Category Archives: Human Genetics

National Institutes of Health Director Francis Collins speaks at the 2019 BioLogos Conference in Baltimore, Maryland on March 27, 2019. | THE CHRISTIAN POST

There is always a dilemma for Christians in best handling and reacting to the positions and counsel of Christian leaders. Often these are people we have grown to trust and respect as followers of Christ.

Their convictions at times are consistent with Christian principles and biblical wisdom. They champion appropriate positions and defend causes from a historically Christian perspective. They gain traction and respect even among cultural, political, and religious opponents because of the internally consistent strength of their arguments and their winsome and gracious demeanor.

And yet, it is impossible for any fallen and sinful person to be right all the time. Similarly, it is quite possible and regularly demonstrated that the unregenerate are not always wrong.

As a case in point, contrast Dr. Francis Collins and President Donald Trump.

Trump, not convincingly a born-again Christian, became president in large measure because he promised to represent conservative Christians and their concerns. His appointing of originalist judges to federal courts and the U.S. Supreme Court, as well as his attendance at events like the annual March for Life while he was in office (this was unprecedented for a president), were encouragements to many Christians. Yet his demeanor was consistently characterized as non-Christian. Such may well have cost him re-election. Christians and conservative political analysts will debate for decades whether he was a net positive or negative influence on America. Clearly, both cases can be made. Different Christian voices have weighed in on the matter. Many Christians, even conservatives, felt that Trump used them for his personal gain and prestige.

In certain notable ways, a case could be made that the Francis Collins situation at times echoes the debate over Donald Trump among Christians.

Dr. Francis Collins, the famous geneticist, was and is vocally Christian. He has clearly identified as such, and he has taken heat for it. For example, in the summer of 2009, after his nomination as director of NIH by President Barack Obama, outspoken atheist Sam Harris attacked Collins in theNew York Timesas unfit for the job because of his religious convictions.

Collins became known to many Americans during his direction of the Human Genome Project through the 1990s. In February 1998,Scientific Americanprofiled Dr. Collins with the headline Where Science and Religion meet: The U.S. head of the Human Genome Project, Francis S. Collins, stives to keep his Christianity from interfering with his science and politics. That article quoted Dr. Collins saying he is intensely uncomfortable with abortion. He said that he does not advocate changing the law and is very careful to ensure his personal feelings on abortion do not affect his political stance.

The article went on to say: researchers and academics familiar with Collins work agree that he has separated his private religious views from his professional life. He shows no influence of religious beliefs on his work other than a generalized sensitivity to ethics issues in genetics.

In essence, what these people were saying is that Francis Collins is such a good scientist because you can hardly tell he is a Christian from his work.

As a much younger biology professor at the time, I was aghast at this. A Christian has separated his religious views from his professional life. Why is that a good thing?

I emailed Dr. Collins at the time, asking him ifScientific Americanhad it right. Maybe the article misunderstood Collins? My email was never answered. Not that I expected that it would be, given my obscurity and his standing and responsibilities. Still, the article troubled me, as I was always left with the lingering question.

Dr. Collins went on to launch the BioLogos Foundation, a Christian/science interface organization that advocates for the reconciliation of modern science and Christianity. The idea is that nature and Scripture are both from God and ultimately are not in conflict. This reflects Dr. Collins Christian convictions and his love of science, the study of Gods physical world. Give Dr. Collins credit for leveraging his popularity, leadership qualities, and obvious pastoral instincts for the noble cause.

Ultimately, I met Dr. Collins several years ago at a conference and heard him speak. There is no reason he would remember our quick contact in an elevator any more than he would remember my email. However, one cannot help but be impressed by his genuine humility and his concern for the spiritual health of the people around him. He has made it clear that he believes that Jesus Christ is incarnate and divine and that humans are made in the image of God (although he rejects the historic Adam), and that salvation is real.

Yet, inconsistencies remain. Dr. Collins seems to allow his science to inordinately arbitrate over biblical truth, or at least when the two are portrayed as in conflict. As his professional life has unfolded, it has become clear that theScientific Americanarticle had gotten a lot right. It is fair to say that he has remained uncertain about when human life begins. He concedes that the fertilized egg is alive at conception, but believes that maybe it is not quite human. Consequently, in his 2010 book,The Language of Life,he advocated for experimentation using excess human embryos fromin vitro fertilization(IVF) that are stuck in cryo-storage with uncertain futures, so that some good could come from them. He has never publicly disavowed human embryonic research because he sees its potential fruitfulness. In fact, as late as last summer, experiments involving human embryonic cells and mice was supported by NIH funding at the University of Pittsburgh.

There are ongoing ramifications of Dr. Collins acceptance of abortion as the law of the land. TheScientific Americanarticle in 1998 mentioned that Dr. Collins was concerned that embryonic genetic testing might lead to abortions of fetuses that have conditions that are less than disastrous. The article did not suggest what he would consider less than disastrous. For instance, would my great-nephews Downs syndrome condition be considered less than a disaster?

Princeton bioethicist and legal scholar, Dr. Robert George, made a clearer case in his 1998 address to the American Political Science Association Convention, stating, once I was a child, once I was an infant, once I was an embryo, I cannot say I was once an egg or a sperm. However, it is clear that the viable sperm and egg are quite alive. Also, it is good to remember what we say in the Apostles Creed. He was conceived born suffered died and rose again.

What human is not on that trajectory of life and death? The Bible teaches that we all are.

This leaves many conservative Christians convinced that Dr. Collins would rather come down on the side of a quote from his old boss, President Barack Obama. In March 2009, Obama signed an executive order that lifted President George W. Bushs 2001 ban on federal funding of human embryonic research. Today we will lift the ban on federal funding for promising embryonic stem cell research, stated Obama. We will vigorously support scientists who pursue this research. And we will aim for America to lead the world in the discoveries it one day may yield. Obama continued, Promoting science isnt just about providing resources it is also about protecting free and open inquiry. It is about letting scientists like those here today do their jobs, free from manipulation or coercion, and that we make scientific decisions based on facts, not ideology.

Obama insisted that Im going to let scientists do science. Im going to remove politics, religion, and ideology from that.

Of course, the reality is that such a thing cannot be done. The presidents own politics and ideology were clearly stated and inserted.

One would hope that Dr. Collins would be more comfortable with the principles articulated in President George W. Bushs 2006 State of the Union Address. A hopeful society has institutions of science and medicine that do not cut ethical corners, and that recognize the matchless value of every life, stated Bush. Tonight, I ask you to pass legislation to prohibit the most egregious abuses of medical research human cloning in all its forms creating or implanting embryos for experiments creating human-animal hybrids and buying, selling, or patenting human embryos. Human life is a gift from our Creatorand that gift should never be discarded, devalued, or put up for sale.

These are all ethical issues that have confronted Dr. Francis Collins as a man of science and of faith. The issues more recently included COVID mask and vaccine mandates. To many in the evangelical community, the pro-life appeals he made for the mandates have rung increasingly hollow, and his seeming inconsistencies have been bothersome.

Os Guinness, in his book,The Magna Carta of Humanity, brings out a principle that every intentional Christian should keep in mind: The notion of arguing on behalf of the true, the right, and the good lies behind the biblical principle of corrigibility. Guinness quotes Jewish Hebrew scholar Jonathan Sacks, We are all open to challenge. No one is above criticism, no one is too junior to administer it, if done with due grace and humility.

This requires knowing scripture and applying its logical conclusions, consistently. Otherwise, our ability to be salt and light is diminished, and we can be played. Francis Collins needs to add salt and light. Many of us have admired him, and we expect more from him in his Christian witness to science.

Dr. Jan Dudt is a professor of biology at Grove City College and fellow for medical ethics with the Institute for Faith & Freedom. He teaches as part of colleges required core course Studies in Science, Faith and Technology wherein students, among other things, study all the major origins theories and are asked to measure them in the light of biblical authority.

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Christian leaders and controversies: The case of Francis Collins - The Christian Post

ST. JOHN'S, N.L. Some looked tired, but there were smiles on the faces of Ukrainian refugees who made their way through the arrivals area of St. Johns International Airport Monday night, May 9.

Smiles have been hard to come by for Ukrainians fleeing their country under the danger of Russian bombs and ground assaults.

Many of their homes and communities have been left in rubble since the war began on Feb. 24.

