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Study probes the relationship between genetics, proteins, and disease risk – The Hub at Johns Hopkins

Posted: May 15, 2022 at 2:23 am

ByAnnika Weder

A nearly 40-year-old study is the basis for new groundbreaking collaborative research identifying the relationship between genetics, proteins, and disease risk, while shedding light on racial health disparities in the process.

The new study, the results of which have been published in a paper in Nature Genetics, has provided a wealth of information that will allow the research community to test the ways in which proteins affect health outcomes, such as the risk for developing various types of cancer or heart disease or contracting COVID-19. The work could also lead to the development or repurposing of therapeutic drugs to treat human disease. The researchers hope the study will increase the understanding of the genetic basis of disease, in particular because the diversity of study participants will unlock new information about the links between proteins and disease.

The makings of this comprehensive study date back to the mid-1980s, when the Atherosclerosis Risk in Communities study was launched with Josef Coresh from the Department of Epidemiology in the Bloomberg School of Public Health as a principal investigator. ARIC, for which Johns Hopkins is a key field center, investigated causes of atherosclerosisa disease characterized by the build-up of fats, cholesterol, and other substances in the walls of arteriesand measured how cardiovascular risk factors, medical care, and outcomes vary by race, sex, place, and time.

The study was notable in two critical ways: it followed individuals for decades, collecting biological samples at regular intervals; and it included Americans of European ancestry as well as Americans of African ancestry. Beginning in 1987, more than 10,000 participants regularly received physical examinations and follow-up phone calls to maintain contact and to assess the health status of the cohort. Data collected include participants' medical history, demographics, health behaviors, and genetic information. The ARIC study has become a valuable resource, resulting in over 2,500 publications to date. Many independent research projects have used ARIC data for a range of topics including the study of heart disease, kidney disease, diabetes, and cognitive decline.

When Nilanjan Chatterjee, Bloomberg Distinguished Professor of biostatistics and genetic epidemiology, learned through graduate students he was co-advising with Coresh that ARIC also collected participants' proteomic datainformation about the proteins present in organismshe realized the immense untapped potential this resource held.

Image caption: Nilanjan Chatterjee

Image credit: CHRIS HARTLOVE

Proteins have a central role in many biological functions, supporting the structure, function, regulation, and repair of organs, tissues, and cells. Proteins support muscle contraction and movement, for example. They transmit signals to coordinate processes between different organs and move essential molecules around the body. Antibodies that support immune function, hormones that help coordinate bodily function, and enzymes that carry out chemical reactions such as digestion are all proteins. Because proteins control many of the mechanisms critical to an organism's health, diseases can often trace their origins to mutations in proteins.

Proteomics, the systemic analysis of proteins, gathers information about the proteome, the complete set of proteins produced by a given cell, organ, or organism. It falls under a class of disciplines collectively referred to as omics, which aim to collectively characterize the groups of biological molecules that translate into the structure, function, and dynamics of an organism. Other examples of omics studies include genomics, the study of an organism's full genetic information; epigenomics, the study of the supporting structure of the genome; and transcriptomics, the study of the set of all RNA molecules.

"ARIC is an incredibly unique data source, both because of the amount of genetic, proteomic, and other omic data they have on such a large number of study individuals, and because of its inclusion of individuals from European and African ancestries," says Chatterjee. "Diverse ancestry data is completely lacking in many omics studies. ARIC had a wealth of proteomic data that had not been analyzed, so we were very happy to take advantage of this incredible resource available to us right here at Johns Hopkins."

For their study, the researchers first analyzed genetic variants that correlate with protein levels in individuals to identify protein quantitative trait loci, or pQTL, portion of DNA. They then developed machine learning-based models that can predict information about an individual's proteinsinformation that is not always collectedbased on genetic information, which is often more accessible in large-scale studies.

