in particular: anandamide, whose name is derived from the Sanskrit word for bliss.

About a third of the population has a mutation in the FAAH gene, which provides increased levels of anandamide. That phenotypelow levels of anxiety, forgetfulness, a happy-go-lucky demeanorisnt representative of how everyone responds to cannabis, but you see a lot of the prototypical changes in them that occur when people consume cannabis, said Matthew Hill, a biologist at the University of Calgarys Hotchkiss Brain Institute, who was a co-author of the Cameron paper. The FAAH gene, like every gene, comes in a pair. People who have the mutation in one allele of the gene seem a little high; people who have it in both even more so. Jo Cameron is fully baked.

When I met Jo for the first time, I was just struck by her, Cox, an affable forty-year-old with a scruffy beard, told me, one afternoon in his lab at U.C.L. She was very chatty. Did you notice that? (Its hard to miss.) I said to her, Are you worried about whats going to happen today? Because she was meeting our clinicians to have a skin biopsy and do quantitative sensory testingpain-threshold tests. She said, No. In fact, Im never worried about anything. Cox told me that it was difficult to get through everything in the time theyd allotted, because Cameron was so friendly and loquacious with the scientists, even as they burned her, stuck her with pins, and pinched her with tweezers until she bled. This imperviousness to pain is what makes her distinct from everyone else with a FAAH mutation. They, like even the most committed stoners, can still get hurt.

Cameron had the same FAAH mutation that many other people havebut there had to be something else at play. The scientists started their inquiry by isolating DNA from her blood, and then analyzing the protein-coding subset of her genomethe part thats traditionally considered to be significant. We didnt really find anything, Cox said. So we decided, O.K., why dont we look across the whole genome for bits that are deleted or duplicated? And, at the time, this new chip was just available, which enabled us to scan the whole genome and look for deletionssnippets missing from her genetic code. It was a lucky strike: we found that there was this deletion. But it was distinct from FAAH. It was away from FAAH, just downstream.

The scientists noticed that the right edge of the deletion overlapped a gene that was annotated as a pseudogene, Cox said, and frowned. Which is a term I dont like. A pseudogene is whats been thought of as genetic detritusa copy of a gene thats just sitting there, not doing anything productive. One biochemist I spoke to likened a pseudogene to a rusted-out car you stumble on in the forestonly, in Camerons case, they put a key in the ignition and the car turned on. To call it a pseudogene is misleading, because this is a gene that is expressedit makes a product, a sequence in the DNA, Cox said, with excitement. Its a real fascinating class of genes which have been severely overlooked in genetics until very recently. Cox and his colleagues named this particular pseudogeneIts nicer to call it a gene, he insistedFAAH OUT. It was a wordplay, really, he said sheepishly. The challenge now is to understand what its doing. Jo is the first person in the world that we know of with this.

Camerons case is important in genetics, partly because it may supply evidence that pseudogenes are more significant than they were previously thought to be. Moreover, if scientists can replicate her neurochemistry they might be able to develop treatments that alleviate the opioid epidemic. They could potentially treat otherwise intractable anxiety and depression. Perhaps we could all be a little more like Jo Cameron: joyful, compassionate, unperturbed by all the nasty, roiling feelings that turn us, from time to time, into goblins.

I asked Matthew Hilla renowned expert on cannabinoids and stressif there was any downside to Camerons biology, and he laughed out loud. Yes! From an evolutionary perspective, it would be tremendously destructive for a species to have that, he said. Without fear, you drown in waves that you shouldnt be swimming in; you take late-night strolls in cities that you dont know; you go to work at a construction site and neglect to put on a hard hat. Her phenotype is only beneficial in an environment where there is no danger, Hill asserted. If you cant be concerned about a situation where youd be at risk of something adverse happening to you, you are more likely to put yourself in one. Anxiety is a highly adaptive process: thats why every mammalian species exhibits some form of it.

Unlike other pain-insensitive people, Cameron has made it into her seventies without getting badly hurt. Sometimes she realizes that shes burning her hand on the stove because she smells singeing; sometimes she cuts herself in the garden and sees that shes bleeding. But none of that has been severe, and Cameron did raise two children safely into adulthood.

The human brain is very capable of learning, This is whats appropriate to do in this situation, Hill said. Camerons relative cautiousness may have developed imitatively. And there may not have been that much threat presented to hershes lived in a rural community in Scotland, he concluded. Maybe she hasnt had to deal with that much that would physically or emotionally harm her.

Scotland is notorious for one of the vilest climates under heaven, Robert Louis Stevenson, who was born in Edinburgh, wrote. The weather is raw and boisterous in winter, shifty and ungenial in summer, and a downright meteorological purgatory in the spring. But the week in autumn when I visited was blissfully sunny. Farmland rolled under a gleaming blue sky for miles around the Camerons property, green and gold and dotted with sheep. Behind their cottage, they grow vegetables in little plastic greenhouses, and their chickens peck about in a modest orchard of pears, apples, and plums. We look after the hens very well, Cameron said. (She is a vegan; her husband is a vegetarian who sometimes indulges in an egg.)