One hundred and sixty-six Ukrainian refugees arrived on a charter flight from Poland and were welcomed by Premier Andrew Furey, Immigration Minister Gerry Byrne, the Association for New Canadians, the Canadian Red Cross and many others.

A number of residents arrived at the airport to show support, clapping and shouting welcome as the newcomers passed through the crowd.

Sofiia Shapoval was patiently waiting for her mother, Natalia, and little sister, Zoriana, 9, to arrive. When Zoriana saw Sofiia through the crowd she began jumping excitedly and waving her hand.

Sofiia came to Memorial University last September to study human genetics. After Russia invaded Ukraine in February, she began trying to get her mother and sister to the province.

I was at the other side of the world and wondered how could I help them, Sofiia said. But now they are here and Im so glad to see them.

I was at the other side of the world and wondered how could I help them. But now they are here and Im so glad to see them. Sofiia Shapoval

Stan, a 28-year-old mining engineer, will go to a mining job in central Newfoundland. He said he was in Europe when the war broke out and was going to return to fight, but his father, an officer in the Ukrainian army, told him not to.

He said, As I am in this war, you go and have your chance for your future, Stan said. I am very thankful for my father, and Im worried about him.

After clearing customs and speaking with the premier and others at the airport's arrival area, the Ukrainians were transported to their awaiting accommodations.

Megan Morris, executive director of the Association for New Canadians, said they will work with the newcomers to help them find housing, place their children in school, teach them English and match them with available jobs.

Its a pretty amazing time and you can tell by all the folks around us that theres so many people contributing to this effort, Morris said. Our organization is a resettlement agency, so this is the stuff we do all the time, and our folks are preparing to do the work they normally do to support this effort.

Rosanna Compagnon showed up at the airport toting a welcome sign and an eagerness to let the Ukrainians know they are cared about.

Ive been thinking of all the terrible things happening in Ukraine, and I thought Id come out and show my love and support for them, and see if theres anything I can do to cheer them up, Compagnon said. I thought even my little bit would help.

Russia launched what it termed a "special military operation" on Feb. 24 at targets across Ukraine not just the disputed eastern regions most suspected Russia would focus on and in the more than two months since have killed many civilians, and levelled communities and homes. Despite strong resistance and resilience by the Ukrainian army, the death, destruction and chaos has been devastating on the Ukrainian people.

As atrocities of war are inflicted on Ukraine by Russia, the people of this province are standing up and standing tall, Furey said in the House of Assembly earlier on Monday. We stand with Ukraine.

The world has been reminded of what is the true face of courage and resolve in Ukrainian President Volodymyr Zelenskyy. As his nation fights for freedom, we will do all we can to support and ease the burdens of Ukrainian families.

After the war began, the enormous humanitarian crisis developed quickly as people fled cities and towns pounded by bombs and invading forces. Furey said the province stepped up immediately with a made-in-Newfoundland and Labrador response.

The government announced on March 17 it had expanded its Ukrainian Family Support Desk initiative to Poland to undertake direct outreach to people who had fled Ukraine and who may be looking for information about coming to Newfoundland and Labrador.

To our knowledge, we are the first state actor in North America to organize a humanitarian airlift of Ukrainians to our shores, Furey said. Our understanding and our place on the world stage is reflected in this deliberate act.

All arriving Ukrainians have been granted the Canada-Ukraine Authorization for Emergency Travel Visa that legally allows them to live and work in Canada for up to three years.Ukrainians arriving in Newfoundland and Labrador under the emergency travel visa will also receive provincialMedical Care Plan and Prescription Drug Plan coverage.

With Monday evenings arrival of Ukrainian refugees and the hopes that more will arrive in the weeks to come, the provincial government is reminding residents how they can help welcome and support the newcomers.

Residents can help by: identifying job opportunities for Ukrainians and sending those positions to[emailprotected]; sending offers of accommodation and donations of goods and/or services to the Association for New Canadians (ANC) Ukraine support team at[emailprotected]or 709-325-0881; and donating to ANC's new Canadiansemergency fund.

The ANC is also recruiting volunteers to participate as: interpreters (Ukrainian and other languages); family match program participants (volunteers are matched with newcomers to help with English as a second language learning through friendship; activities could include exploring the city, sightseeing, going for walks and sharing meals together); and conversation circle partners (newcomers are given the opportunity to start practising conversational English). Those interested in volunteering are asked to register for orientation by emailing[emailprotected].

The ANC is searching for a donations centre to house physical donations, such as furniture and clothing. Residents are asked to hold onto donations until a space is found.

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Seeking safe haven from war in Ukraine: Ukrainian refugees happy to find peace and friendship in Newfoundland and Labrador - Saltwire

Learning Objectives

By the end of this section, you will be able to:

Psychological researchers study genetics in order to better understand the biological basis that contributes to certain behaviors. While all humans share certain biological mechanisms, we are each unique. And while our bodies have many of the same partsbrains and hormones and cells with genetic codesthese are expressed in a wide variety of behaviors, thoughts, and reactions.

Why do two people infected by the same disease have different outcomes: one surviving and one succumbing to the ailment? How are genetic diseases passed through family lines? Are there genetic components to psychological disorders, such as depression or schizophrenia? To what extent might there be a psychological basis to health conditions such as childhood obesity?

To explore these questions, lets start by focusing on a specific disease,sickle-cell anemia, and how it might affect two infected sisters. Sickle-cell anemia is a genetic condition in which red blood cells, which are normally round, take on a crescent-like shape. The changed shape of these cells affects how they function: sickle-shaped cells can clog blood vessels and block blood flow, leading to high fever, severe pain, swelling, and tissue damage.

Many people with sickle-cell anemiaand the particular genetic mutation that causes itdie at an early age. While the notion of survival of the fittest may suggest that people suffering from this disease have a low survival rate and therefore the disease will become less common, this is not the case. Despite the negative evolutionary effects associated with this genetic mutation, the sickle-cell gene remains relatively common among people of African descent. Why is this? The explanation is illustrated with the following scenario.

Imagine two young womenLuwi and Senasisters in rural Zambia, Africa. Luwi carries the gene for sickle-cell anemia; Sena does not carry the gene. Sickle-cell carriers have one copy of the sickle-cell gene but do not have full-blown sickle-cell anemia. They experience symptoms only if they are severely dehydrated or are deprived of oxygen (as in mountain climbing). Carriers are thought to be immune from malaria (an often deadly disease that is widespread in tropical climates) because changes in their blood chemistry and immune functioning prevent the malaria parasite from having its effects (Gong, Parikh, Rosenthal, & Greenhouse, 2013). However, full-blown sickle-cell anemia, with two copies of the sickle-cell gene, does not provide immunity to malaria.

While walking home from school, both sisters are bitten by mosquitos carrying the malaria parasite. Luwi does not get malaria because she carries the sickle-cell mutation. Sena, on the other hand, develops malaria and dies just two weeks later. Luwi survives and eventually has children, to whom she may pass on the sickle-cell mutation.

Visit thiswebsiteto learn more about how a mutation in DNA leads to sickle-cell anemia.

Malaria is rare in the United States, so the sickle-cell gene benefits nobody: the gene manifests primarily in health problemsminor in carriers, severe in the full-blown diseasewith no health benefits for carriers. However, the situation is quite different in other parts of the world. In parts of Africa where malaria is prevalent, having the sickle-cell mutation does provide health benefits for carriers (protection from malaria).

This is precisely the situation that CharlesDarwindescribes in thetheory of evolution by natural selection. In simple terms, the theory states that organisms that are better suited for their environment will survive and reproduce, while those that are poorly suited for their environment will die off. In our example, we can see that as a carrier, Luwis mutation is highly adaptive in her African homeland; however, if she resided in the United States (where malaria is much less common), her mutation could prove costlywith a high probability of the disease in her descendants and minor health problems of her own.

Its easy to get confused about two fields that study the interaction of genes and the environment, such as the fields ofevolutionary psychologyandbehavioral genetics. How can we tell them apart?

In both fields, it is understood that genes not only code for particular traits, but also contribute to certain patterns of cognition and behavior. Evolutionary psychology focuses on how universal patterns of behavior and cognitive processes have evolved over time. Therefore, variations in cognition and behavior would make individuals more or less successful in reproducing and passing those genes to their offspring. Evolutionary psychologists study a variety of psychological phenomena that may have evolved as adaptations, including fear response, food preferences, mate selection, and cooperative behaviors (Confer et al., 2010).

