Category Archives: Human Genetics

UK-based Oxford Nanopore has obtained a licence to CRISPR-Cas9 IP for nanopore sequencing, a third-generation approach used in the sequencing of biopolymers.

Oxford Nanopore, which specialises in DNA/RNA sequencing technology, announced the non-exclusive licence agreement with biotech company Caribou Biosciences yesterday, September 19.

Caribou was founded by scientists from the University of California, Berkeley, including CRISPR pioneer Jennifer Doudna.

Gordon Sanghera, CEO of Oxford Nanopore, said: The Cas9 technique will enable users to select and isolate the regions of the genome they are most interested in, including those not available to existing methods, ready for rapid analysis using our long-read, real-time sequencing technology.

According to the company, Cas9 enrichment with Oxford Nanopore sequencing enables scientists to cost-effectively sequence targeted regions that were not accessible previously.

Sanghera added: The entire library preparation process takes less than two hours so if combined with our portable sequencer MinION, this has the potential to open up fast-turnaround, near-sample testing in new ways.

In October last year, Amgen invested 50 million ($66 million) in Oxford Nanopore, as part of Amgens focus on using human genetics to deliver new medicines to patients.

Earlier in 2018, Oxford Nanopore announced it had raised 100 million from global investors, to be used to support the companys next phase of commercial expansion, including a new high-tech manufacturing facility in Oxford.

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Oxford Nanopore, CRISPR-Cas9, Caribou Biosciences, Jennifer Doudna, gene-editing, genetics, nanopore, University of California,

Continued here:
Oxford Nanopore signs CRISPR licence - Life Sciences Intellectual Property Review

Overnutrition during early infancy can have adverse health consequences later in life. Although researchers have known this for quite some time, the explanations have been hard to come by. At Baylor College of Medicine, the laboratory of Dr. Robert A. Waterland has provided a new answer to this old question.

Its been known for several decades that mice that are overnourished during the suckling period remain overweight and will be prone to disease for their entire lives. Particularly, they have problems regulating their blood sugar levels, said corresponding author Dr. Robert A. Waterland, professor of pediatrics nutrition at the USDA/ARS Childrens Nutrition Research Center at Baylor College of Medicine and Texas Childrens Hospital and of molecular and human genetics at Baylor.

Previous studies also have shown that patients with Type-2 diabetes have altered DNA methylation, the addition of methyl chemical groups, in their insulin-producing pancreatic islets. These alterations have been linked to islet malfunction and the onset of diabetes, but how they occur remains a mystery.

Looking to shed light on this important topic, Waterland and his colleagues investigated whether early postnatal overnutrition could alter epigenetic development in murine pancreatic Islets of Langerhans, which produce insulin and other hormones.

Epigenetics refers to molecular mechanisms that determine which genes will be turned on or off in different cell types. Think of ones DNA as the computer hardware, and epigenetics as the software that determines what the computer can do. Epigenetics works by adding or removing chemical tags on genes to mark those that should be used. DNA methylation is one of the better studied tags and plays an important role in development.

The researchers worked with two groups of mice, one was overnourished during infancy and the other was not and represented the control group.

Adjusting litter size during the suckling period provides a natural means to overnourish mouse pups, said Waterland, who is a member of the Dan L Duncan Comprehensive Cancer Center at Baylor. Normal size litters have about 10 mice, and served as our control group. The overnourished group came from moms whose litters were reduced to only four pups each. These pups get an all you can eat buffet and become overweight by the time of weaning.

But weight was not the only difference between the two groups of pups. The researchers applied genome-scale DNA methylation profiling to islets of overnourished and control mice at both 21 days (weaning) and 180 days after birth (considered middle-age for mice).

The results revealed that islets from control mice tended to gain DNA methylation as they aged. Compared to controls, however, islets of overnourished mice showed increased DNA methylation right at weaning. Unexpectedly, there was a substantial overlap between the DNA methylation profile of middle-aged controls and that of the much younger 21 day old overnourished mice.

By the age of weaning, islets of overnourished mice show an epigenetic profile resembling that of much older mice, Waterland said.

Our interpretation is that postnatal overnutrition causes accelerated epigenetic aging in the islets. Since the ability to regulate blood sugar declines with age, this premature epigenetic aging may help explain how overnutrition during infancy increases the risk of diabetes later in life.

Diabetes is a serious, pervasive health concern worldwide. According to a 2017 report from the Centers for Disease Control and Prevention, 9.3 percent of the U.S. population about 30 million people are afflicted with the condition, which increases the risk of serious health complications including premature death, vision loss, heart disease, stroke, kidney failure and amputation of toes, feet or legs.