The Camerons do everything together, Jo said. They make wine, and take weekly trips to Edinburgh to visit Amy; theyre in a local theatre troupe, for which Jo is the stage manager. (She doesnt act, because she cant remember the lines. As we were walking through the garden, a pizza was burning in the oven: Cameron had forgotten that she was making one for lunch.) I love Jim to bits, Cameron said. Hes smashingIm so lucky. Having had a marriage before where... She trailed off, thinking about her previous husband. I mean, I loved him. But you never knew what you were coming home to.

Camerons first husband, Phil, died after a prolonged battle with mental illness. Hed either be full of fun and laughter, or hed be so depressed hed be curled up in the corner in the fetal position, she said. He was like this She mimed a seesaw going violently up and down. Bipolar.

They met when they were both university students near Birmingham, England, where Cameron grew up. He was lovely, she said. But he always had a dark side. He would get down, and I would be the one that would bring him up again. You know, thered be a game going: Oh, its not that bad, come on.

Phil had his first major episode as the family was on its way to a vacation in Sardinia, when Jeremy was little. He just cracked, Cameron said. On the plane, all the way there, he was kicking me, pinching me. (Its impossible to say how hard; it didnt hurt.) We got to the hotel, and I said, Can someone please come and help me? My husband is having a breakdown. She recalled the difficulty of finding a flight home on short notice, of thinking of an excuse to give Jeremy. He always had it under control, she said. But suddenly he couldnt control it. Phil tried a variety of medications and saw several psychiatrists over the years. I always went to every session, Cameron said. The last time he went to see somebody, the doctor said to me, This is terminal, you know. At some point, he will... And six months later, sure enough, he did.

I asked Cameron what she felt when the psychiatrist said that. (And I imagined how I would feel: desperate, heartsick, powerless, distraught.) I looked at the state he was in, and I thought, Maybe its good, she said. Cameron was back at work the day after the funeral. It sounds cold. But you say to people, Im not being cold! Look, horrible things happen. Im not in airy-fairy land. Horrible things are going to happen. You have to cope with it. You have to say to yourself, I cant help that person. You help them as much as you can, but when you cant help them anymore, then you have to help everyone else.

Amy was a year old at the time, and Jeremy was thirteen. We all went to the beach every weekend after Phil died, Cameron recalled. I said to Jeremy, What well do every Sunday is well put Amy in the back of the car, and you get a mapbecause he loved mapsand I wont know where were going, just direct me. Hed go, Turn left, now turn right, go along here. And wed turn up in all sorts of places, and wed have Sunday lunch. We had a great time doing that. Whenever I pressed Cameron for details about a seemingly devastating occurrence, she wasnt evasive; she was mystifyingalways ending up on a lovely memory, via a route so unforeseeable it was as if it, too, were determined by a child with a map.

Cameron began dating Jim, who was teaching science at the time, and had known her late husband from their village chapter of Roundtable, a kind of Scottish Rotary Club. Five years later, they married, and Jim adopted Amy. (Jeremy was already a young adult.) Cameron said of her daughter, Shes geometrically opposite me. She worries about everything. From an early age, Amy demonstrated talent as an artist, and her work has been exhibited across Europe. Her portfolio includes sculpture, earthworks, and intricate, realistic drawings, often interspersed with text. In one piece, above the image of a sleeping baby, float the words feeling/the sacrifice/cut through/and sectioned/kept alive by/these unfortunate animals of emotionsfear, disgust, anger, etc. Odder still people feel nothing.

Amy finds her mothers equanimity confounding. Shell say, Why cant you be a normal mom? Cameron told me. When Cameron asked, Whats a normal mom? Amy replied, Well, its not you. They shout! Cameron shook her head at the memory. I sometimes think to myself, Im being horrible. If someone is really in a rage and really upset, and youre saying, Its all right!, then they get angrier. I can be very annoyingespecially when youre a teen-ager and you dont want your problems solved. You just want someone to shout at.

Paul Bloom, a professor of psychology at Yale and the author of the book Against Empathy, maintains that relating to suffering has little to do with the capacity to be helpful and kind. He has published research suggesting that compassion, not empathy, drives altruistic behavior. (Most research on the subject blurs together empathy and compassion, but Bloom argues that this is a failure of experimental design: The standard measures suck.) Empathy can actually get in the wayif you are in terrible pain and I feel so much empathy for you that, being with you, I feel it, too, I may decide to stay home, he told me. The Buddhists knew this. Theres all this teaching that says, Dont get sentimental. Joyously and lovingly help others, but dont get in their heads. Cameron, he told me, was a perfect illustration of his point: Shes my dream girl. She doesnt feel the pain of others, so she doesnt feel empathy per se. But she cares for others.

For nearly a decade, pharmaceutical firms have tried, without success, to create medications that act on FAAH. In 2016, the Portuguese company Bial Pharmaceuticals abandoned one such drug after a Phase 1 clinical trial in which six participants were hospitalized, and one died. (Scientists believe that there may have been a dosing accident, or that the drug had off target effectsit ended up binding to a receptor other than FAAH.) Pfizer gave up its own attempts at a FAAH inhibitor in 2012, because the drug didnt work. Recently, though, it started research again, and Vernalis funded a study at Brigham and Womens Hospital, in Boston, which is undergoing peer review. The prospect of a breakthrough is too promising to relinquish.