Whereas evolutionary psychologists focus on universal patterns that evolved over millions of years, behavioral geneticists study how individual differences arise, in the present, through the interaction of genes and the environment. When studying human behavior, behavioral geneticists often employ twin and adoption studies to research questions of interest. Twin studies compare the rates that a given behavioral trait is shared among identical and fraternal twins; adoption studies compare those rates among biologically related relatives and adopted relatives. Both approaches provide some insight into the relative importance of genes and environment for the expression of a given trait.

Watch this interview with renownedevolutionary psychologistDavid Buss for an explanation of how a psychologist approaches evolution and how this approach fits within the field of social science.

Genetic variation, the genetic difference between individuals, is what contributes to a species adaptation to its environment. In humans, genetic variation begins with an egg, about 100 million sperm, and fertilization. Fertile women ovulate roughly once per month, releasing an egg from follicles in the ovary. During the eggs journey from the ovary through the fallopian tubes, to the uterus, a sperm may fertilize an egg.

The egg and the sperm each contain 23 chromosomes.Chromosomesare long strings of genetic material known asdeoxyribonucleic acid (DNA). DNA is a helix-shaped molecule made up of nucleotide base pairs. In each chromosome, sequences of DNA make upgenesthat control or partially control a number of visible characteristics, known as traits, such as eye color, hair color, and so on. A single gene may have multiple possible variations, or alleles. Analleleis a specific version of a gene. So, a given gene may code for the trait of hair color, and the different alleles of that gene affect which hair color an individual has.

When a sperm and egg fuse, their 23 chromosomes pair up and create a zygote with 23 pairs of chromosomes. Therefore, each parent contributes half the genetic information carried by the offspring; the resulting physical characteristics of the offspring (called the phenotype) are determined by the interaction of genetic material supplied by the parents (called the genotype). A personsgenotypeis the genetic makeup of that individual.Phenotype, on the other hand, refers to the individuals inherited physical characteristics, which are a combination of genetic and environmental influences.

Most traits are controlled by multiple genes, but some traits are controlled by one gene. A characteristic likecleft chin, for example, is influenced by a single gene from each parent. In this example, we will call the gene for cleft chin B, and the gene for smooth chin b. Cleft chin is a dominant trait, which means that having thedominant alleleeither from one parent (Bb) or both parents (BB) will always result in the phenotype associated with the dominant allele. When someone has two copies of the same allele, they are said to behomozygousfor that allele. When someone has a combination of alleles for a given gene, they are said to beheterozygous. For example, smooth chin is a recessive trait, which means that an individual will only display the smooth chin phenotype if they are homozygous for thatrecessive allele(bb).

Imagine that a woman with a cleft chin mates with a man with a smooth chin. What type of chin will their child have? The answer to that depends on which alleles each parent carries. If the woman is homozygous for cleft chin (BB), her offspring will always have cleft chin. It gets a little more complicated, however, if the mother is heterozygous for this gene (Bb). Since the father has a smooth chintherefore homozygous for the recessive allele (bb)we can expect the offspring to have a 50% chance of having a cleft chin and a 50% chance of having a smooth chin.

Sickle-cell anemia is just one of many genetic disorders caused by the pairing of two recessive genes. For example,phenylketonuria(PKU) is a condition in which individuals lack an enzyme that normally converts harmful amino acids into harmless byproducts. If someone with this condition goes untreated, he or she will experience significant deficits in cognitive function, seizures, and increased risk of various psychiatric disorders. Because PKU is a recessive trait, each parent must have at least one copy of the recessive allele in order to produce a child with the condition.

So far, we have discussed traits that involve just one gene, but few human characteristics are controlled by a single gene. Most traits arepolygenic: controlled by more than one gene. Height is one example of a polygenic trait, as are skin color and weight.

Where do harmful genes that contribute to diseases like PKU come from? Gene mutations provide one source of harmful genes. Amutationis a sudden, permanent change in a gene. While many mutations can be harmful or lethal, once in a while, a mutation benefits an individual by giving that person an advantage over those who do not have the mutation. Recall that the theory of evolution asserts that individuals best adapted to their particular environments are more likely to reproduce and pass on their genes to future generations. In order for this process to occur, there must be competitionmore technically, there must be variability in genes (and resultant traits) that allow for variation in adaptability to the environment. If a population consisted of identical individuals, then any dramatic changes in the environment would affect everyone in the same way, and there would be no variation in selection. In contrast, diversity in genes and associated traits allows some individuals to perform slightly better than others when faced with environmental change. This creates a distinct advantage for individuals best suited for their environments in terms of successful reproduction and genetic transmission.

Genes do not exist in a vacuum. Although we are all biological organisms, we also exist in an environment that is incredibly important in determining not only when and how our genes express themselves, but also in what combination. Each of us represents a unique interaction between our genetic makeup and our environment; range of reaction is one way to describe this interaction.Range of reactionasserts that our genes set the boundaries within which we can operate, and our environment interacts with the genes to determine where in that range we will fall. For example, if an individuals genetic makeup predisposes her to high levels of intellectual potential and she is reared in a rich, stimulating environment, then she will be more likely to achieve her full potential than if she were raised under conditions of significant deprivation. According to the concept of range of reaction, genes set definite limits on potential, and environment determines how much of that potential is achieved. Some disagree with this theory and argue that genes do not set a limit on a persons potential.

Another perspective on the interaction between genes and the environment is the concept ofgenetic environmental correlation. Stated simply, our genes influence our environment, and our environment influences the expression of our genes. Not only do our genes and environment interact, as in range of reaction, but they also influence one another bidirectionally. For example, the child of an NBA player would probably be exposed to basketball from an early age. Such exposure might allow the child to realize his or her full genetic, athletic potential. Thus, the parents genes, which the child shares, influence the childs environment, and that environment, in turn, is well suited to support the childs genetic potential.

In another approach to gene-environment interactions, the field ofepigeneticslooks beyond the genotype itself and studies how the same genotype can be expressed in different ways. In other words, researchers study how the same genotype can lead to very different phenotypes. As mentioned earlier, gene expression is often influenced by environmental context in ways that are not entirely obvious. For instance, identical twins share the same genetic information (identical twinsdevelop from a single fertilized egg that split, so the genetic material is exactly the same in each; in contrast,fraternal twinsdevelop from two different eggs fertilized by different sperm, so the genetic material varies as with non-twin siblings). But even with identical genes, there remains an incredible amount of variability in how gene expression can unfold over the course of each twins life. Sometimes, one twin will develop a disease and the other will not. In one example, Tiffany, an identical twin, died from cancer at age 7, but her twin, now 19 years old, has never had cancer. Although these individuals share an identical genotype, their phenotypes differ as a result of how that genetic information is expressed over time. The epigenetic perspective is very different from range of reaction, because here the genotype is not fixed and limited.

Visit thissitefor an engaging video primer on theepigeneticsof twin studies.

Genesaffect more than our physical characteristics. Indeed, scientists have found genetic linkages to a number of behavioral characteristics, ranging from basic personality traits to sexual orientation to spirituality (for examples, see Mustanski et al., 2005; Comings, Gonzales, Saucier, Johnson, & MacMurray, 2000). Genes are also associated with temperament and a number of psychological disorders, such as depression and schizophrenia. So while it is true that genes provide the biological blueprints for our cells, tissues, organs, and body, they also have significant impact on our experiences and our behaviors.

Lets look at the following findings regarding schizophrenia in light of our three views of gene-environment interactions. Which view do you think best explains this evidence?

In a study of people who were given up for adoption, adoptees whose biological mothers had schizophrenia(i.e. genetic risk present)andwho had been raised in a dysfunctional family, (i.e. environmental risk present), environment were much more likely to developschizophreniaor another psychotic disorder than were any of the other groups in the study:

The study shows that adoptees with high genetic risk were especially likely to develop schizophrenia only if they were raised in a dysfunctional home environments. This research lends credibility to the notion that both genetic vulnerability and environmental stress are necessary for schizophrenia to develop, and that genes alone do not tell the full tale.