Nilanjan Chatterjee

Bloomberg Distinguished Professor of biostatistics and genetic epidemiology

This model in turn will allow scientists to identify links between the levels of certain proteins in an organism and its corresponding disease risk. Knowing which proteins to target in order to prevent development of a disease is crucial for developing new drug therapies or repurposing existing drug therapies, as many drugs work by targeting the body's proteins.

To demonstrate how the model works, the team applied it to proteome-wide association studies for two related traits: gout, a common form of arthritis, and its closely related biomarker, uric acid. The results showed that an existing drug could be repurposed to combat gout.

"'Omics' innovations have made multi-disciplinary collaborations necessary, exciting, and productive," says Coresh. "The lived experience of over 10,000 participants in the ARIC cohort, combined with data on nearly 5,000 protein levels in their blood, allowed for the development of tools that are broadly applicable to human health and disease. We have already seen more than a half a dozen new investigations using the tools and the methods will be even more broadly applicable."

For Chatterjee, the study's powerful models and insightful findings underlined the importance of using diverse populations in genetic and omics studies.

"African populations in particular have a lot more genetic variation because the population is older," Chatterjee says. "Excluding people of African ancestry means we miss out on a large fraction of genetic variations and how it impacts health outcomes. Taking results from a genome-wide association study done with only individuals of European ancestry and trying to apply the results to other populations does not work as well for understanding disease risk, which is not surprising. To best serve all patients, diversity in omics studies is imperative."

Josef Coresh

Epidemiologist and principal investigator on the ARIC study

In addition, the team found that information garnered from populations of African ancestry added incredible value for interpreting results from study participants overall.

"Because European populations are newer, their genes are more confoundedmany variants always come together, and it is difficult to determine which genetic variant is causally related to a trait," Chatterjee explains. "African populations are older, and over more generations, the tight linkage among variants have broken down and it becomes possible to identify which variants are most likely to be the causal variant for a trait."

Looking forward, for Chatterjee, an exciting aspect of this project was the immense potential for impact these models have. Chatterjee hopes that a multi-omics approach in a multi-ancestry study will unlock a more comprehensive understanding of the genetic basis of complex disease and how that genetic basis arises. Next steps may include developing and improving statistical and machine learning models to combine data from populations of multiple ancestries, data from other types of -omics studies, and extending analysis to rare variants.

The authors emphasize that the study would not be possible without the strong partnerships and collaborations across Johns Hopkins and beyond, including the sophisticated data analysis led by Department of Biostatistics PhD student Jingning Zhang and post-doctoral fellow Diptavo Dutta.

Given the collaborative nature of the undertaking, it was important to the team to make the resources and models they developed available to others. They have made the models available online.

"Anyone can download these models for use in their own study to test for the effect of proteins on whichever traits they are investigating," Chatterjee explains. "Our work has already generated ideas for many follow-up studies using proteomic data, and it has been exciting to see that, in fact, people have already started using the models in their own protein association studies."

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Not All Is Rosy For The Pink Pigeon – Eurasia Review

Posted: May 15, 2022 at 2:23 am

The authors of a major study on the once critically endangered pink pigeon say boosting the species numbers is not enough to save it from extinction in the future.

Despite the population increase, the teams analysis shows the pink pigeon has a high genetic load of bad mutations, which puts it at considerable risk of extinction in the wild within 100 years without continued conservation actions.

An international collaboration led by scientists from the University of East Anglia (UEA), Durrell Institute of Conservation and Ecology (DICE) at the University of Kent and the Earlham Institute in the UK, working with organisations on the ground in Mauritius, investigated the genetic impacts of a population bottleneck a rapid collapse in numbers that affected the pink pigeon from Mauritius in the late 1980s, with only 12 birds surviving in the wild.

The team analysed the DNA of 175 birds sampled over nearly 20 years as subsequent conservation efforts took place.

With the help of biologists from the Mauritian Wildlife Foundation and the Durrell Wildlife Conservation Trust, and in partnership with the Government of Mauritius National Parks and Conservation Service, the free-living population of the species has increased to around 500 birds.