Opioids, besides being addictive, dont always work: some kinds of chronic pain dont respond to drugs that target the opioid system, or to other analgesics, such as ibuprofen and corticosteroids, which operate on the prostaglandin system. Cameron may provide the key to a new class of drugs that operate on the endocannabinoid system. Srivastava told me that the paper he worked on with his colleagues was just the beginning. You realize that this is sort of nature revealing its secret to you, he said, and you only worked on part of that secret, but if you worked on the full secret, so to say, it could be astounding.

For half a century, scientists have accumulated evidence that pain is not simply the result of a one-way flow of sensory information from an injury to the brain. Before the brain gets involved, gates in the spinal cord modulate the way we feel painwhether it is fast-travelling information, as in a stab wound, or the dull, slow-moving kind that characterizes chronic pain. These spinal gates can be opened or closed by a variety of factors. A distracting physical sensation can temporarily close them; when you bump your head and instinctively rub that spot, you are overriding the nerves that register pain with the nerves that register rubbing. Your emotional state, too, can have an effect. Its evolutionarily advantageous for pain gates to be wide open when youre stressed: if you were anxiously evading a predator, your body would want to let you know if you were stepping on something sharp that might hinder your ability to escape. Conversely, if you are very relaxed, your gates are less apt to be open. One of the things Srivastava and his colleagues want to explore is the extent to which Camerons pain insensitivity is the result of her peaceful state of mindand vice versa.

The second phase of Srivastavas research will include Camerons son, Jeremy, who has the FAAH mutation on one but not both alleles of the gene, and who has a high tolerance for pain. (Unlike many FAAH people, Jeremy, who declined to be interviewed, is painfully shy.) But this goes much beyond genetics, Srivastava continued. We are deconstructing pain mechanisms in Jo. Because she has sensation but no pain, she presents unique possibilities for research. We know this nerve carries that, this is how it is done, bit by bit we have progressedbut here is a golden opportunity to do it all at once, and confirm, rebut, or come up with new findings, Srivastava said. He has been contacted by doctors and scientists in Sweden, France, England, and the United States, who want to collaborate. Srivastava, who is fifty, is an impassive man, but he looked a little fretful as he talked about the research. I feel slightly overwhelmed, he admitted,like I dont have enough time in this life to properly do it.

One complicating question is how much of Camerons Cameronness is really a consequence of her FAAH mutation and FAAH OUT deletion. She has plenty of other genes, after all, and her upbringing and her early environment also played a role in making her who she is. Since the paper was published, Matthew Hill has heard from half a dozen people with pain insensitivity, and he told me that many of them seemed nuts. If you had this phenotype and werent a generally pleasant person like Jomaybe youre, like, a douche-y frat boythe way that you would process this might be entirely different. Our whole perception of this phenotype is explicitly based on the fact that it was Jo who presented it.

Srivastava is intent on solving the scientific riddles that Cameron poses. But, in a wistful moment, he suggested that the work also raised profound social questions. Spending time with her, you realize that if we only had more people like Jowho are genuinely nice, pleasant, do not give in to anger... well, he said, you know.

Misery may not be all its cracked up to be. Paul Bloom, who is writing a book about suffering, told me, Theres a big movement in psychology to say, What doesnt kill you makes you stronger. People talk about post-traumatic growth. I think a lot of it is bullshit. Look at the data: bad things are bad. You arent healthier after you have cancer or fall down a flight of steps. And its only in the movies that getting hit by a bolt of lightning turns you into a superhero; in life, it turns you into a fritter.

The entire time I spent behind the wheel in Scotland I was suffering what psychologists call an aversive experiencethat is, I was afraid for my life. The Scots drive on the left side of the road, which is already a challenge, but in the Highlands near Loch Ness there is only one lane. When another car comes barrelling at you, youre supposed to pull over on the (nonexistent) shoulder, but this can be hard to remember when you come around a sharp curvewhich happens roughly every two secondsand find yourself in the glare of rapidly oncoming headlights. I was pretty sure that one of these encounters would send me over a cliff, plummeting toward the dark water like Toonces the Driving Cat.

I relaxed slightly when I was back in Inverness, where my only foes were the baffling roundabouts, with their unique Scottish etiquette. I had just navigated such a rotary and was on a seemingly easy stretch of highway when I felt an explosion underneath me, then heard the hideous sound of metal scraping asphalt. Id hit the curb with such force that Id popped my front left tire.

I felt my blood pumping and my skin prickling, and I whipped my head around to see how many people Id killed. In the process, I scratched my forehead on the sharp corner of the seat-belt mechanism, and it hurt. There was nowhere to pull over, so I rumbled loudly onward, afraid that something worse was about to happenmind racing, pain gates open, tire rim scraping the street. I felt panic about getting to the airport, followed by irate self-recrimination (why am I such a bad driver?), then by irate spousal recrimination (why didnt he get his stinking passport renewed in time, so he could come with me on this trip and drive?). I was a wounded, furious, frantic goblin.

Then I thought about Jo Cameron, and what she would do in this situation. She would keep going until there was a place to pull over, and she wouldnt worry about how far that might be or what might happen before then, because thered be nothing she could do about it. Shed park, call the rental-car place, and take it from therecalmly, kindly, without losing her mind or her sense of humor.