Genes are sequences of DNA that code for a particular trait. Different versions of a gene are called allelessometimes alleles can be classified as dominant or recessive. A dominant allele always results in the dominant phenotype. In order to exhibit a recessive phenotype, an individual must be homozygous for the recessive allele. Genes affect both physical and psychological characteristics. Ultimately, how and when a gene is expressed, and what the outcome will bein terms of both physical and psychological characteristicsis a function of the interaction between our genes and our environments.

References:

Openstax Psychology text by Kathryn Dumper, William Jenkins, Arlene Lacombe, Marilyn Lovett and Marion Perlmutter licensed under CC BY v4.0.https://openstax.org/details/books/psychology

Review Questions:

1. A(n) ________ is a sudden, permanent change in a sequence of DNA.

a. allele

b. chromosome

c. epigenetic

d. mutation

2. ________ refers to a persons genetic makeup, while ________ refers to a persons physical characteristics.

a. Phenotype; genotype

b. Genotype; phenotype

c. DNA; gene

d. Gene; DNA

3. ________ is the field of study that focuses on genes and their expression.

a. Social psychology

b. Evolutionary psychology

c. Epigenetics

d. Behavioral neuroscience

4. Humans have ________ pairs of chromosomes.

a. 15

b. 23

c. 46

d. 78

Critical Thinking Questions:

1. The theory of evolution by natural selection requires variability of a given trait. Why is variability necessary and where does it come from?

Personal Application Questions:

1. You share half of your genetic makeup with each of your parents, but you are no doubt very different from both of them. Spend a few minutes jotting down the similarities and differences between you and your parents. How do you think your unique environment and experiences have contributed to some of the differences you see?

Glossary:

allele

chromosome

deoxyribonucleic acid (DNA)

dominant allele

epigenetics

fraternal twins

gene

genetic environmental correlation

genotype

heterozygous

homozygous

identical twins

mutation

phenotype

polygenic

range of reaction

recessive allele

Read the original here:
3.1 Human Genetics Introductory Psychology

Eleven UCLA faculty members were elected today to the American Academy of Arts and Sciences, one of the nations most prestigious honorary societies. A total of 261 artists, scholars, scientists and leaders in the public, nonprofit and private sectors were elected, including honorary members from 16 countries.

UCLA had the second most honorees among colleges and universities, preceded only by Harvard. Stanford was third, UC Berkeley fourth, and MIT and Yale tied for fifth.

In February,UCLA was No. 1 in the number ofprofessors selected for2022 Sloan Research Fellowships, an honor widely seen as evidence of the quality of an institutions science, math and economics faculty.

UCLAs 2022 American Academy of Arts and Sciences honorees are:

John AgnewDistinguished professor of geographyAgnews research focuses on political geography, international political economy, European urbanization and modern Italy. Among his many awards is the2019Vautrin Lud Prize, one of the highest honors in the field of geography. In 2017, Agnew was selected to deliver UCLAs Faculty Research Lecture.

Walter AllenDistinguished professor ofeducation, sociology and African American studiesAllen, UCLAs Allan Murray Cartter Professor of Higher Education, is the director of UCLAs Capacity Building Center and the UCLA Choices Project.His expertise includesthe comparative study of race, ethnicity and inequality; diversity in higher education; family studies; and thestatus of Black males in American society.

Patricia GandaraResearch professor of educationGandara is co-director of the Civil Rights Project/Proyecto Derechos Civiles at UCLA and chair of the working group on education for the UCMexico Initiative. Her publications include the 2021 books Schools Under Siege:Immigration Enforcement and Educational Equity and The Students We Share: Preparing U.S. and Mexican Teachers for Our Transnational Future.

Wilfrid Gangbo Professor of mathematicsGangbos expertise includes the calculus of variations, nonlinear analysis, partial differential equations and fluid mechanics. He is the founder of EcoAfrica, an association of scientists involved in projects in support of African countries, and is one of the UC and Stanford University faculty members who launched the David Harold Blackwell Summer Research Institute.

Haruzo HidaDistinguished research professor of mathematicsHida is an expert onnumber theory and modular forms. A highly honored mathematician, he has spoken about his research at numerous international conferences and was the recipient of a Guggenheim Fellowship in 1991 and the Leroy P. Steele Prize for Seminal Contribution to Research from the American Mathematical Society in 2019.

Leonid KruglyakDistinguished professor of human genetics and biological chemistryDavid Geffen School of Medicine at UCLAKruglyak is UCLAs Diller-von Furstenberg Professor of Human Genetics, chair of the department of human genetics and a Howard Hughes Medical Institute investigator. He studies the complex genetic basis of heritable traits, which involves many genes that interact with one another and the environment, and his laboratory conducts experiments using computational analysis and model organisms.He has been the recipient ofmany awards, includingthe Burroughs Wellcome Fund Innovation Award in Functional Genomics, the Curt Stern Award from the American Society of Human Geneticsand the Edward Novitski Prize from the Genetics Society of America.

Peter NarinsDistinguished research professor of integrative biology and physiology, and ofecology and evolutionary biologyNarins research focuses on how animals extract relevant sounds from the often noisy environments in which they live. His numerous honors and awards include a Guggenheim Fellowship, theAcoustical Society of Americas2021 silver medal in animal bioacoustics and election to four scientific societies: the Acoustical Society of America, the Animal Behavior Society, the American Association for the Advancement of Science and the International Society for Neuroethology.

Bradley ShafferDistinguished professor of ecology and evolutionarybiologyShaffer, the director of theUCLA La Kretz CenterforCalifornia ConservationScience, is an expert onevolutionary biology, ecology and the conservation biology of amphibians and reptiles. His recent work has focused on conservation genomics of endangered and ecologically important plants and animals of California, global conservation of freshwater turtles and tortoises, and the application of genomics to the protection of endangered California amphibians and reptiles.

Blaire Van ValkenburghDistinguished research professor emeritus of ecology and evolutionary biologyVan Valkenburgh, UCLAs Donald R. Dickey Professor of Vertebrate Biology, focuses on the biology and paleontology of carnivorous mammals such as hyenas, wolves, lions and sabertooth cats. She is a leading expert on the evolutionary biology of large carnivores, past and present, and analyzes the fossil record of carnivores from both ecological and evolutionary perspectives.

George VargheseProfessor of computer scienceUCLA Samueli School of EngineeringVarghese, UCLAs Jonathan B. Postel Professor of Networking,devotedthefirst part of his career tomaking the internet fastera field he calls network algorithmics for which he was elected to theNational Academy of Engineeringin 2017, theNational Academy of Inventorsin 2020 and theInternet Hall of Fame in 2021. He is now working to jump-start an area he calls network design automation to provide a set of tools for operating and debugging networks.

Min ZhouDistinguished professor of sociology and Asian American studiesZhou, UCLAs Walter and Shirley Wang Professor of U.S.China Relations and Communications, is director of UCLAs Asia Pacific Center.Her research interests include migration and development,Chinese diasporas,race and ethnicity, and urban sociology.

These individuals excel in ways that excite us and inspire us at a time when recognizing excellence, commending expertise and working toward the common good is absolutely essential to realizing a better future, David Oxtoby, president of the American Academy of Arts and Sciences, said of this years honorees.

Membership is an honor, and also an opportunity toshape ideas and influence policy in areas as diverse as the arts, democracy, education, global affairs and science, said Nancy C. Andrews, chair of the academys board of directors.

The American Academy of Arts and Scienceswas founded in 1780 by John Adams, John Hancock and others who believed the new republic should honor exceptionally accomplished individuals. Previous fellows have included George Washington, Benjamin Franklin, Alexander Hamilton, Ralph Waldo Emerson, Albert Einstein, Charles Darwin, Winston Churchill, Martin Luther King Jr., Nelson Mandela and UCLA astrophysicistAndrea Ghez.

The academy also serves as an independent policy research center engaged in studies of complex and emerging problems. Its current membership represents some of todays most innovative thinkers across a variety of fields and professions and includes more than 250 Nobel and Pulitzer prize winners.

Read more:
11 UCLA faculty members elected to American Academy of Arts and Sciences | UCLA - UCLA Newsroom

Your brain may tell you that you need to run faster to become a better runner.

But your genetics may have a different idea.

A new study published in the journal Current Biology says our natural biology may program us to run at energy-efficient speeds to conserve calories.

That might be why its so difficult for long-distance runners to improve their times.