In these days of escalating pediatric overnutrition and obesity, we urgently need to understand the adverse consequences of overnutrition in human infancy. I believe that optimizing nutrition during these critical periods of development will prove to be an effective approach to prevent adult disease, Waterland said.

Read all the details of this work in the journal Environmental Epigenetics.

Other contributors to this work include first author Ge Li, Tihomira D. Petkova, Eleonora Laritsky, Noah Kessler, Maria S. Baker and Shaoyu Zhu, all at Baylor.

This project was supported by grants from NIH/NIDDK (1R01DK081557), USDA (CRIS 3092-5-001-059) and from the Thrasher Research Fund (NR-0136).

By Ana Mara Rodrguez, Ph.D.

Originally posted here:
Early postnatal overnutrition sets the body on a fast-track to aging - Baylor College of Medicine News

Native Americans have been visiting Calvert Island off the Canadian coast for more than 10,000 years. (Credit: Pacific Northwest Sailing/Shutterstock)

Humans have long found comfort on Calvert Island, just off the coast of mainland British Columbia. For millennia, they have climbed the islands rocky outcrops, walked through its rainy conifer forests, and waded through its chilly intertidal pools to collect crabs, mussels, and other marine life.

There, in 2014, a group of Canadian researchers uncoveredhuman footprintspressed into a prehistoric layer of soil. The footprints, 29 in total, are the oldest found in North America. They suggest an intimate scene in which, 13,000 years ago, at least three people may have hopped out of a boat onto the damp shore. One person appears to have slipped as the group walked toward drier land. The footprints also speak to a much larger and contested storythe tale of the humans who first set foot in North America.

North and South America were relatively lonely places for our species 13,000 years ago. The continents were the last major landmasses in the world to be populated byHomo sapiens. But the explanation of how and when this peopling happened has needed to be heavily revised in the last two decades.

This field is bonkers right now, says anthropological geneticist Jennifer Raff of the University of Kansas. I think theres a new important paper coming out every three or four months. Indeed, no tidy, new framework has arisen to take the place of older theories. Instead, new data, including genetic findings, continue to complicate the story of how these continents came to be peopled.

As San Diego State University archaeologist Todd Braje puts it, We know less about the peopling of the New World now than we did 20 years ago. (Or, as Raff puts it, we know more but are less united in a single consensus model.)

But such complications could be a good thing. The lack of consensus has pushed researchers to delve into evidence on the continental shelf and other unexpected places as they craft new narratives. In the process, non-Native scientists are also considering a long-neglected but critical perspective in this discussion: that of Native Americans.

Not so long ago, many researchers believed they had an adequate explanation for the peopling of the Americas. A single theory dominated much of the 20th centurys thinking on this question.

In 1932, geologist and archaeologist Edgar B. Howard got wind of noteworthy mammalian fossils coming from a site called Blackwater Draw in New Mexico. A construction crew had exposed an extensive deposit of bison and mammoth bones, and there Howard found spear points and other human artifacts scattered among the remains of extinct megafauna, including mammoths, camels, and bison.

Howards discoveries came at a time when researchers were only beginning to appreciate that humans were in the Americas during the last ice age, which ended around 10,000 years ago. In the years to follow, archaeologists would unearth sleek, fluted spear points, just like the ones found at Clovis, across North America. These artifacts came to be known asClovis pointsand were the ice age equivalent of the spread of Coca-Cola or baseball caps, as archaeologist Tom Dillehay wrote in his bookThe Settlement of the Americas. The Clovis-style spear points thus came to be linked to people whom archaeologists considered the first Americans.

Where did the people responsible for these artifacts come from? It was long a commonplace belief among anthropologists that ancestral Native Americans descended from people living in Asia who crossed into the Americas over a now-submerged open tundra bridging Russia and Alaska, the Bering Land Bridge, also known as Beringia.

From there, these people were thought to have traversed a narrow passage between glaciers covering Alaska and Canada that only opened up about 13,500 years ago. The prevalence of Clovis-style spear points, which generally date between 13,250 and 12,800 years old, suggested that the first people in the Americas spread quickly after their arrival. Scientists broadly referred to this narrativeencompassing not just the cultural artifacts but also the time frame and land bridgeas the Clovis-first model.

The theory hit a steady stream of challenges in subsequent years, but most werent taken too seriously. More than 500 archaeological sites in North and South America had been claimed to have been older than Clovis, and each of them had a Warhol-esque 15 minutes of fame until some fatal flaw was detected, says Jim Adovasio, director of archaeology at the Senator John Heinz History Center in Pittsburgh, Pennsylvania.