Gradually, my heartbeat slowed, and I saw in the rearview mirror that the scratch on my forehead hadnt even broken the skin. I remembered something that Matthew Hill had said about how a stress response is biologically designed to reallocate energy for survivalthe goblin feelings are just a weird side effect. Cortisols main job is to boost your blood sugar, and adrenalines main job is to jack up your blood pressure, so you have fuel and a delivery method to sustain your muscles and brain in dealing with an aversive threat, hed explained. But we have so rapidly out-evolved the requirements of those processes they are almost like an evolutionary throwback. When we check a Facebook page and find out our partner has cheated on us, our brain still mounts that same biological response, even though it has zero value to us anymore. Even Hillwho told me how disastrous it would be for human beings to float through life without anxietyconceded, Maybe Jo is the next evolutionary step.

See the article here:
A World Without Pain - The New Yorker

Dr. John H. Bell was the superintendent at the Virginia State Colony for Epileptics and Feebleminded

The 2020s have arrived. Science and technology are poised to revolutionize health care, spawning moral questions we cant yet imagine. Such questions will tempt governments to mandate or prohibit new technologies. Unintended consequences will follow.

2020 marks a good time for medical professionals, ethicists and policymakers to examine events that transpired in the previous 20s the 1920s a similar period of foment. In 1920, nobody quite knew the nature of the coming medical revolution. Before the decade was out, hope turned to hubris, and public policy veered in abominable directions.

In the 1920s, scientific and political consensus led to appalling abuses of human rights, including the forcible sterilization of tens of thousands of Americans.

In teaching medical professionals, Ive always devoted a week or two to the 1920s, never telling the students exactly why we were covering this period or exactly what they were supposed to learn from it. They were left to draw their own lessons on what that period means for our own time. Ill do the same here.

First, a bit of context. From around the 1830s on, Western medicine sank into therapeutic nihilism the idea that then-existing medical interventions did more harm than good, so doctors should limit their activities to observing and comforting patients not trying to heal them. In the late 1800s, the field of statistics emerged, and researchers zealously applied new mathematical tools to the study of physical and mental illness. Knowledge grew rapidly, but confidence in that knowledge grew even faster. Therapeutic medicine was back. The 1920s produced insulin and penicillin, but it also generated an awful consensus around eugenics the highly politicized junk-science predecessor to genetics.

Eugenics was purportedly the science of good breeding. Armed with statistical tools and modern medical techniques, eugenicists believed they could and should breed a superior race of humans by encouraging fit people to mate and discouraging unfit people from procreating. In 1927, the Supreme Court signed onto this agenda.

In Buck v. Bell, the Commonwealth of Virginia argued that a young woman, Carrie Buck, her mother, and Carries infant daughter exemplified hereditary feeblemindedness. The case was built on sham science and sleazy legal shenanigans, but the Supreme Court bought the states arguments. Virginia and other states were now free to forcibly sterilize people like Buck to prevent the birth of future generations of unfit people.

Bucks mother was a suspected prostitute. Buck was judged immoral for giving birth out of wedlock (after being raped). A local nurse testified that Bucks infant daughter was somewhat peculiar somehow. These paltry facts were taken as scientific proof of genetic illness and doomed Bucks life. In the decision, Oliver Wendell Holmes penned some of the most appalling words that ever emerged from the Supreme Court:

It is better for all the world if, instead of waiting to execute degenerate offspring for crime or to let them starve for their imbecility, society can prevent those who are manifestly unfit from continuing their kind. The principle that sustains compulsory vaccination is broad enough to cover cutting the Fallopian tubes. Three generations of imbeciles are enough.

Buck v. Bell led to the forcible sterilization of more than 70,000 Americans 8,300 in my own state of Virginia. The story of Buck v. Bell and eugenics is told painfully and movingly in an eerie 49-minute 1993 documentary called The Lynchburg Story and in Edwin Blacks book War Against the Weak: Eugenics and Americas Campaign to Create a Master Race. I consider them must-watch and must-read for this topic.

People in the 1920s were thrilled by the power that statistical, pharmacological, diagnostical, and surgical innovations brought to medicine. But popular enthusiasm for these techniques led to a grotesque overestimation of the wisdom of experts and the desirability of state micromanagement of human beings.

Today, were equally thrilled by the prospects of genomic medicine, CRISPR, Big Data, and sharing intimate data through wearable devices and genetic testing companies. I myself am enthusiastic about these innovations. But the history of eugenics tempers my enthusiasm, making me wary of efforts to manipulate individual lives, based on this explosion of information. Theres reason to fear both the mandates and the prohibitions that governments will summon forth. Tread lightly.

The rest is here:
How the 1920s Can Inform the 2020s in Health Care - InsideSources

Behnam Kamalidehghan,1,* Mohsen Habibi,2,* Sara S Afjeh,1 Maryam Shoai,3 Saeideh Alidoost,4 Rouzbeh Almasi Ghale,4 Nahal Eshghifar,5 Farkhondeh Pouresmaeili1,6

1Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Central Laboratory, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; 4Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran; 5Department of Cellular and Molecular Biology, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran and Mens Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 6Mens Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

*These authors contributed equally to this work

Correspondence: Farkhondeh PouresmaeiliMens Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranTel/Fax +98 21-23872572Email pouresfar@gmail.com

Background: MicroRNAs (miRNA) play a key role in the regulation of gene expression through the translational suppression and control of post-transcriptional modifications.Aim: Previous studies demonstrated that miRNAs conduct the pathways involved in human reproduction including maintenance of primordial germ cells (PGCs), spermatogenesis, oocyte maturation, folliculogenesis and corpus luteum function. The association of miRNA expression with infertility, polycystic ovary syndrome (PCOS), premature ovarian failure (POF), and repeated implantation failure (RIF) was previously revealed. Furthermore, there are evidences of the importance of miRNAs in embryonic development and implantation. Piwi-interacting RNAs (piRNAs) and miRNAs play an important role in the post-transcriptional regulatory processes of germ cells. Indeed, the investigation of small RNAs including miRNAs and piRNAs increase our understanding of the mechanisms involved in fertility. In this review, the current knowledge of microRNAs in embryogenesis and fertility is discussed.Conclusion: Further research is necessary to provide new insights into the application of small RNAs in the diagnosis and therapeutic approaches to infertility.