Consequently, the pink pigeon has been down-listed twice on the International Union for Conservation of Nature Red List from critically endangered to vulnerable.

However, to keep these populations viable, the researchers warn that genetic rescue is needed to recover lost genetic variation caused by inbreeding and to reduce the effects of the harmful mutations. This can be achieved by releasing captive-bred birds from UK and EU zoos.

The study, published inConservation Biology, used conservation genetic work at DICE, cutting-edge genomic techniques developed at UEA and the Earlham Institute, and computer modelling to closely examine the species DNA and assess the risk of future extinction, as well as forecasting what needs to be done to secure the pink pigeons viability. The authors say their findings could help other threatened species.

By studying the genome of a recovered species that was once critically endangered, we can learn how to help other species to bounce back from a population collapse, said UEAs Prof Cock van Oosterhout, one of the lead authors.

During the pigeons population bottleneck, the gene pool lost a lot of variation, and many bad mutations increased in frequency. This genetic load still poses a severe threat, even though the population has recovered in numbers.

Prof van Oosterhout, of the School of Environmental Sciences at UEA, added: The problem is that all individuals are somehow related to each other. They are the descendants of the few ancestors that managed to survive the bottleneck. Hence, it becomes virtually impossible to stop inbreeding, and this exposes these bad mutations. In turn, this can increase the mortality rate, and it could cause the population to collapse again.

Prof Jim Groombridge, from the University of Kent, explained how the initial recovery of the pink pigeon population was achieved: A captive population of pink pigeons in the Gerald Durrell Endemic Wildlife Sanctuary in Mauritius, jointly managed by the Mauritian Wildlife Foundation and the National Parks and Conservation Service, was established in the 1970s.

This was used to breed birds for release into the wild, which boosted population numbers. The team also restored habitat by controlling introduced species and provided supplementary food as part of a field programme of intensive conservation management, which further increased the free-living population.

The study used sophisticated software called SLiM that can model an entire bird chromosome, including all its bad mutations. The researchers simulated the bottleneck and population recovery, and then they compared the predicted outcomes of different reintroduction programmes. The study was therefore able to predict the viability of the population in the future under different conservation management scenarios.

We didnt know how many bad mutations the population carried initially, before the bottleneck, said Dr Hernan Morales from University of Copenhagen, in Denmark, who performed the SLiM modelling. We first had to simulate the ancestral population to find out how many bad mutations could have evolved. We then checked this data with data on inbreeding depression data from zoo populations of the pink pigeon.

Using pedigree and fitness data held at Jersey Zoo for over 1000 birds, the team estimated the genetic load, which showed that the pink pigeon carried a high genetic load of 15 lethal equivalents. This was then used to calibrate the computer models.

The computer simulations clearly show that just boosting numbers isnt enough, added Dr Morales. The population also needs genetic rescue from more genetically diverse birds bred in European zoos. These birds are not as closely related, and they can help to reduce the level of inbreeding. However, there is a risk that we could introduce other bad mutations from the zoo population into the wild.

Dr Camilla Ryan, who worked on the project at the Earlham Institute and UEA, said: Our bioinformatics analysis indicated the importance of genetic diversity and the uniquegenetic rescuemodel to help other species from the brink of extinction. This research highlights the value of collaborations between NGOs, institutes and universities which draw together a range of expertise. This ensures that a holistic approach is taken to a species conservation which includes an understanding of its genetic health.

Sam Speak, a PhD student at UEA and co-author of the paper, added: We are now analysing the genome of the pink pigeon from zoo populations here in the UK, trying to locate these bad mutations. We can do this now using bioinformatics tools developed for studying human genetics and the genomes of other model bird species such as the chicken.

By using conservation genomics, future reintroduction programmes can avoid releasing individuals with high genetic load. This would help reduce inbreeding and improve the long-term recovery of threatened species such as the pink pigeon.