Eventually, though, genuine cracks appeared in the Clovis-first model. In 1976, Dillehay was teaching at the Universidad Austral de Chile, Valdivia, when a student approached him with a mastodon molar found in a creek bed at the waterlogged site of Monte Verde in south-central Chile. Dillehay says he was initially uninterestedhe had come to study Andean ceramic culturesbut when the student returned with ribs that appeared to have cut marks and burn scars, Dillehay was intrigued. The bones suggested Monte Verde might be an archaeological site.

Years of subsequent excavation at Monte Verde uncoveredundeniable tracesof a human presence, preserved under peat. Researchers have confidently dated the most substantial cultural layer to about 14,500 years before the present dayat least 1,000 years older than the Clovis-first model would predict. We now know that people slept there under a long, tent-like structure made of wood and animal hides and sat around communal hearths eating potatoes and seaweed brought from trips to the coast.

Clovis-first, like any scientific theory, always had detractors. But until archaeologists confirmed the age of Monte Verde and other pre-Clovis sites in the Americas, the most vocal objections were generally outliers. In 1997, Monte Verde was inspected by a delegation of archaeologists, many of whom had questioned its purported age. They left in agreement. As Alex Barker, then chief curator of the Dallas Museum of Natural History, wrote in his report: Monte Verde is real. Its old. And its a whole new ball game.

In the last two decades, a handful of other sites, in North America especially, have gained wide acceptance as authentically pre-Clovis. Unlike the Clovis sites, most of these older sites have no distinct artifacts to connect them.

At Oregons Paisley Caves, archaeologists have dated fossilized human feces to 14,300 years ago. The Meadowcroft Rockshelter in Pennsylvania, which Adovasio began excavating in the 1970s, has a human history that may stretch back at least 16,000 years. Beneath the Clovis layers along the shores of Buttermilk Creek in Texas, researchers have found thousands of stone tool fragments dating back 15,500 years. At a site called Arroyo Seco 2 in the Pampas grasslands of Argentina, archaeologists have found 14,000-year-old butchered animal bones.

As researchers validate these finds, studies are chipping away at the story many of us read in textbooks. For one, the idea of a single pioneering population may have been a mistake. Its probably more like a dripping faucet where people are coming in at different times, from different directions, Dillehay says.

Most archaeologists would now agree that there were widely scattered, small but culturally diverse groups of people living in the Americas at least one or two millennia before the emergence of Clovis spear points. That estimate, then, placing people in the Americas roughly 15,000 years ago, is among the most conservative.

As the Clovis-first model has fallen out of favor, evenbolder chronologieshave emerged. For example, one group of scientists has made a case that they have uncovered evidence ofhumans butchering megafauna130,000 years ago at what is now called the Cerutti mastodon site in Southern Californiathough many archaeologistshave contestedthat argument. In anarticle forScience, Braje, Dillehay, and a few other colleagues wrote that the collapse of the Clovis-first paradigm has opened a Pandoras box of alternative scenarios for the peopling of the Americas, with some scholars and members of the general public quick to accept implausible claims based on limited and equivocal evidence. They cited the Cerutti mastodon site as one such example.

Genetics, meanwhile, has brought a daunting deluge of new findings, which also shed light on how and when entire lineages of people moved across continents. Genetic markers from theDNA of a childburied in what is now Alaska around 11,500 years ago, for instance, recently revealed that she shared equal DNA with all Indigenous populations in the Americas. The authors concluded she was likely descended from a population that stayed in Beringia, instead of spreading through the lower continents.

Genetics, meanwhile, has brought a daunting deluge of new findings.

The basic story some geneticists have gleaned from this and other finds is that a so-called Beringian population would have diverged from Siberian populations around 36,000 years ago. About 25,000 years ago, the Beringians became isolated, and a new genetic population emerged, one that scientists have confirmed relates to contemporary Native American people, splitting into two main lineages around 17,000 years ago.

Still, the genetic record is limitedthere are only a handful of ice age human remains that have been studiedand archaeological data are needed to both confirm that story and fill in the ancient roadmap that humans first took across these continents.

For example, theres a curious snag: The genetic data suggest one population may have spent thousands of years in Beringia, a period known as theBeringian standstill, before spreading into the Americas sometime during the Last Glacial Maximum between 27,000 and 19,000years ago.