Keywords: miRNA, female fertility, male fertility, piwi-interacting RNAs, piRNAs

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

See the original post:
The Importance of Small Non-Coding RNAs in Human Reproduction: A Revie | TACG - Dove Medical Press

When it was first published last week, a controversial New York Times column about the secrets of Jewish genius linked to a 2005 study from a researcher labeled an extremist, revered by white supremacists and discredited by scientists and who, for years, worked as a distinguished professor at the University of Utah.

Citing the late U. anthropologist Henry Harpending, expectedly, touched off criticism. Hours after it appeared online, The Times commentary was updated with an editors note saying it had been a mistake to mention the study, which has been widely questioned and long seen as an argument of racial superiority.

The note suggests that conservative columnist Bret Stephens did not know that Harpending promoted racist ideas. It also says Stephens was not endorsing the study or its authors views but acknowledges that his reference to the research, nevertheless, left an impression with many readers that Mr. Stephens was arguing that Jews are genetically superior. That was not his intent.

The paragraph Stephens wrote about Harpendings research has since been deleted online. And on Friday, the University of Utah deleted a complimentary memorial post from its Department of Anthropology that had said Harpendings scholarly and personal footprint will be long lasting in the field.

The U. also noted in response to the column that none of the three authors of the paper Harpending, Gregory Cochran or then-student Jason Hardy work at the school any longer. Harpending was there from 1997 until he died of a stroke in 2016.

Statements attributed to Henry Harpending that promote ideas in line with white nationalist ideology stand in direct opposition to the University of Utahs values of equity, diversity and inclusion ... " said Annalisa Purser, the universitys spokeswoman.

As such, we will meet these words with ours: Racist views and rhetoric that position one race as superior to another are inaccurate and harmful," she said. "The University of Utah is bolstered by its diversity, which allows individuals from different backgrounds and perspectives to come together to address challenges in new and creative ways.

Neither Cochran nor Hardy could not be reached by The Salt Lake Tribune for comment. Its unclear why none of the researchers faced censure while at the university for publishing the piece, though Purser added, Speech even when it is racist is protected by the U.S. Constitution and is necessary for the free exchange of ideas.

This has been a very painful time already for Jews in the United States, said Amy Spiro, a Jewish journalist whose work has been published in Variety, Jewish Insider and The Jerusalem Post. And then this column came out, she told The Tribune in a phone interview. Its just generated a lot of controversy. It doesnt seem like this is helpful in any way.

In their disputed study, the U. researchers focused on Ashkenazi Jews, or those who settled in central and Eastern Europe (as opposed to Spain or the Middle East). Among supremacists, the group is often seen as pure because many are white.

Harpending, Cochran and Hardy argue that Ashkenazi Jews have higher IQs, on average, than the general public (including other non-Ashkenazi Jews). Their theory is that in medieval times, individuals in the faith group in Europe were pushed into finance jobs because of the Christian prohibition of usury, or lending money for interest. Over time, many became rich and had more surviving children than poorer families who worked on farms. They also married within the community and stayed fairly isolated.

The University of Utah has long been known as an expert in genetic research, but this paper Natural History of Ashkenazi Intelligence is typically seen as a low point in that expertise. The authors created their own algorithm for determining genetic makeup and cited several scientists also viewed as racist.

The researchers have been criticized on and off since the study came out in 2005 and was published in The Journal of Biosocial Science the next year; that publication was previously called The Eugenics Review up until the 1970s. Eugenics is the controversial pseudo-science popular among Nazis for improving the human race by forced sterilization of poor people.

The Times piece on the study was largely uncritical beyond that; it was written by reporter Nicholas Wade, who later wrote his own book on genetics that shares some ideas with Harpending and Cochran. (Cochran had previously written about incorrect claims that being gay was caused by an infectious disease.)

The head of New York Universitys human-genetics program said: Its bad science not because its provocative, but because its bad genetics and bad epidemiology.

In a 2007 press release about later research by Harpending, the school acknowledged his 2005 paper had created a stir and that critics had questioned the quality of the science.

Harpending continued to speak, though, including at white supremacist conferences, about his also inaccurate ideas that black people are genetically prone to be lazy. His profile on the Southern Poverty Law Centers page lists him as a white nationalist and an extremist who believed in eugenics.

In other words, as an anthropologist looking around the world, he said in 2009 at the Preserving Western Civilization conference, what I see is that men work and produce things when theyre forced into it, and when theyre not, they quit. And Im thinking about, you know tribes in central Africa, but you know its true in Baltimore too, right?

His obituary noted he came to Utah from Pennsylvania State University after earning his doctorate at Harvard.