Researchers from Stanford University in California and Queens University in Ontario combined data from runners monitored in a lab, along with 37,000 runs recorded on wearable fitness trackers.

They found humans natural tendency is to run at a speed that conserves caloric loss, something that racers trying to improve times must overcome.

The scientists studied running mechanics for 15 years but hadnt studied real-world running until this research project.

We were able to fuse the two datasets to gain new insights and combine the more messy wearable data with the gold standard lab experiments to learn about how people run out in the world, said Jennifer Hicks, PhD, the studys co-author and the deputy director of Stanfords Wu Tsai Human Performance Alliance, in a statement.

The team was surprised to find the consistency they found across the combined datasets.

We intuitively assume that people run faster for shorter distances and then would slow their pace for longer distances, said Jessica Selinger, PhD, a study co-author and a neuromechanics researcher at Queens University, in a statement.

That turned out not to be the case.

Most of the runners analyzed ran at the same speed, whether it was a short run or a long run over 10 kilometers.

The authors reported that from an evolutionary perspective, it makes sense that humans would run at the speed using the least amount of energy. Its a trait that has also been observed in animals.

However, humans now have different reasons for running. When the goal is speed, humans have to find different ways to get around their natural tendency to conserve energy.

We can train the body to become more efficient even when running at faster speeds, Todd Buckingham, Ph.D., the chief exercise physiologist at The Bucking Fit Life in Atlanta, told Healthline. A lot of this has to do with the neuromuscular adaptations that occur within the body.

Imagine there are 100 muscle fibers that are firing in your legs while youre running, he explained. Of those 100 muscle fibers, only 50 actually need to be firing in order to move your body forward at the speed youre running. This is because the body has not established the most efficient neuromuscular pathways. Instead of firing only the muscles that are required, it overcompensates because these efficient pathways have not been established.

Its like doing a maze, he added. The first time you do the maze, youre going to take a lot of wrong turns and end up doing extra work. However, after several repeated attempts of the same maze, you become faster and more efficient, only taking the route that leads you to the exit the fastest. The connection between our nerves and muscles responds in much the same way. So, the more you run, the more efficient you become because youre teaching the body which fibers should be firing and which shouldnt.

Each person has different muscular abilities translating to how they perform, said Dr. Theodore Strange, the chair of medicine at Staten Island University in New York.

How they perform beyond that can depend on how they take care of themselves.

Based on body size, muscle mass, weight, etc., each runner has an energy efficiency range, Strange told Healthline. Runners can improve their times with good nutrition, knowing and maintaining a good weight that one is comfortable with, stretching before and after exercising, better than adequate hydration, resting appropriately, and setting goals for both time and distance.

Strange said runners having enough water in their body is paramount.

Drinking a lot of electrolyte replacement drinks with high sugar is not recommended as routine. These drinks should be used to replace fluids after active running with a lot of sweating, Strange said.

Running faster requires practicing and monitoring time based on distance and speed, he said. This is most easy to do on a track and increasing speed weekly for interval distances will improve time. Interval speed training and increasing the interval time helps.

Running at a comfortable weight for each individual is important, but weight loss, when appropriate, can help improve running time.

Experts also advise people not to set unrealistic expectations and to be patient with weekly increases in speed and distance. They can then get comfortable with certain distances and time, especially for beginners.

An example would be to start at 5 (kilometer) run and get to a level of speed that is comfortable, said Strange. Run a few races as the competitive atmosphere and adrenaline help also. Finally, always stretch those muscles out and keep limber especially post running. This helps prevent injuries like sprains and strains.

The studys authors said their research also produced a few tips to share.

Listening to music with a faster pace has been shown to help speed up stride frequency, which can then increase running speed, Selinger said. Picking faster running buddies can give you a boost.

Fitness data from wearables can also provide insight.

You can look at connections with the built environment and access to recreation resources and start to layer all of that data to really understand how to improve physical activity and health more broadly, said Hicks.

See the article here:
Genetics: Why It's Hard to Increase Running Speed - Healthline

Holly Tabor

Associate professor, Stanford University

For many people with a genetic condition, uncovering the gene responsible opens the door to accurate diagnosis and better treatment. But thats not yet the case for most autistic people despite decades of research that has implicated hundreds of genes.

The disconnect raises ethical questions about the goals and practice of autism genetics research, says Holly Tabor, associate professor of medicine at Stanford University in California and associate director for the schools Center for Biomedical Ethics.

Most autism genetics studies tout the possibility of more personalized treatments following a genetic diagnosis, but with such treatments not yet a reality, scientists need to reconsider their stated goals, Tabor says. Not getting it right can have big consequences. In October, for example, researchers had to pause recruitment for the U.K. genetics study Spectrum 10K after some autistic advocates questioned that studys aims.

That doesnt mean we stop doing the research or the research is inherently bad, says Tabor, whose son is autistic. Its more about, how can we do it better? How do we not have another 20 years of research that doesnt significantly impact the lives of people with autism?

Tabor spoke with Spectrum about autism researchers social responsibilities, the ableism that, in her opinion, permeates the genetics field, and the need for that community to reflect on its future.

This interview has been edited for length and clarity.

Spectrum: What issues do you see in autism genetics research?

Holly Tabor: I have been really disheartened and disappointed at the lack of tangible outcomes that have come from a tremendous amount of excellent genomic research over the past 20 years. I dont think that thats anybodys fault. That was the right thing to do, and it continues to be a good research thing to do. But we have to be honest about the real outcomes and the ways in which we havent actually succeeded as we hoped. Transparency is important if we want to continue doing this research.

In research on other genetic conditions, such as cystic fibrosis or sickle cell disease, the people doing genetic research overlap with people involved in clinical care and diagnosis. In autism, historically theres been more of a divide. That leads to a gap in the agenda for the research. That is really an opportunity to be filled, and an opportunity for funding agencies to target. It doesnt mean we shouldnt do genetic research, but we should make it more integrated with the community and with the needs of the community.

I like the Maya Angelou quote: When you know better, do better. We know better, and we can do better.

S: How can geneticists better integrate the autistic community in their work?

HT: One way is by building on some of the models from PCORI [Patient-Centered Outcomes Research Institute] and other kinds of community-based participatory research to involve adults with autism to set the agenda, design the research and think about the translation of the research. Theres a science of how to do this properly. There are some protocols that have been empirically tested about how to engage communities properly. That would really help with challenges such as what happened with Spectrum10K.

Theres also a real opportunity to think about other ways that genetics and genomics research can be implemented into clinical care and diagnosis. If we found more genetic loci that predispose people to autism, what would we do with that information? Part of the dream for many researchers is to be able to say, People with this genetic susceptibility gene are more likely to respond to this kind of therapy, or to have challenges with speech and communication.

We need to think bigger than that. We have these cohorts with some clinical data and a lot of genetic data. What other kinds of questions can we study about the natural history of autism, about the lived experiences of people with autism, about different kinds of interventions? How can we involve the communities in that research to be dynamic partnerships? Whats the sustainability? How are we going to build on the data collections?

S: Ive heard you say that autism genetics researchers have a responsibility to be leaders in ethical genetics research, given how big the datasets are. What does that responsibility look like?

HT: The scientific, social, anthropological structure on which most science is based emphasizes people being experts in one particular discipline. And there arent a lot of incentives to have people think about their social responsibility. What are the injustices that still exist for people with the condition or people in the specific population that Im studying? How can I involve people in my work to become more aware of that? How can I partner with other researchers who have different expertise?

I would love to see funding agencies incentivize collaboration and partnership with the community of people with autism and their families, to try to have some shared values and priorities. You could argue that the Interagency Autism Coordinating Committee sort of does that. But it doesnt trickle down to the individual researchers.

Theres also a legitimate criticism among autistic people that genetics research is primarily not designed for them, and that its not going to improve their life. Its really hard to argue with that.

Some of the same people will argue that the kind of genetics and genomics research that has historically happened with autism, and is still happening, is really designed to try to make sure that people with autism arent born. I was at an ethics and autism conference a number of years ago, and someone asked me why I wanted to support genetics research and was I a eugenicist. I was really taken aback. I had always seen, and still do see, genetics for the power it can have to improve peoples lives. But it was a pivotal moment for me in thinking about the reasons why many people with autism perceive autism genetics research this way. Autistic people are more studied than they are partners in studies. Thats wrong.