Yet were not finding archaeological evidence of that, says genetic anthropologist Ripan Malhi of the University of Illinois, Urbana-Champaign. Without archaeological finds to back this standstill up,some researchers remain skepticalof the genetic evidence.

The route that people took is also a matter of debate. Some archaeologists remain firm that humans could have walked into North America over land, although some maintain that this route would have been prohibitively ice-covered more than 13,500 years ago.

An alternate scenario has gained traction, one that claims people first arrived on boats. According to this coastal migration theory, some 16,000 years ago the ice had retreated from the coastlines of the Pacific Northwest, such that seafaring people could take advantage of coastal resources like kelp forests to navigate all the way down the shores of California, eventually reaching sites like Monte Verde in Chile.

Proving the coastal theory is tricky. No wooden boats from that era have been found along the shore. The earliest campsites along the ancient Pacific coastline may be lost for good due to erosion and sea level rise. Yet scholars have some clues that people were living along the Pacific coast, including the footprints at Calvert Island.

Evidence of human habitation from at least 13,000 years ago on the Channel Islands in California suggests that people had the skills to build boats and reach these land masses, which were islands even then. In the last 15 years, archaeologists at Cedros Island off the coast of Baja California in Mexico have found traces of a nearly 13,000-year-old settlement. Some archaeologists, such as Loren Davis of Oregon State University, are turning to methods such as coringremoving of a long column of soilto search for hints of now-underwater prehistoric sites along the Pacific continental shelf.

Finally, many non-Native scientists are starting to appreciate that their findingshave implicationsfor Native American communities, who have had to square theirown cultural narrativesand more recent stories of displacement with scientific messages of how their distant ancestors came to the continents.

Native American scholars and activists were among the most vocal critics of the Clovis-first modelin particular the implication that Native Americans came to the continents over the Bering Land Bridgefrom the time it was first proposed. For example, in his 1995 bookRed Earth, White Lies, Vine Deloria Jr., the late Standing Rock Sioux lawyer and scholar, dismissed that migration description as scientific folklore.

Language creates reality for the world, Kim TallBear says.

To some, the scientific origin story was perceived as a means to undermine the long-term presence of Indigenous peoples on the land. After all, emphasizing how people first migrated to the Americas from elsewhere can be used to subtly imply a similarity between the ancestors of Native Americans and the European explorers millennia later. The science can be twisted to imply the land was not really that of the Indigenous peoples. Doing so downplays the real trauma and theft that occurred when European colonists took the lands of Indigenous peoples.

I think subconsciously or not so subconsciously theres this immigrant narrative, that we are all immigrants, that drives the possibilities for how scientists and how a lot of non-Indigenous people see human history on this continent, and they are really stuck in that narrative, says Kim TallBear, of the University of Alberta, who has studied the politics of tribal genetics and is a member of the Sisseton Wahpeton Oyate.

TallBear would also like to see non-Native scientists and writers think through their choice of words. Language creates reality for the world, she says. For example, referring to certain ancestral populations as first Americans or to the land as the New World can reinforce the narrative that, on some level, the Indigenous people of the Americas came from somewhere else in the recent past.

Furthermore, narratives about the first people in the Americas, TallBear notes, whether written by scientists or science journalists, tend to focus on very mechanistic and simplistic motivations for the migration, such as a search for food. She citesan articleinMacleansmagazine, for example, that presented the earliest arrivals in North America as a bedraggled group that trudged across a submerged Bering land bridge.

Intellectual reasons or reasons of curiosity, TallBear says, are ignored, as though these people had no inner life. Theres all this language that paints people on the move and migrating as if they werent these fully self-actualized human beings who also had curiosity, who laughed, who had interesting kinship dynamics, who had joy in their lives.

Fortunately, some non-Native archaeologists and geneticists arebecoming more sensitiveto the concerns of Indigenous people. My job is not to tell Native groups who they are, Davis says. They already have their own origin stories that they have been in this place forever and ever.

Scientists, Davis observes, try to fill those stories with numbers, quantifying how many years ago, for instance, people came to the Americas. From the perspective of human existenceits like, 15,000 years? I have a hard time wrapping my head around what it means to live in a place that long. That sounds qualitatively like forever, he says.

By working with Indigenous communitiesand by increasing the number of Indigenous people who are archaeologistsscientists can avoidsome of the pitfallsandnarrative blind spotsof their predecessors. These changes can also significantly further science, as the Calvert Island findings illustrate.