Stephens, who is Jewish, ultimately argues in his column that theres a cultural not genetic explanation for Jewish genius, stemming from Judaisms religious tradition of encouraging believers to not only observe and obey but also discuss and disagree. He also believes group members became more innovative and creative by typically being in the minority wherever theyve lived.

His original mention of the study read: The common answer is that Jews are, or tend to be, smart. When it comes to Ashkenazi Jews, its true. Ashkenazi Jews have the highest average I.Q. of any ethnic group for which there are reliable data, noted one 2005 paper. During the 20th century, they made up about 3 percent of the U.S. population but won 27 percent of the U.S. Nobel science prizes and 25 percent of the ACM Turing awards. They account for more than half of world chess champions.

That data on awards is not technically wrong, though it broadly counts anyone as Jewish who has a grandparent with ancestry in the faith.

Stephens mentioned Albert Einstein and Franz Kafka and Karl Marx as prime examples of Jewish intelligence, before asking: How is it that a people who never amounted to even one-third of 1 percent of the worlds population contributed so seminally to so many of its most pathbreaking ideas and innovations?

His use of the paper is just stunning, Kennedy told The Tribune, saying the study was obviously a main tenet of Stephens argument, and not a minor point, like the editors note suggests. I think it should have been killed before it ever got published.

In the later edits, all references to Ashkenazi Jews (which also appeared in two other places in the column) were removed. Many have questioned why Stephens referred to Ashkenazi Jews at all if he didnt agree with the paper and was generally talking about Jewish culture, and not superiority.

What was even the point of the column? Spiro asked. Its confusing.

Stephens joined The Times in 2017, after winning a Pulitzer Prize for his work at The Wall Street Journal in 2013 and serving as editor in chief of The Jerusalem Post. He has previously come under fire for bullying a professor who called him a bedbug.

Some have called for his resignation, particularly liberal readers who disagree with his more conservative pieces, but Kennedy believes the Jewish genius piece is a new low. The associate professor, who teaches ethics in journalism at Northeastern, said the commentary needed more than an editors note about the concerns raised.

Read the original here:
A New York Times column on 'Jewish genius' draws criticism for linking to a debunked University of Utah study - Salt Lake Tribune

Post Views: 417

Dating apps such as Tinder, Bumbleand Plenty of Fish (POF) are changing dating patterns and habits. Instead of traditional ways of courtship, individuals are meeting others online. Today, millions of users download such apps to connect with other singles. Matching on these apps rely on an algorithm, in which a score is assigned to each user. This score depends on the number of swipes or likes received. People with similar scores are matched together.

However, if that wasnt enough, imagine if a dating app was to determine matching based on each persons genetics. Harvard geneticist George Church announced that he has decided to partner with Barghavi Govindarajans digid8 to create a DNA-based dating app. The products end goal is to avoid the births of people who could inherit severe genetic diseases. Matches are determined by whether individuals are dominant or recessive carriers of certain genes. Incompatible or screened-out matches are those that, in the event of pregnancy between the two people, would result in severe illnesses that could lead to premature death and strenuous pain for the offspring. Approximately 5% of the matches would be ruled out, but according to Church, about 7,000 genetic diseases such as Tay-Sachs disease, cystic fibrosis, sickle cell anemia and thalassemia would be eliminated by using digiD8. This would lead to huge savings in medical costs and expenses. It would also play a significant role in affecting health and longevity in the long run.

After Churchs 60 Minutes appearance, many are outraged about the potential harms of digiD8. Many liken his idea to eugenics, a set of beliefs that promotes the improvement of the genetic quality of the human population through means of forced sterilization, breeding and extermination. This ideology was ultimately promoted by the Nazis to create a pure Aryan race. Fordham ethics professor Elizabeth Yuko claims that by having a DNA-based app, humans would be classified into a group of acceptables and another that was classified as the others. A slippery slope would emerge as trans people, people of certain races, along with the disabled and chronically sick would be further socially stigmatized. They would be targeted for being different and diversity would be reduced. Standards of perfection would also be imposed, instead of accepting the beauty in human flaws and the uniqueness in individuals appearances.

Despite that, Church claims that the app had no intentions of trying to categorize certain individuals as inferior, and that unlike eugenics, which was forced on different human beings, the app will rely on its users consent.

Like other forms of tech, there are additional concerns regarding privacy and data security. Many are unsure if the company would misuse the results for their own economic gain. App developers could utilize genetic research about complex traits to program the app for their own purposes. The data could also be sold to biomedical companies and firms without informing users.

Another valid concern pertains to data protection, as many DNA testing companies such as MyHeritage Ancestry have faced scrutiny for data breaches. The usernames, passwords, emails and account information of over 92 million users were compromised. Thankfully, no actual genetic data was leaked. If information about peoples DNA and genes were leaked, hackers could profit illegally from selling and copying genetic code, as well as individuals health histories. In the FAQ for the app, Church has stated that the app would rely on encryption and blockchain to keep the data safe.

The app is still a work in progress. When digiD8 is finally released, it will be interesting to see how people respond to it. There are some who might be interested in finding love based on genetics. Others who are less interested about reproduction might overlook such an app. Pending research would have to be done to observe the correlation between love and DNA.

Besides that, its important to observe how law will respond to this technological catalyst. How will laws address issues that arise from the dating app?