S: Do you think ethics education could help?

HT: I dont think that thats the main solution for autism. What I would love is to have a component of the funding mechanism require engagement with the autistic community. I would like conferences and forums to bring in autistic people along with people who do autism research in genetics and genomics and in totally different areas. This includes conferences that are not autism specific but might have autism genomics research being presented, such as the American Society of Human Genetics or the American College of Medical Genetics meetings.

As a field, we have to be more aware about the context of autism and disability. Autism is very much a target of the medical model of disability. The approach has been, If we could only figure out the causes of autism, then we could prevent it, we could treat it, we could fix it. And there are some things about that that are not wrong. But it also contains a significant component of ableism that autism is such a tragedy. Thats dangerous and, quite frankly, inappropriate.

Moving forward, Im hoping for clinical genomics in general, and autism clinical genomics specifically, to have an anti-ableist view of thinking that doesnt minimize the legitimate quality-of-life issues and medical issues that exist for people with autism, particularly for people with more severe manifestations, but that also doesnt treat it as something we have to fix that were going to have a widely applicable gene therapy for someday.

Cite this article: https://doi.org/10.53053/RTOW6991

See the article here:
Ethical gaps in autism genetics: A conversation with Holly Tabor | Spectrum - Spectrum

Three exceptional scholars at the University of Connecticut have been selected for the highest honor the university bestows on its faculty, the Board of Trustees Distinguished Professor.

Each year, the Office of the Provost seeks nominations from across UConn for the newest cohort of Board of Trustees Distinguished Professors. Candidates must excel in all three areas of research, teaching, and public engagement. A committee of faculty is charged by the Provosts Office to review and select each years honorees from among a competitive pool of nominees.

Honorees retain the title of Board of Trustees Distinguished Professor throughout their career at UConn and receive a $2,500 one-year stipend to be used by each recipient to further their professional activities. The number of available professorships each year is determined by the University by-laws. The Board of Trustees approved the latest cohort of honorees at its April 27 meeting.

The recipients for 2022-23 are as follows, with more detailed biographical information below.

The selection of each new class of Board of Trustees Distinguished Professors highlights how exceptional our faculty are at UConn. These are outstanding scholars who have made significant advancements in their fields, as well as in scientific discovery and community impact within and far beyond our university campuses. I am pleased to honor them with this recognition and congratulate them on this distinction, said Carl Lejuez, provost at UConn.

Laurinda Jaffe

In her research, Jaffe has repeatedly made discoveries that have been key to moving forward our understanding of the physiological mechanisms that produce a fertilization-competent egg and initiate embryonic development upon fertilization. Another major focus in her lab has been how membrane receptors and cyclic nucleotides function in the signaling pathways by which the cells that surround the oocyte in the mammalian ovarian follicle control meiosis. These discoveries have contributed greatly to our understanding of fertility mechanisms. They also provide important paradigms for understanding how cyclic nucleotides can coordinate intercellular communication in multicellular systems.

Over her career, Jaffe has published over 100 scientific papers and book chapters, including five single author or senior author original research papers in Nature and Science. In 2021, she was elected a member of the prestigious National Academy of Sciences in 2021, one of only three members at UConn.

Jaffe has actively participated in formal and informal teaching of graduate, medical and dental students at UConn Health as well as in the mentoring and laboratory teaching of doctoral students and postdoctoral fellows. She came to UConn Health in 1981 and has served UConn and the community for over 40 years. Early in her career, she developed and directed the medical and dental school curriculum in Tissue Biology, which was recognized by the 1988 Loeser Award for Outstanding Teaching. She has also contributed to the summer program for incoming medical students with disadvantaged backgrounds, a program designed to improve diversity in education at UConn Health. In 2018, she was honored with the Excellence in Research Mentoring award given by the UConn School of Medicine. Jaffe also serves on the Graduate Women in Medicine and Science steering committee and has led an initiative to advocate for an increase in endowed chairs for female faculty. For the past 14 years, she has chaired the organizing committee for the annual Richard D. Berlin Lectureship, a campus wide event that brings together many departments. In 2015, she helped to organize an event that brought author Rebecca Skloot and the family of Henrietta Lacks to the Storrs campus.

Rachel ONeill

ONeills work centers on how genomes function and evolve. She uses cutting-edge genomic, computational and imaging approaches to gain fundamental insights into chromosome biology and genome evolution in a wide variety of organisms. Her studies on the structure and function of chromosome centromeres, essential for proper chromosome segregation during cell division, have shaped the field of centromere biology. She is highly sought-after as a collaborator on large-scale national and international projects that require a high-level expertise in genome assembly curation.

ONeills work on repetitive DNA, which makes up about 50% of the human genome but is frequently dismissed as junk DNA, has had far-reaching impact, including on normal fetal and placental development, the discovery of novel retroelements, evolutionary breakpoints and chromosome evolution, and continuing challenges to the centromere paradox. She is part of the team that released the first complete human genome sequence, published in a series of papers in Science. Her 2010 publication titled Chromosomes, Conflict, and Epigenetics: Chromosomal Speciation Revisited, remains one of the most cited reviews from the Annual Review of Genomics and Human Genetics. Collectively, ONeill has published more than 100 peer-reviewed articles and led or contributed to projects that have brought over $23 million in extramural funding to UConn.

ONeill is also the director of the Institute for Systems Genomics (ISG). As Director of the ISG, she has developed multiple new degree programs, initiated core facilities and programs (including the SARS-COV2 Surveillance Program) and established the iGEM and Genome Ambassadors outreach programs. Most recently, ONeill organized and hosted Nobel Laureate Dr. Jennifer Doudna for the ISG Distinguished Lecture series, an event that attracted about 1,800 attendees for the live virtual presentation.

ONeill also is part of the team that spearheaded the COVID-19 testing efforts at UConn that have helped UConn remain safe, efforts that were widely praised throughout the country including by White House Coronavirus Response Coordinator (2020-2021), Dr. Deborah Birx.

ONeill has been recognized with several honors for her teaching, research and service, including a UConn Excellence in Teaching award, a Connecticut Women of Innovation Academic Leadership Award, and is an elected member of the Connecticut Academy of Science and Engineering.

Richard Pomp

Pomp has dedicated his career to promoting fair, efficient, and progressive taxation. States, cities, and countries have valued his guidance on building ethical and sound tax regimes. He is sought after both nationally and globally as a visiting scholar, advisor, and expert witness, counseling cities, states, Indian tribes, the U.S. Congress, the U.S. Treasury, the White House, the Department of Justice, the IRS, the United Nations, the IMF, the World Bank, and numerous foreign countries, including Zambia, Indonesia, Gambia, Mexico, the Philippines, India, the Peoples Republic of China, Vietnam, and the Republic of China.

He served as the hearing officer for the Multistate Tax Commission, revising the existing rules on state corporate income taxation and drafting alternative solutions. He helped design or draft the Navajo tax code, the Connecticut income tax, the Alaska personal income tax (adoption pending), and the federal Internet Tax Freedom Act. He was Director of the NY Tax Study Commission, and was described by the then-governor as the father of fundamental tax reform in NY. He was the only non-resident appointed to the California Commission on the 21st Century Economy. He participates in various capacities in Supreme Court litigation.

Pomp is a remarkably prolific author with 13 books and monographs and more than 140 publications in total. Pomps interdisciplinary work has been relied on by judges to justify their decisions in high-profile cases. His casebook, now in its ninth edition, has been translated in part into seven languages. His work has been described as challenging orthodoxy, exposing fallacies and myths, connecting seemingly disparate concepts, and fundamentally changing the professions views of classical problems.

He has won two awards for his teaching. His classes have been consistently described as transformative, inspirational, innovative, and creative, the reason for coming to UConn Law School.

His views are regularly sought by the media, including CNN, NPR, Bloomberg Radio, Sirius Radio, KCBS, The New York Times, The Wall Street Journal, The Washington Post, the Christian Science Monitor, the Los Angeles Times, the Minneapolis Star Tribune, The International Herald Tribune, and the Hill.

Pomp has received every major award in his field, including NYUs Outstanding Achievement in State and Local Taxation, the Bureau of National Affairs Lifetime Achievement Award, Tax Analysts State Tax Lawyer and Academic of the Year, the Council on State Taxations Excellence in State Taxation Award, and the Connecticut Law Tribunes Professional Excellence Award.