When scientists from the Hakai Institute and the University ofVictoria started excavations on the island, they did so alongside representatives of the Heiltsuk and the Wuikinuxv people. Those Indigenous groups have oral histories about a strip of coast that never froze and helped their ancestors survive at a time when much of the land was covered in ice. The discovery of the footprints reaffirmed this tradition. One member of the Heiltsuk NationtoldThe Washington Posthe imagined the people visiting the beach were a father, mother, and child.

Its impossible to know what they were thinking or doing that day, 13,000 years ago. Maybe the mother paused to help her child out of the boat. Maybe she laughed when her partner slipped on the damp clay. Perhaps she caught his fall. Maybe she sniffed the air that stank of low tide and squinted at the ice-covered land in the distance. Maybe she had been to this beach many times before or had heard stories about it from other members of her tribe. Or maybe, as she looked inland, she wondered if she was the first person to set foot on this shore.

See the article here:
When Did Humans Reach North America? The Question Keeps Growing More Complex - The Crux - Discover Magazine

The Hinckley Institute Radio HourThis week on the program, we bring you a forum on the Abuelas de la Plaza de Mayo, a group formed in 1977 to locate and reunify with their grandchildren disappeared during the Argentinian dictatorship. This organization of women championed a matriarchal politics and began a legal, psychological and scientific movement to address the injustices and intergenerational traumas of the past. Critical to this effort was the combination of humanitarian justice, cutting edge genetic testing and international scientific exchanges that found 128 of the lost children.

This movement stands out as one in which the quest for human rights fueled scientific development and technological advancement. The genetic research conducted in Argentina would go on to advance the global study of genetic and forensic testing, popularized today by DNA testing companies like 23andMe and AncestryDNA. For their work in defense of human rights, the Abuelas de la Plaza de Mayo received the Flix Houphout-Boigny Peace Prize in Paris in September of 2011.

Giving the talk is Alexandra Minna Stern, Professor and Chair of American Culture, Professor in History, Womens Studies, Obstetrics and Gynecology in the College of Literature, Science and the Arts at the University of Michigan.

This forum was presented by the International Studies Programs Health, Medicine, and the Environment Lecture Series and made possible thanks to the support from the Center for Latin American Studies.

This forum was recorded on April 8, 2019.

Podcast: Play in new window | Download (57.0MB)

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Read this article:
Genetics and Justice: DNA Identification Technologies in Post-Dictatorial Argentina - KCPW

SOUROUKOUDINGA: Scientists in Burkina Faso have deployed a new weapon in the fight against malaria, and waded into a thorny bioethics debate, by letting loose thousands of genetically sterilized mosquitoes.

Their experiment is the first outside the lab to release genetically altered mosquitoes in the hope of reducing their ability to spread the often deadly disease.

It works using a technique called a gene drive, which edits and then propagates a gene in a population - in this case to prevent males from producing offspring.

Investments in anti-malarial drugs, mosquito nets and insecticides have slowed malaria over the past two decades in Africa, which accounts for more than 90% of global cases.

But malaria still killed more than 400,000 people across the continent in 2017, and the World Health Organization says progress against the disease is stalling, leading researchers to push for fresh approaches.

"The conventional tools that we have at our disposal today have reached their limit," said Dr Abdoulaye Diabate, who is running the experiment for Target Malaria, a research consortium backed by the Bill & Melinda Gates Foundation.

One hot evening in July, Diabate's researchers peeled off mesh nettings from wire-rimmed containers to release about 5,000 male mosquitoes into Souroukoudinga, a village in western Burkina Faso.

The mosquitoes had been injected as embryos with an enzyme that sterilizes them.

"Our objective is not to eradicate mosquitoes," said Diabate, noting the enzyme targets only the three main species - out of more than 3,500 worldwide - that carry malaria. "The objective is . . . to reduce the density of these mosquitoes."

Target Malaria is also developing an enzyme preventing male mosquitoes from passing on X chromosomes. This results in male offspring, reducing malaria since only female mosquitoes bite - males mostly feed off plant honeydew.

Diabate said he hoped the new approaches would win approval from national regulators in the coming years for widespread use.

Using a gene drive proved effective in lab experiments at Imperial College London, where researchers last year said they had succeeded in wiping out populations of caged mosquitoes within 11 generations.

"GUINEA PIGS"

Activists in Burkina fear unintended environmental consequences.

They point to Burkina's experiment with genetically-modified cotton a few years ago, which farmers said had lowered quality and was ultimately abandoned in favor of conventional seeds.

"We are not going to allow Burkinabes to be used as guinea pigs," said Ali Tapsoba, a Burkinabe activist.

"If we intoxicate one link in the food chain, we are going to intoxicate the next link."