Here is the original post:
Digid8 and the Emergence of DNA Matchmaking - Study Breaks

Treatment with ambroxol a medication used to treat respiratory conditions associated with excessive mucus reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old girl with Gaucher disease (GD) type 1, a case study shows.

Titled Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease, the case study was published in the Journal of Human Genetics.

Mutations in the GBA gene in people with Gaucher alter the formation of the beta-glucocerebrosidase enzyme, which in turn leads to the toxic buildup of a lipid (fat) called glucocerebroside in the spleen, liver, lung, bone, and brain cells.

Ambroxol, an available cough and cold medicine, is known to boost beta-glucocerebrosidase activity. It works as a chaperone therapy, a type of small molecule that binds to faulty enzymes and helps them fold properly. High-dose oral ambroxol also has shown promise in easing the neurological symptoms of patients with GD type 3.

Enzyme replacement therapy (ERT) has been the mainstay treatment for people with GD type 1. It has led to significant improvements in complications such as the abnormal enlargement of abdominal organs, called hepatosplenomegaly, and blood disorders. However, it has shown limited efficacy to the progressive skeletal manifestations in GD, the researchers said.

A team from China now described the case of a 5-year-old girl with complaints of severe pain in both legs, which restrained her from walking independently. According to her parents, the child had intermittent GD-related bone crises over two years. These were worse in the winter and eased upon several days of rest.

Clinical examination revealed enlargement of the girls spleen and liver. Imaging showed that both femurs, or thighbones, had aseptic necrosis, meaning that the bone tissue had died due to lack of blood supply. Aseptic necrosis is a well-known skeletal complication in GD.

Results of abone marrow biopsy and a measurement of beta-glucocerebrosidase activity levels were consistent with a diagnosis of GD. Genetic testing showed the girl had two distinct mutations in the GBA gene.

Given her age and manifestations, ERT and substrate reduction therapy were both contraindicated. After obtaining parental consent, doctors enrolled the patient in a compassionate use clinical protocol for ambroxol.

The girl received up to 15 mg/kg of daily ambroxol for three years without any side effects. No further bone crisis was seen after treatment initiation. Importantly, ambroxol reduced liver and spleen volume, and slightly increased white and red blood cell counts after two years.

In addition, disease severity gradually decreased after almost three years, as measured by the blood activity of chitotriosidase, a GD biomarker.

Annual imaging also showed a reversal of damage in the top part of the girls femurs, allowing the near-normal growth of the femoral heads.

Cellular assays revealed increased activity of beta-glucocerebrosidase in the patients lymphocytes, a type of white blood cell. The scientists suggested that ambroxols small size might contribute to its efficient penetration into bone tissue as indicated by the observed skeletal improvements.

In conclusion, this is the first report describing the therapeutic effects of oral ABX [ambroxol] on the bone and hematological manifestations of a child with an established [GD1], the scientists said.

Randomized and controlled clinical trials are necessary to further assess and confirm these findings, they added.

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

Total Posts: 24

Jos is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimers disease.

View original post here:
Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows - Gaucher Disease News

The study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

A decade ago, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. Their findings ushered in a new decade of discovery and understanding. The sequence was not only a marvel of new technology; it shed light on a debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.Paleogeneticists are also digging into ancient genomes looking for biological answers to those questions.

But piecing together a fuller story will take a multidisciplinary approach.Im done with who questions, says archaeology professor John Shea. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how.

Human origins research. The phrase probably evokes an image of dusty scientists hunched over in the sun, combing the ground for scraps left behind by people of millennia past. The field has long been the realm of stones and bones, with test tube-filled laboratories playing second fiddle.

But thats changing. Paleoanthropology has found a second home in the lab, as geneticists have joined the field, extracting DNA from fossils in search of new insights into early human history.

Its white coat science, says John Shea, a professor of archaeology at Stony Brook University. Its not bluejeans and khaki shirt science.

Over the past decade, the study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

I cant tell you how many times Ive had to rewrite lectures because of new paleogenetics revelations, says Jennifer Raff, an anthropological geneticist at the University of Kansas. I cant wait to see what the next decade brings.

Ancient DNA, or aDNA, was just beginning to catch on when Dr. Raff finished her dual Ph.D. in anthropology and genetics in 2008. Fragments of ancient genomes were being sequenced, analyzed, and discussed. But Dr. Raff was unsure if science could ever recover full genomes from long back in time.

But then it happened. The following year, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. They published their findings in May 2010 in the journal Science, ushering in a new decade of discovery and understanding.

The sequence was not only a marvel of this new technology; it shed light on a long-standing debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.

For decades, scientists categorized hominins based on the differences in the shape of their bones. But DNA has brought a faster way to get more definitive answers about the identities of ancient peoples.

Im done with who questions, Dr. Shea says. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how. How did a group of ancient people move across a forbidding landscape? How did they survive through frigid winters?

Those questions can help to animate our view of the past, and deepen our understanding of where we come from. Paleogeneticists are digging into ancient genomes looking for biological answers to those questions, too, but piecing together a fuller story will take a multidisciplinary approach, says Dr. Raff.

Theres a whole field of anthropology that talks about what makes us human, and thats not just our biology, she says. Its also culture and technology and behavior and ecology. Theres just so much that goes into understanding the past.

The revelation that Neanderthals interbred with early Homo sapiens has raised some fundamental questions about what it means to be human.