The rest is here:
Three Faculty Selected for Board of Trustees Distinguished Professorship - UConn Today - UConn

A combination of microscopy, tissue preparation, and data innovations could yield first-of-their-kind brain atlases that specify the locations and types of all of the brains 180+ billion cells. Credit: Hillman Lab/Columbias Zuckerman Institute

Columbia-led team wins $9.1 million research grant to create fundamentally new maps that will chart cell diversity throughout the brains of humans.

Researchers at Columbia University and the Icahn School of Medicine are collaborating on a project to create atlases of entire human brains, including all 180 billion cells and counting. This kind of data can help uncover how the structure and organization of the brain give rise to behavior, emotion, and cognition, in sickness and in health.

Until now, cellular-level brain atlasing has been limited to much smaller animals or just smaller sections of the human brain due to the enormous amount of time and vast technical complexity needed for mapping the whole human brain.

Throughout the history of science, new tools have been behind some of the most dramatic advances, said Elizabeth Hillman, PhD, a Herbert and Florence Irving Professor at Columbias Zuckerman Institute and leader of the project. We are developing technologies that should make high-speed, large-scale imaging of tens or even hundreds of human brains a feasible prospect in the next five years. The unprecedented troves of data that we hope to produce should open the way to previously inaccessible knowledge about the human brain.

To enable Dr. Hillman and her collaborators to undertake this ambitious project, the National Institutes of Health BRAIN Initiative recently awarded them a $9.1 million grant. The funding will be shared between Columbia University, the Icahn School of Medicine at Mount Sinai and Carnegie Mellon University. Since 2014, the BRAIN Initiative has invested over $2.4 billion in research funding to boost our understanding of how the brain works. The new project falls under the auspices of the BRAIN Initiative Cell Census Network, which was established in 2017 to encourage researchers to find ways to generate comprehensive brain-cell atlases.

If successful, our microscope should be able to image an entire human brain with cellular detail in a matter of days, said Dr. Hillman, who is also a professor of biomedical engineering and radiology at Columbia. This data will be like Google Earth for the brain, enabling analysis of patterns and distributions of different types of human brain cells across vastly different length scales. To get a feel for the challenge, keep in mind that there are only eight billion people on earth but over 180 billion cells in the brain.

The team isnt interested in just counting cells. Developing a brain map charting the diversity of the many different kinds of cells that make up the brain is a top priority.

We know that the brain contains billions of neurons, but there are many different subtypes of neurons, explains Dr. Hillman. How many there are, how they are organized, and how they vary between different brain regions and different people is largely unknown.

But the brain isnt made only of neurons. Its meshwork includes other types of cells, among them a range of glial cells and cells making up the brains vasculature. All of these cell types are essential for normal brain function and could hold important clues about what goes wrong in disease.

To make these datasets really useful, we have to find a way to capture as much information as possible as we scan the whole brain, said Dr. Hillman, who has a track record of inventing new, powerful, and fast microscope techniques.

If successful, our microscope should be able to image an entire human brain with cellular detail in a matter of days.

For this brain-atlasing project, she is developing another new microscope technique. Its called Human Brain Optimized Light Sheet (HOLiS) microscopy. The team chose the name to emphasize the importance of holistic imaging and analysis of the entire human brain of each individual.

The first step in the imaging process is to carefully cut the brain into 5-millimeter thick sections and process them to make them completely transparent. This almost magical feat is the specialty of co-Principal Investigator on the project, Zhuhao Wu, PhD, assistant professor at Mount Sinais Laboratory of Neural Systems, Structures and Genetics. Dr. Wu has optimized a method for the human brain clearing, which includes a step that can infuse each brain section with a range of fluorescent tags that make it possible to identify individual cells and their diverse properties based on their different colors.

Then comes the HOLiS microscope, which operates at lightning speed to generate massive, technicolor 3D images of each section. The technique works by projecting laser light into the tissue to create a sheet of light that illuminates a very thin tilted plane, while a fast camera captures an image of the same plane. By moving the brain section at constant speed, successive images of each plane can be stacked together to form a long 3D block. The tissue is then scanned back and forth to cover its whole volume before moving onto the next section.

Attempting to image a whole human brain with existing conventional instruments would take years, said Hillman. We hope our HOLiS system will be able to image an entire brain in about a week.

This kind of speed, added Hillman, will take whole-brain imaging from a one-off proof of concept to a technology capable of imaging hundreds of brains. We suspect that every brain will be very different, so we need to be able to image a lot of brains to understand brain diversity across the lifespan, and to ultimately be able to explore a wide range of diseases and disorders.

Another challenge remains however. The team expects each brain-atlasing run to generate some two petabytes of data, a massive amount. Collaborators at the Pittsburgh Supercomputing Center at Carnegie Mellon will help the team to convert these torrents of data into more manageable, searchable and user-friendly databases that can be analysed and compared. Contributing to this crucial aspect of the project with expertise in computer science, machine vision, information theory and statistics are Carl Vondrick, PhD, and Cynthia Rush, PhD, from Columbias Data Science Institute as well as Luke Hammond, Director of the Zuckerman Institutes Cellular Imaging Core.

Among others joining in the effort are Dr. Wus colleagues at the Icahn School of Medicine, including John F. Crary, MD, PhD, director of the schools Neuropathology Brain Bank and an expert in human brain preservation and neuropathology. Alan Seifert, PhD, assistant professor at Mount Sinais Biomedical Engineering and Imaging Institute, will acquire detailed magnetic resonance images of the whole brain before it is cut. This will enable all of the data collected with HOLiS to be registered to current brain atlases and analyzed to compare cellular-level HOLIS data to MRI signal properties. The Icahn team also includes Bradley Delman, MD, professor of radiology, and Patrick Hof, MD, professor of neuroscience, who will contribute their special expertise in neuroradiology and neuroanatomical reading of human brain data.

Adding to the mix of talent on the project is Pavel Osten, MD, PhD, a pioneer in the field of whole-brain cellular imaging and now president, founder and Chief Scientific Officer of a new start-up company. Dr. Osten was instrumental in planning the project and will provide guidance and advice on the best ways to rapidly analyze HOLiS images to find all of the cells and to map information from HOLiS scans onto established anatomical atlases of the human brain.

If we can streamline the process we can build a foundational database that enables analysis of the human brain like never before, said Dr. Hillman. Having this data should accelerate our efforts to understand what so often goes right in the human brain and what goes wrong in developmental, neurological and psychiatric disorders.

Award details are as follows:

Cell type atlasing of whole human brains using HOLiS: an optimized pipeline for staining, clearing, imaging, and analysis (1RF1MH128969-01)

Total Award: $9,121,879 over three years.

Read the rest here:
New Atlases Will Map All 180+ Billion Cells in the Human Brain - SciTechDaily

VRY, France--(BUSINESS WIRE)--Regulatory News:

IntegraGen(Paris:ALINT), a company specializing in the decryption of the human genome, which carries out interpretable genomic analyzes for academic and private laboratories and develops diagnostic tools in oncology and part of OncoDNA Group, today announced its financial results for the year ending December 31, 2021. The annual audited accounts were approved by the companys Board of Directors which met on April 29th, 2022.

Bernard Courtieu, CEO IntegraGen, said: The year 2021 has been outstanding in multiple ways for IntegraGen. First of all, it was the first full year after the friendly takeover bid by OncoDNA and the operational integration of the teams. Then, it was a pandemic year which had a material impact on the activity of the P2M platform of the Institut Pasteur which has been particularly requested for the sequencing of COVID viruses in addition to its usual activities. Finally, IntegraGen continued its streamlining efforts, which made it possible to achieve the break-even point: for the first time, the company achieved a positive EBITDA and net result.

Now part of the OncoDNA Group, IntegraGen can offer a wider range of services and rely on the international sales network, particularly in Belgium and Spain, which offers new growth outlook.

We would like to thank all our customers who have remained loyal during the pandemic period and also all the laboratory and R&D employees who, through their professionalism and commitment, have enabled IntegraGen to exceed its objectives and, above all, contribute to the improvement in patient care.

Increased sequencing for GCS SeqOIA

As a reminder, in 2018 the GCS SeqOIA (made up of Assistance Publique-Hpitaux de Paris [AP-HP], the Institut Curie and the Gustave Roussy cancer center) accepted the offer of IntegraGen for the provision of an operating service for a high-throughput sequencing data production platform.