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Singular Genomics Announces Formation of Scientific Advisory Board – BioSpace

Posted: May 15, 2022 at 2:23 am

LA JOLLA, Calif., May 10, 2022 (GLOBE NEWSWIRE) -- Singular Genomics Systems, Inc. (Nasdaq: OMIC), a company leveraging novel next-generation sequencing (NGS) and multiomics technologies to empower researchers and clinicians, today announced the formation of its scientific advisory board (SAB). The SAB comprises a distinguished group of academic and industry experts who will advise on the companys product and service offerings and research and development pipeline.

We are pleased to announce the launch of our scientific advisory board and are privileged to work with such accomplished leaders in science and medicine, said Eli Glezer, Ph.D., Founder and Chief Scientific Officer of Singular Genomics and newly appointed Chair of the SAB. This groups expertise in DNA sequencing, human genetics, oncology and immunology will be an invaluable resource as we expand the applications of our G4 sequencing system and develop the PX platform as a powerful tool for spatial biology.

The members of Singulars SAB include:

About Singular Genomics Systems, Inc. Singular Genomics is a life science technology company that is leveraging novel NGS and multiomics technologies to build products that empower researchers and clinicians. Our mission is to accelerate genomics for the advancement of science and medicine. Our Singular Sequencing Engine is the foundational platform technology that forms the basis of our products as well as our core product tenets: power, speed, flexibility and accuracy. We are currently developing two products that are purpose-built to target applications in which these core product tenets matter most. Our first product, the G4, targets the NGS market. Our second product in development, the PX, combines single-cell analysis, spatial analysis, genomics and proteomics in one integrated instrument to offer a versatile multiomics solution.

Forward-Looking Statements Certain statements contained in this press release, other than historical information, may constitute forward-looking statements within the meaning of the Federal securities laws. Any such forward-looking statements are based on our managements current expectations and are subject to a number of risks and uncertainties that could cause our actual future results to differ materially from our managements current expectations or those implied by the forward-looking statements. These and other risk factors that may affect our future results of operations are identified and described in more detail in our most recent filings on Forms 10-K and 10-Q and in other filings that we make with the SEC from time to time, including our Quarterly Report on Form 10-Q for period ended March 31, 2022, filed with the SEC on May 10, 2022. Accordingly, you should not rely upon forward-looking statements as predictions of future events or our future performance. Except as required by applicable law, we undertake no obligation to update publicly or revise any forward-looking statements contained herein, whether as a result of any new information, future events, changed circumstances or otherwise.

Investor ContactMatt Clawson949-370-8500ir@singulargenomics.com

Media ContactDan Budwick, 1AB973-271-6085dan@1abmedia.com

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COVID Resistance Might Be Tied To Genetics: Experts – Medical Daily

Posted: May 15, 2022 at 2:23 am

A small demographic may have the key to better understanding how humans are at risk for a COVID-19 infection. Scientists are now looking into a group of people who never contracted the novel coronavirus throughout the pandemic despite the emergence of more transmissible variants.

Around one in ten people in England seemingly have some sort of resistance to COVID-19 because they never caught the virus since the pandemic started. Because of this, scientists are eager to know if this group of people could lead them to a potential cure for the disease.

A study launched late last year introduced a global effort to dissect the human genetic basis of resistance to the life-threatening disease caused by SARS-CoV-2. The team behind it proposed a strategy to determine, recruit and genetically analyze the people who showed natural resistance to COVID-19 infection.

The researchers noted that several candidate genes could be involved in providing inborn resistance to COVID-19 in certain individuals. By understanding them, the team could identify mechanisms that possibly restrict viral replication and promote resilience upon infection.

What we are looking for is potentially very rare genetics variants with a very big impact on the individual, lead researcher Andrs Spaan, a clinical microbiologist from the Rockefeller University in New York, told The Washington Post.

The international study already has 700 participants. More than 5,000 people believed to also be immune to the virus are also being screened by the scientists for the research.