Traditionally, the line between species is defined by whether they can interbreed and produce viable offspring that can, in turn, produce viable offspring. But, due to similarities in the bones and now the genetic evidence, some anthropologists have labeled Neanderthals as Homo sapiens neanderthalensis and anatomically modern humans as Homo sapiens sapiens.

One such researcher is Fred Smith, professor emeritus of anthropology and biology at Illinois State University. He argues it from a morphological point of view, too.

You would never mistake a Neanderthal for anything but a human, Dr. Smith says. It might not be a human that youd like to go on a blind date with, but if you saw one, you wouldnt think of it as not being human.

By that logic, many researchers refer to other members of the genus Homo as human, too. But some say it might be our understanding of speciation that needs revising, not the distinctions among species in the genus.

The pattern of evolutionary thinking is that you have a point in time where two lineages diverge, after which they do not cross again, says Rick Potts, director of the Smithsonian National Museum of Natural Historys Human Origins Program.

But that branching model of evolution and speciation is proving to be too simplistic across biology, with hybridizing appearing among present-day creatures, too. Evolution and the formation of species are a process, not an event, he says.

Regardless of whether we can call Neanderthals one of us, the revelation of prehistoric trysts between the two peoples has changed our perception of those other humans.

Get the Monitor Stories you care about delivered to your inbox.

Before ancient DNA came on the scene, Neanderthal was often lobbed as an insult and sometimes still is. When archaeologists suggested that they had found Neanderthal art and musical instruments, they were dismissed quickly, as the logic went that only Homo sapiens could have the cognitive abilities for that level of creativity. But with the revelation that we are similar enough to them that we could interbreed, that kind of research has been entertained and discussed more frequently.

I think it gives a very important correction on those who would see the Neanderthal simply as incapable of thought, incapable of being clever, Dr. Potts says. And it also, I think, gives a bit of humility to ourselves for those who are willing to look at it.

Read this article:
Etched in DNA: Decoding the secrets of the past - Christian Science Monitor

Fertility expert Marcelle Cedars discusses the future of reproductive medicine.

By Ariel Bleicher UCSF Magazine

Advances in medicine and public health have dramatically extended the human lifespan. Our hearts, lungs, and other vital organs now last 79 years on average. For women, however, the ovaries which stop functioning at an average 51 years remain a stubborn exception. That may soon change, says fertility expert Marcelle Cedars, MD, during a conversation on the future of reproductive medicine.

There are two aspects. One is qualitative. As a woman ages, the quality of her eggs meaning their capacity to make a healthy baby declines. We understand very little about what causes this decline. If we understood that process better, we could dramatically impact fertility success rates.

The other aspect is quantitative. Women are born with a finite number of eggs, and they lose those eggs throughout their lifetime. In fact, that rapid decline in egg numbers starts even before birth. Theres a peak in utero of five to six million eggs. At birth, a woman has only about 1.5 million eggs; at the time of puberty, about 500,000. Through genetics research, were learning that the rate of this decline and the variability from woman to woman is largely driven by ones genes.

Exactly. But what if we could use your genetics and other biological data to understand your unique fertility risks and develop therapies specifically for you or for groups of women like you? This approach is called precision medicine. It has made a huge impact in the world of cancer in terms of improving survival rates. But in the field of reproductive health, precision medicine is still in its infancy.

Potentially. If we can pinpoint the mechanisms of ovarian aging, we could potentially develop a therapy that enables you to still have healthy eggs into your 50s, possibly your 60s. But just because we can do something doesnt always mean we should do it. We know that as women get older, pregnancies are more complicated. You have higher risk for things like high blood pressure, diabetes, and preterm labor. There are many downstream implications, both for the mothers health and the childs.

I dont think the goal should be to enable women to get pregnant into their 60s. Rather, we want women to have the best reproductive lifespan possible to be able to have children when they want to and to not have children when they don't want to and to have a society that supports women across that spectrum.

Were starting to believe that some of the same cellular mechanisms that underlie general aging might also control ovarian aging. This revelation makes the ovary even more interesting to study because its early demise could be a unique window into the bodys aging process. If we can identify cases of accelerated ovarian aging and understand the underlying causes, we might be able to improve not only reproductive function in individual women but also overall health and longevity for all women.

Samesex couples having genetically related children is probably on the horizon. Scientists are learning how to take skin cells or blood cells and turn them into stem cells, which can then be turned into eggs or sperm. Thats not science fiction; its already happening. We just need to figure out how to do it well and safely in humans.

Well probably also see germline engineering. Thats the process of editing genes in reproductive cells or embryos. It has the potential to cure disease before birth. This technology is here. But will society be ready to accept it? A lot of questions need to be answered before its put to use. In addition to technical hurdles, there are innumerable social issues. For instance, if we can eliminate a certain disease, will there be less focus on treatments for people who still have the disease? And what about access to care and social equity? Who would be able to afford these procedures? How will they be applied?

Restrictions are currently preventing the U.S. government from funding research that involves the manipulation of human embryos. As a result, funding for reproductive science is low, which has driven a lot of experts out of academia. If we want to see a revolution in reproductive health, like whats happening with precision cancer medicine, we need to invest in the development of scientific knowledge that will move this field forward.

Go here to read the rest:
The End of Infertility Is in Sight - UCSF News Services