After the start of the platform's operations in early 2019, the patients sequencing services have progressively increased with in particular the effect of the broadening of the indications. This shows a 24% increase in turnover to 3,341k during the financial year, compared to 2,687k in 2020.

Stability of genomic service activities

Genomic service activities, performed at our site in Evry, include services provided for research laboratories and teams in charge of clinical research. Despite a significant increase of orders received during the year (+22%), the annual turnover recognized during the 2021 financial year fell slightly by 2% to 4,742k. This order increase in 2021 has created a backlog for growth for 2022.

In total, the genomics teams have carried out more than 545 projects for 140 clients, academic and private entities.

Strong increase in services provided for the Institut Pasteur

IntegraGen continued its services for the shared microbiology (P2M) platform of the Institut Pasteur under the contract renewed in March 2020. The IntegraGen teams provided their support to the Institut Pasteur, which was in high demand as part of the Covid-19 virus pandemic and variant sequencing needs, leading to a significant increase in volumes. This contract generated 2,386k revenues, compared to 1,147k in 2020.

In 2021, the platform operated by IntegraGen for the Institut Pasteur carried out nearly 64,822 microbial sequencings, including 39,495 for SARS-Cov-2.

Increase in sales of genomic data interpretation solutions

The company offers three distinct software tools for interpreting genomic data which are available in the cloud as SaaS solutions. Mercury, which is utilized for the interpretation of data from patients with cancer; Sirius, for the analysis of research samples with a focus on research applications in constitutional genetics; and, Galileo, for RNA expression analysis. Sales increased modestly to 259k compared to 209k in 2020. Sales of analysis and consulting services (GeCo activity) fell to 95k.

2021 FINANCIAL RESULT

Continued improvement in operating income

In thousands of euros (k)

2021

2020

Var. %

Revenues

11.324

9.000

26%

Other operating revenues

222

146

52%

Total revenues

11.546

9.146

26%

EBITDA

170

-28

EBIT

-44

-254

83%

Pre-tax current result

82

-256

Net result

15

-375

Operating income continues to improve thanks to sales growth, the commercial and scientific development efforts carried out in recent years, as well as the rigorous management of resources.

2021 revenues amounted to 11,324k, up 26% compared to the previous year. Excluding recharge of personnel costs to the parent company (546k), turnover amounted to 10,823k representing a growth of 20% compared to 2020 (9,000k).

Operating expenses amounted to 11,589k, up 23% compared to 2020. This increase is explained by various factors including the increase in the cost of consumables, the recharge of personnel costs by the parent company (512k), the increase in payroll costs following the recruitments made over the last twelve months. Over the period, the average workforce increased from 43 to 49 people. This increase also illustrates the investments in Quality in the scope of the certifications of our laboratory at Evry.

EBITDA was positive at 170k compared to a loss of 28k in 2020.

The financial result shows income of 126K, following the sale of securities compared to a loss of 2K in 2020.

The exceptional result is a net loss of 197 K which is mainly explained by restructuring costs.

Research & Development and innovation efforts have generated a tax credit of 130k compared to 92k in 2020.

The 2021 financial year ended with a positive net result of 15k in 2021 compared to a loss of 375k in the previous year.

A solid balance sheet

In thousands of euros (k)

31/12/2021

31/12/2020

Fixed assets

624

874

Stock

342

238

Accounts receivables

3.358

2.142

Other receivables

491

444

Cash

4.781

5.124

Current assets

8.972

7.948

Translation difference

8

0

TOTAL ASSETS

9.604

8.822

In thousands of euros (k)

31/12/2021

31/12/2020

Shareholders equity

2.186

2.171

Provisions for risks and charges

8

53

Financial debt

1.953

2015

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IntegraGen Reports 2021 Annual Results With a Strong Growth of 20% in Revenue From Current Operations and a Significant Profitability Improvement -...

Solvin Zankl / NPL / Minden Pictures

Experiments with fruit flies have enabled researchers to assess the biological impacts of dozens of rare genetic mutations found in autistic people, a new study finds.

We are using fruit flies as living test tubes to study which genetic variants identified in autism spectrum disorder patients have functional consequences, says co-lead investigator Shinya Yamamoto, assistant professor of molecular and human genetics at Baylor College of Medicine and an investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital in Houston, Texas.

The work focused on one kind of genetic alteration that occurs more often in autistic people than in non-autistic people and is especially challenging for scientists to understand: missense mutations, in which a swap of a single DNA letter alters one amino acid in a protein.

Whereas some autism-linked genetic anomalies will clearly greatly modify the workings of genes and their resulting proteins, missense mutations are more like misspellings that are less clear whether they matter or not, says co-lead investigator Michael Wangler, assistant professor of molecular and human genetics at Baylor and an investigator at Texas Childrens. These missense changes could be noise, or they could be important for autism spectrum disorder.

Understanding the roles played by genetic variants of unknown significance is one of the biggest problems in medical genomics and a daily challenge for our clinical colleagues, says Annette Schenck, chair and professor of translational genomics of neurodevelopmental disorders at Radboud University Medical Center in Nijmegen, the Netherlands, who did not participate in this work. The new study is spot-on, addressing this problem in an impressive scale, she says.

The scientists engineered 79 autism-linked variants most of which are missense variants into the equivalent genes in fruit flies, or Drosophila. The variants came from the Simons Simplex Collection, a repository of genetic data from families with one autistic child. (The dataset is funded by the Simons Foundation, Spectrums parent organization.)

The researchers discovered that 30 of these changes had significant consequences for the flies, such as a reduction in courtship behaviors; greater or lesser amounts of grooming; smaller eyes; and smaller, crumpled, serrated, blistered or absent wings.

The fly is an excellent tool for understanding genes, Wangler says. We can use tissues like the wing or eye to find how the genetic mechanisms work, and then see how those mechanisms might be at work in autism spectrum disorder.

By using the online matchmaking software GeneMatcher and examining human genetics databases and clinical genome-sequencing data, the researchers found an additional 13 unrelated people with and without autism traits who carry rare variants in one of the genes linked to disruptive effects in fruit flies: GLRA2, which helps control the chemical messenger glycine in the brain. These people show a spectrum of neurodevelopmental conditions, such as autism, epilepsy, developmental delay, intellectual disability, microcephaly (a small head) and nystagmus (involuntarily moving eyes).

A mutation seen in one of the people likely stopped GLRA2 from functioning in fruit flies and may have reduced communication between neurons, the researchers found. Another persons mutation triggered the formation of dark nodules in the bodies of the insects, possibly the result of an immune reaction, and may have increased communication between neurons.

Of the 30 mutations that had disruptive effects on fruit flies, computer models previously predicted that 4 would not prove damaging and that 9 would have only moderate effects, which shows the importance of performing experiments at the bench to study the functional consequence of missense variants, Yamamoto says. We hope that some of our data can be used by researchers who are developing these bioinformatic tools so their performance can be improved.

The scientists detailed their findings March 15 in the journal Cell Reports.

One interesting finding was the unpredictability of some of their results, says Lawrence Reiter, professor of neurology at the University of Tennessee Health Science Center in Memphis, who did not take part in this research. For example, some variants led to a loss of function of their genes in the eye but a gain of function of those genes in the wing, he notes. In other words, not all genetic variants are necessarily acting the same in all tissue types.

The scientists cautioned that although these 30 mutations did have strong consequences in fruit flies, we are not trying to claim that all 30 of these variants cause autism spectrum disorder, Yamamoto says. Previous research estimated that 13 percent of the spontaneous, or de novo, missense variants identified in autistic people in the Simons Simplex Collection contribute to an autism diagnosis. We show that GLRA2 is one such promising gene, based on matchmaking and additional functional studies, but additional work is required to validate the other candidate genes and variants from our study.

The strategy could help researchers investigate other human mutations of unknown significance, Reiter says. They have barely scratched the surface of what is possible even for the Simons Simplex Collection, he adds, targeting only about 11 percent of the fly counterparts to de novo mutations in that database. This process, while still being streamlined, could be used for any large collection of human variants suspected of causing genetic disease.

Cite this article: https://doi.org/10.53053/EDJW6706

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Fruit flies help reveal effects of autism-linked mutations | Spectrum - Spectrum