There is a theory that some people may have not contracted COVID-19 due to fewer receptors in their noses, throats, and lungs, making it difficult for the coronavirus to bind and cause an infection. This was brought up because there were health workers who did not wear face masks at the peak of the pandemic and still tested negative for COVID every week.

There is also a possibility that the same group of people might have been previously exposed to a similar virus that gave their immune systems a boost and protection against SARS-CoV-2, as per HuffPost.

For the international study, the team is more focused on uncovering if some people were born with a particular immune system armed with the right genetic materials to combat SARS-CoV-2. Finding answers to this could help the medical community better deal with the situation and come up with the right drugs to counter the virus and its newer strains.

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Gut Microbiome Composition Predictive of Patient Response to Statins – Business Wire

Posted: May 15, 2022 at 2:23 am

SEATTLE--(BUSINESS WIRE)--More than 40 million Americans take statins, the most common type of prescription drug. While statins have been shown to effectively lower cholesterol levels and reduce the risks of stroke and heart attack, they do not work the same for everyone, and side effects of statin use include an increased risk of developing type 2 diabetes.

Researchers from Institute for Systems Biology have shown that different patient responses to statins can be explained by the variation in the human microbiome. The findings were published today in the journal Med, and offer promising avenues for optimizing precision statin treatments for individual patients.

The research team found that the composition and diversity of the gut microbiome is predictive of the efficacy of statins and the magnitude of negative side effects.

Specifically, we found that a Bacteroides enriched microbiome with lower levels of diversity was associated with the strongest LDL-lowering response to statins, but also coincided with the greatest disruption to blood glucose levels, said Dr. Tomasz Wilmanski, lead author of the study.

The team also found that individuals with a Ruminococcaceae enriched microbiome were protected from the negative side effects of statins on insulin resistance while also showing a clear LDL-lowering response.

Wimanski and his colleagues built statistical models with microbiome, metabolome, human genome, and clinical records from an American cohort of more than 1,800 people and made their initial discoveries about variable statin effects on both cholesterol and blood glucose markers. Next, they validated their results in an independent European cohort of nearly 1,000 people.

The unique combination of microbiome and genomic information in this study provides exciting new insights into potential approaches to precision drug treatments.

The genetic fingerprint of a patient, which includes known genetic markers of statin treatment response, has already been leveraged in the clinic to guide personalized statin treatment regimes. In this study, the authors found that the variability in statin responses explained by the microbiome were completely independent of the variability captured by the genome. Its a completely different axis of variability, so were able to build models including both genetics and the gut microbiome to improve our statin response predictions, Wilmanski said. The genome and the microbiome, together, appear to provide a more comprehensive and complementary picture of personalized drug responses.

A logical follow-up to this work is a clinical trial. It would be great to take this knowledge about the genome and the microbiome and predict personalized dosing regimens for a cohort of patients, and then follow these patients forward in time, tracking their metabolic health and their LDL cholesterol levels, to show that this population of patients undergoing a precision intervention do better than a control group of patients who are getting what is normally prescribed, said ISB Assistant Professor Dr. Sean Gibbons, a corresponding author on the paper.

About ISB

Institute for Systems Biology (ISB) is a Seattle-based non-profit biomedical research organization. We focus on some of the most pressing issues in human health, including aging, brain health, cancer, COVID-19, and many infectious diseases. ISB is an affiliate of Providence, one of the nations largest not-for-profit health care systems. Follow us at http://www.isbscience.org and on YouTube, Facebook, LinkedIn and Twitter.

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Letter: Why no to Roe and abortion – INFORUM

Posted: May 15, 2022 at 2:23 am

Ive been reading the many recent letters regarding the likely reversal of Roe v. Wade. The writer of The case for overturning Roe v Wade has it right by pointing out that there is absolutely nothing in the U.S. Constitution that provides for a right to abortion. The writer however said he was pro-choice, stating that one of the reasons for this was the small size of the unborn baby at the time of most abortions. But of course we were all small during those first several months in our mothers womb, and yet our complete human genetics were already set from the moment of conception.