Those concerns echo beyond Burkina. Last November, signatories of a United Nations convention on biodiversity noted "uncertainties regarding engineered gene drives."

Critics of gene drives fear they could be used to manipulate human genetics, or develop a bio-weapon.

Researchers in Brazil have also released genetically modified mosquitoes in an attempt to control diseases like yellow fever and Zika, but it is not clear how effective that has been.

Target Malaria says it consults with communities and that research is overseen by national regulatory authorities and an independent ethics committee.

Two months after the mosquitoes were released, Souroukoudinga chief Pascal Traore told Reuters villagers were happy with the experiment's progress.

"We all believe that the project could reduce the malaria that kills our sons and daughters," he said. "This project is not just for us, but for the entire world."

Get the best of News18 delivered to your inbox - subscribe to News18 Daybreak. Follow News18.com on Twitter, Instagram, Facebook, Telegram, TikTok and on YouTube, and stay in the know with what's happening in the world around you in real time.

The rest is here:
Scientists Release Sterile Mosquitoes in Burkina to Fight Malaria - News18

A study by researchers from the Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR) and the National Institute of Mental Health and Neurosciences (NIMHANS), in Bengaluru, identifies two specific genes which may be related to bipolar disorder, a neuropsychiatric disorder that has been studied widely.

While there are strong indications that genetics plays a role in it, the specific genes whose mutations result in the individual being affected are difficult to identify. In a paper published recently in the journal Bipolar Disorders, the team describes their decade-long work studying four generations of a family with several members in each generation affected. In all, 28 members of one family were genotyped, and of these 11 were affected by bipolar disorder.

When asked about the challenges involved in carrying out the study, Prof. Anuranjan Anand, from JNCASR, an author of the paper, says in an email to The Hindu, A variety of genetic parameters and models of the disorder needed to be tested. Further, disease-gene mapping is very sensitive to genetic parameters and defining this in a psychiatric disorder like BPD is a challenge.

Bipolar disorder is an illness that affects about 0.8% of the global population. Also known as manic-depressive illness, it is characterised by mood swings, irrational behaviour and phases of mania or extreme highs, and at other times, phases of depression. The figures in India are not definitely known due to lack of reporting and diagnosis and poor documentation. However, judging by the global estimate, a significant number of Indians could be affected by this disease.

If in a family there are multiple members with the disorder, then what is shared among the ill members, and not shared by the unaffected members may help identify the gene, says Dr Sanjeev Jain from NIMHANS, one of the authors of the paper. However, since the human genome is over three billion base pairs [long], we use a number of markers to identify which region of the genome is shared, and look up the gene in that region. He is quick to clarify that with psychiatric genetics, not all those at risk may develop the disease.

The experiment involves doing thousands of genotyping reactions and a large amount of sequencing of reactions for a large family with several affected members, says Prof. Anand.

The group identified regions within chromosome 1 and chromosome 6 and, subsequently, found that variants of two genes (KANK4 and CAP2) were the likely candidates.

We sequenced all the genes in the region, compared them to databases of the world, and of south Asians, and control samples from here, as well as other patients from here, and then zeroed in on the two variants, says Dr Jain.

KANK1, one of the KANK family of genes, has been implicated in cerebral palsy, spastic quadriplegia-2 and steroid resistant nephritic syndrome, according to the authors of the paper. Other genes in the KANK family have been linked to diseases, so it is likely that this variant in KANK4, too, may be linked to disease, says Dr Jain.

The authors also describe that these mutations in KANK4 and CAP2 are rare variants. These occur in less than 1% of the population, often fewer than one in a thousand. As Prof. Anan puts it, Today there are nearly 150 families across the world with structures like this. These give us a toe-hold into biology, illuminating clinical molecular mechanisms involved.

The study suggests understanding the consequences of this variation in biological processes in the brain and further analysis of these two genes in people with bipolar disorder will be beneficial and help understand the biological aspects of the disease.

Original post:
Genes implicated in bipolar disorder identified - The Hindu

What did prehistoric teens look like? Thanks to some scientists atHebrew University in Israel, we now have some idea.

The researchers were able to reconstruct our human ancestor's face with DNA found in the pinky bone of a 13-year-old girl who died tens of thousands of years ago.

Known as aDenisovan, the girl was a member of a species of ancient human that is similar to the Neanderthals.

"This is the first time that we provide a detailed anatomical reconstruction showing us what these humans looked like," said Hebrew University genetics professor Liran Carmel.

According to scientists,Denisovan DNA is believed to have helped modern-day Tibetans live at high altitudes as well as contributed to the Inuits' abilities to withstand shockingly cold temperatures.