The writer also said that women should have absolute bodily autonomy, again intentionally ignoring the absolute scientific fact that theres another body involved - that of her not yet born little girl or boy. We keep hearing follow the science, but when the science shows 100% that unique human life begins at conception, abortion supporters pretend science doesnt matter here.

Another writer mistakenly took it upon himself to be able to look into everyone elses hearts and minds and decide that Its about control, not babies . By this he meant people trying to control women. While I dont have the ability to judge others like that writer, I do know from years of working with pro-life that it is about both protecting unborn babies, and offering life-options help to women. Thankfully, I found one point of agreement in his letter, that being that God still loves those who choose abortion. Such merciful love provides forgiveness and restoration for those who repent and receive it.

Several writers blamed the Catholic Church for Roes reversal. While Catholics have been at the forefront working to restore protection for innocent human life in the womb; be assured that there are also tens of millions of other-than-Catholics who are working and praying for this as well.

Also, we keep hearing of the need for abortions to be legal and safe. Well, as pointed out above, legal abortions certainly arent safe for the 50% of the human lives involved who are killed by abortion. In addition, many of the legal abortions arent physically safe for the mother as well. And, they certainly arent safe emotionally, as there is often a lifetime of guilt to deal with.

The bottom line is that intentionally killing innocent human life is most certainly not reproductive health care. Rather, we need to continue to support women who find themselves in an unexpected pregnancy - as is being done with the ever increasing number of pregnancy help centers and homes, church programs and adoption options. Where there is genuine medical need during a pregnancy, there is help available to protect both the life of the mother and her unborn.

Finally, as another writer pointed out, its way past time to stop pretending otherwise - abortion ends the life of a unique and innocent human being! Every human life conceived is a gift of God, created in his image. May we all say no to Roe and yes to life!

Ken Koehler lives in West Fargo.

This letter does not necessarily reflect the opinion of The Forum's editorial board nor Forum ownership.

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Finding A Place In Science – Texas A&M Today – Texas A&M University Today

Posted: May 15, 2022 at 2:23 am

Texas A&M senior biology major Annabel Perry 22 is graduating with a bachelor of science in biology.

Courtesy photo

Every picture tells a story. One of Annabel Perrys childhood favorites features her as a grinning 10-year-old clutching a gigantic bullfrog, a slightly out-of-focus snapshot of both place and time that captures her budding interest in the natural world and her future as a scientist a career path and underlying passion accelerated by undergraduate research and key faculty mentors at Texas A&M University.

This little girl with the bullfrog, however, didnt start out with all the tools she needed to succeed as a scientist. Perry, who was homeschooled as a child in Milford, Texas, grew up believing that women were less logical than men, evolution was not real and human behaviors were not biologically determined. She didnt seriously question those beliefs until, at the age of 16 after researching disordered eating in a dual-credit course, she realized she had a serious eating disorder an awakening that not only propelled Perry to seek professional mental health treatment, but also instilled in her a desire to understand the biological underpinnings of psychiatric disorders.

This early experience with mental health care taught me that science can explain behavior and improve lives, Perry said. So, in fall 2018, I entered Texas A&M University with a plan to scientifically study psychiatric disorders. Experiences at Texas A&M and beyond developed this curiosity into a passion for cognitive evolution and showed me there is a place in the world of science for the little girl with the bullfrog.

Although Perry had planned to research disordered eating as a freshman at Texas A&M, she found no professors working on the topic. However, she soon discovered an intriguing alternative in Texas A&M psychologist and neuroscientistBrian Andersons laboratory, which explores how reward and punishment influence learning and attention.

In this lab, I monitored an automated shock machine and recorded results as human subjects completed attention-intensive tasks, Perry said. During the course of such work, I discovered that I am interested not only in psychiatric disorders, but in all manner of cognitive traits.

Perry at age 10.

Courtesy photo

Because Perrys interest extended far beyond the proximate causes of behavior, she enrolled in Texas A&M biologistDuncan MacKenzies honors freshman biology course. In addition to learning about evolution for the first time, she says she fell in love with the interconnected mechanisms, puzzle-solving and predictive power of evolutionary theory and wanted to pursue that passion by researching evolution.

I particularly wanted to research the evolution of sex differences, as Id been raised on stereotypes about cognitive differences between the sexes and wanted to learn their biological truth, Perry said. So I joined Texas A&M biologistGil Rosenthals laboratory, which studies sexual selection and mating behavior in swordtail fish.

After learning to use the labs tracking software used to study sex differences in swordtails, Perry realized that computational skills would be integral to her success as an evolutionary biologist. When the COVID-19 pandemic forced the Rosenthal lab to work from home, Rosenthal encouraged all members to begin learning the Python coding language. Rosenthal recognized Perrys potential as a computational biologist and asked her to spearhead a bioinformatics project to detect variable DNA regions in hybrid swordtail fish.

I took this opportunity to prove to the little girl with the bullfrog that gender does not determine her analytic ability, Perry said. I spent summer 2020 teaching myself R and C++. Since there was no existing program that could detect the DNA regions, I taught myself R to create my own. But R could not process such large data, so I taught myself the more robust but notoriously daunting language C++. The C++ version of my program, Polly, ran successfully but categorized the wrong regions as polymorphic. So, I fixed Polly, getting it to correctly detect these regions in February 2021.

Bolstered by her burgeoning confidence in both coding and research, Perry excelled in graduate-level courses on experimental design and evolution as a junior and senior, respectively. In addition to beginning another C++ program for calculating linkage disequilibrium scores, she was accepted into a summer 2021National Science Foundation Research Experiences for Undergraduates (REU) programat Florida Atlantic University. As fate would have it, she worked with Erik Dubou andAlex Keene who coincidentally accepted a new position as head of theTexas A&M Department of Biologywhile she was in Florida to study the evolution of anxiety in cavefish. Together, they developed a computational neural network for classifying behaviors and used it to quantify anxiety in the Mexican tetra model organism.

During this project, I was simultaneously making Polly more biologist-friendly by making it accessible through an easier-to-use coding language, Perry said. By the end of summer 2021, I finished both the REU and Polly projects. I am first author on the Polly manuscript, which is currently under peer review atMolecular Ecology Resources.

By the time Perry returned to Texas A&M for her senior year in August, Rosenthal had moved to Italy, and Keene had begun his appointment as head of Texas A&M Biology. While simultaneously completing her Rosenthal lab projects remotely, Perry began conducting anUndergraduate Research Scholars thesiswith Keene and fellow Texas A&M biologist/computational evolutionary geneticistHeath Blackmonas one of the College of Sciences 12 inauguralScience Undergraduate Research Opportunities Program (SUROP)awardees. For this project, she coded a web-based tool, dubbedCaveCrawler, to analyze genetics data in the Mexican tetra, an emerging model system to study the evolution of sleep and potentially many other cognitive and physiological traits. A preprint of the resulting publication, CaveCrawler: An interactive analysis suite for cavefish bioinformatics, was uploaded to the open access repositorybioRXivin December and since has been accepted for publication by the Genetics Society of America journalG3: Genes | Genomes | Genetics.

Annabel is remarkably talented, and her productivity was at the level of a senior graduate student, Keene said. What really sets her apart is her enthusiasm for science and her ability to elevate everyone around her.

In between semesters in January, Perry traveled to central Mexico to conduct field research with Rosenthal and fellow swordtail lab members at the Centro de lnvestigaciones Cientificas de las Huastecas Aguazarca, also known asCICHAZ. Roughly a month later, she was the only undergraduate who presented her research at the7th annual Cavefish Meeting, held February 27-March 4 in San Antonio. She also presented on her research and life-changing undergraduate experience at the April 1 College of Science External Advisory and Development Council spring meeting.