Check out the video above for more.

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Read this article:
DNA Found in 70000-Year-Old Pinky Bone Gives 1st Glimpse of Ancient Human Relative - Inside Edition

Scientists in Burkina Faso have deployed a new weapon in the fight against malaria, and waded into a thorny bioethics debate, by letting loose thousands of genetically sterilized mosquitoes.

Their experiment is the first outside the lab to release genetically altered mosquitoes in the hope of reducing their ability to spread the often deadly disease.

It works using a technique called a gene drive, which edits and then propagates a gene in a population in this case to prevent males from producing offspring.

READ MORE: How science could wipe out disease-carrying mosquitoes and save lives

Investments in anti-malarial drugs, mosquito nets and insecticides have slowed malaria over the past two decades in Africa, which accounts for more than 90% of global cases.

But malaria still killed more than 400,000 people across the continent in 2017, and the World Health Organization says progress against the disease is stalling, leading researchers to push for fresh approaches.

The conventional tools that we have at our disposal today have reached their limit, said Dr Abdoulaye Diabate, who is running the experiment for Target Malaria, a research consortium backed by the Bill & Melinda Gates Foundation.

WATCH: The worlds deadliest predator

One hot evening in July, Diabates researchers peeled off mesh nettings from wire-rimmed containers to release about 5,000 male mosquitoes into Souroukoudinga, a village in western Burkina Faso.

The mosquitoes had been injected as embryos with an enzyme that sterilizes them.

Our objective is not to eradicate mosquitoes, said Diabate, noting the enzyme targets only the three main species out of more than 3,500 worldwide that carry malaria. The objective is to reduce the density of these mosquitoes.

Target Malaria is also developing an enzyme preventing male mosquitoes from passing on X chromosomes. This results in male offspring, reducing malaria since only female mosquitoes bite males mostly feed off plant honeydew.

Diabate said he hoped the new approaches would win approval from national regulators in the coming years for widespread use.

Using a gene drive proved effective in lab experiments at Imperial College London, where researchers last year said they had succeeded in wiping out populations of caged mosquitoes within 11 generations.

Activists in Burkina fear unintended environmental consequences.

They point to Burkinas experiment with genetically-modified cotton a few years ago, which farmers said had lowered quality and was ultimately abandoned in favor of conventional seeds.

We are not going to allow Burkinabes to be used as guinea pigs, said Ali Tapsoba, a Burkinabe activist.

If we intoxicate one link in the food chain, we are going to intoxicate the next link.

READ MORE: Mosquitoes are on the move due to climate change, and they could bring diseases

Those concerns echo beyond Burkina. Last November, signatories of a United Nations convention on biodiversity noted uncertainties regarding engineered gene drives.

Critics of gene drives fear they could be used to manipulate human genetics, or develop a bio-weapon.

Researchers in Brazil have also released genetically modified mosquitoes in an attempt to control diseases like yellow fever and Zika, but it is not clear how effective that has been.

Target Malaria says it consults with communities and that research is overseen by national regulatory authorities and an independent ethics committee.

READ MORE: Scientists could soon fight malaria with mosquito birth control

Two months after the mosquitoes were released, Souroukoudinga chief Pascal Traore told Reuters villagers were happy with the experiments progress.

We all believe that the project could reduce the malaria that kills our sons and daughters, he said. This project is not just for us, but for the entire world.

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Scientists release genetically altered mosquitoes to fight malaria - Global News

In this report, the Global Human Genetics market is valued at USD XX million in 2017 and is expected to reach USD XX million by the end of 2025, growing at a CAGR of XX% between 2017 and 2025. Global Human Genetics market has been broken down by major regions, with complete market estimates on the basis of products/applications on a regional basis.

Browse full research report at https://www.crystalmarketreport.com/global-human-genetics-market-report-history-and-forecast-2014-2025-breakdown-data-by-companies-key-regions-types-and-application

Summary

Human geneticsis the study of inheritance as it occurs inhuman beings. Genes can be the common factor of the qualities of most human-inherited traits.

In 2018, the global Human Genetics market size was xx million US$ and it is expected to reach xx million US$ by the end of 2025, with a CAGR of xx% between 2019 and 2025.

This report studies the Human Genetics market size by players, regions, product types and end industries, history data 2014-2018 and forecast data 2019-2025; This report also studies the global market competition landscape, market drivers and trends, opportunities and challenges, risks and entry barriers, sales channels, distributors and Porters Five Forces Analysis.

This report focuses on the global top players, covered

QIAGEN

Agilent Technologies

Thermo Fisher Scientific

Illumina

Promega

LabCorp

GE

Market segment by Regions/Countries, this report covers

North America

Europe

China

Rest of Asia Pacific

Central & South America

Middle East & Africa

Market segment by Type, the product can be split into

Cytogenetics

Prenatal Genetics

Molecular Genetics

Symptom Genetics

Market segment by Application, the market can be split into

Research Center

Hospital

Forensic Laboratories

The study objectives of this report are:

To study and forecast the market size of Human Genetics in global market.

To analyze the global key players, SWOT analysis, value and global market share for top players.

To define, describe and forecast the market by type, end use and region.

To analyze and compare the market status and forecast among global major regions.

To analyze the global key regions market potential and advantage, opportunity and challenge, restraints and risks.

To identify significant trends and factors driving or inhibiting the market growth.

To analyze the opportunities in the market for stakeholders by identifying the high growth segments.

To strategically analyze each submarket with respect to individual growth trend and their contribution to the market

To analyze competitive developments such as expansions, agreements, new product launches, and acquisitions in the market.

To strategically profile the key players and comprehensively analyze their growth strategies.

In this study, the years considered to estimate the market size of Human Genetics are as follows:

History Year: 2014-2018

Base Year: 2018

Estimated Year: 2019

Forecast Year 2019 to 2025

For the data information by region, company, type and application, 2018 is considered as the base year. Whenever data information was unavailable for the base year, the prior year has been considered.

Key Stakeholders

Raw material suppliers

Distributors/traders/wholesalers/suppliers

Regulatory bodies, including government agencies and NGO

Commercial research & development (R&D) institutions

Importers and exporters

Government organizations, research organizations, and consulting firms

Trade associations and industry bodies

End-use industries

Available Customizations

With the given market data, QYResearch offers customizations according to the companys specific needs. The following customization options are available for the report:

Further breakdown of Human Genetics market on basis of the key contributing countries.

Detailed analysis and profiling of additional market players.

Browse full research report at https://www.crystalmarketreport.com/global-human-genetics-market-report-history-and-forecast-2014-2025-breakdown-data-by-companies-key-regions-types-and-application

Reasons to Buy This Research Report

About Crystal Market Reports

Crystal Market Reports is a distributor of market research spanning 160 industries. Our extensive database consists of over 400,000 quality publications sourced from 400 plus publishers, this puts our research specialists in the unique position of been able to offer truly unbiased advice on what research provides the most valuable insights.

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Global Human Genetics Market Report, History and Forecast 2014-2025, Breakdown Data by Companies, Key Regions, Types and Application - Market Industry...

Steve Horvath, a geneticist who was able to reverse nine peoples biological clock recently, spoke to Down To Earth about the study

A group of scientists in the US have, for the first time, been able to reverse the biological clock of nine volunteers by 2.5 years by just administering a cocktail of drugs for a year.

The lead scientist Steve Horvath is a professor of human genetics and biostatistics in the David Geffen School of Medicine at University of California, Los Angeles (UCLA) and Fielding School of Public Health. In an interview, hetoldDown To Earth about the studyits findings and the likely ramifications of the breakthrough. Excerpts:

What prompted the study and is it the first one to suggest that the biological clock of humans can be reversed?

My collaborator Greg Fahy aimed to develop a treatment for rejuvenating the thymus (a ductless glandular organ at the base of the neck that produces lymphocytes and aids in producing immunity. It atrophies with age). After the study, he contacted me to test whether this treatment can also reverse the epigenetic age of blood samples.

I invented several epigenetic clocks for measuring the age of blood and other tissues. I have evaluated many other treatments with the epigenetic clock method. None of the other treatments had an effect. Greg Fahy's cocktail was the first to reverse epigenetic age.

What can be the ramifications of the study?

We have only accomplished the first step. It is a very important step but more work is needed. We need to repeat the study using a larger group of people. If these results are true, they will have profound effects on public health.

A rejuvenation treatment promises to delay the onset of most chronic diseases including heart disease and cancer. Also, a rejuvenated thymus promises to rejuvenate the immune system which means that our body could avoid autoimmune diseases and dangerous infectious diseases.

Many older people die of pneumonia because their immune system does not work well anymore.

What do you plan to do next?

We plan to conduct a larger replication study that involves about 100 people, which will consist of both men and women. We need to carefully evaluate this treatment.

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'Rejuvenation treatment can delay onset of heart diseases, cancer' - Down To Earth Magazine