On Saturday (May 14), Perry will graduate from Texas A&M with her bachelor of science in biology with honors along with double minors in neuroscience and philosophy. In addition to being recognized as a University Scholar, Undergraduate Research Scholar and Honors Fellow, she was a finalist for the 2022 Brown Foundation-Earl Rudder Memorial Outstanding Student Award honoring the top graduating seniors across the entire Texas A&M campus. This fall, she will head to Harvard University to pursue her Ph.D. working withDavid Reich in the Department of Human Evolutionary Biology,

Working with someone like Annabel could rekindle anyones enthusiasm for science, Rosenthal said. When the pandemic hit, we did a weekly Python workshop as a lab over zoom. We went through the wonderful Rosalind website, which presents every new technique as a puzzle. She left the rest of us in the dust as she solved each puzzle with ever-growing enthusiasm, till she was out of puzzles that other people had already solved. Now shes applying her full intellect and creativity to problems no one knows the answer to. Her infectious curiosity and her intellectual humility are just what Harvard needs.

As she prepares to walk the Reed Arena stage, Perry says she is not only grateful for being able to stand on the shoulders of many, including her mentors at Texas A&M, but also eager to pay those opportunities forward to benefit other aspiring scientists in the making.

A neuroscientists job is not just to investigate the innerworkings of the human brain, but also to help other people realize the power of their own minds, Perry said. In graduate school, I plan to start coding workshops for rural children. My eventual goal is to run my own lab where I mentor budding young scientists and use computational approaches to research cognitive evolution. Once I have my own lab, I will continue this mentorship to show them that they, like the little girl with the bullfrog, can achieve their intellectual potential.

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

Posted: May 15, 2022 at 2:23 am

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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Parag Agrawals wife Vineeta linked with Musks Twitter takeover – The Siasat Daily

Posted: May 15, 2022 at 2:23 am

New Delhi: Vineeta Agarwala, the wife of Twitter CEO Parag Agrawal, is now making headlines amid Elon Musks $44 billion takeover deal.

Her role as general partner at Andreessen Horowitz (a16z) a top US VC firm which has agreed to pay $400 million as part of Musks new $7.1 billion financing commitments is set to create a conflict of interest.

As a general partner at Andreessen Horowitz, she leads investments for the firms bio and health fund across therapeutics, life sciences tools/diagnostics, and digital health, with a focus on companies leveraging unique datasets to improve drug development and patient care delivery.

Andreessen Horowitz is also one of the biggest backers of Facebook (now Meta).

Prior to joining a16z, Vineeta held many different roles in the healthcare space.

She was a physician taking care of patients, an operator at health tech startups and as a venture investor on the Google Ventures life sciences team.

She was an early data scientist at Kyruus, a management consultant for biotech, pharmaceutical, and medical device clients at McKinsey & Co; and a director of product management at Flatiron Health.

She has collaborated with academic researchers at Cold Spring Harbor Laboratory, Lawrence Livermore National Laboratory, and the Broad Institute, where she did graduate work in computational biology and human genetics.

Vineeta holds a Bachelor of Science in biophysics from Stanford University, and MD and PhD degrees from Harvard Medical School/MIT.

She continues to see patients at Stanford as an adjunct clinical professor in the Division of Primary Care and Population Health.

Vineeta serves on a number of portfolio company boards, including BigHat Biosciences, GC Therapeutics, Memora Health, Thyme Care, Pearl Health, and Waymark.

Parag studied BTech in Computer Science and Engineering at IIT Bombay and completed his PhD from Stanford University.

They have a son named Ansh and the couple is based in San Francisco, California.

Meanwhile, there are doubts over Parags future once Musk takes over, as the Tesla CEO himself can become a temporary CEO of the platform. According to reports, Musk may have also lined up a new Twitter CEO.

Parag is likely to receive nearly $39 million due to a clause in his contract once he leaves Twitter. His total compensation for 2021 was $30.4 million, largely in stocks.

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

Posted: May 15, 2022 at 2:23 am

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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