Monthly Archives: August 2021

What Is the Most Important Scientific Development of the Last 50 Years? – Gizmodo

Posted: August 31, 2021 at 2:04 am

Illustration: Benjamin Currie/Gizmodo

There are people who argue, persuasively, that Hollywood films are worse than they used to be. Or that novels have turned inward, away from the form-breaking gestures of decades past. In fact, almost anything can be slotted into a narrative of declinethe planet, most obviously, but also (per our former president) toilets and refrigerators. One of the few arenas immune to this criticism is science: I doubt there are very many people nostalgic for the days before the theory of relativity or the invention of penicillin. Over the centuries, science has just kept racking up the wins. But which of these winslimiting ourselves to the last half-centurymattered most? What is the most important scientific development of the last 50 years? For this weeks Giz Asks, we reached out to a number of experts to find out.

Research Assistant, Social Sciences, Humboldt University of Berlin

A bit more than 50 years ago, but I would say the most influential were the related developments of the Journal Impact Factor and the Science Citation Index (precursor of todays Web of Science) by Eugene Garfield and Irving H. Sher between 1955 and 1961.

These developments laid the groundwork for current regimes of governance and evaluation in academia. Their influence on the structure of science as we know it can hardly be overestimated: Today, it is difficult to imagine any funding, hiring, or publication decision that does not draw in some way either directly on the JIF or data from the Web of Science, or at least on some other form of quantitative assessment and/or large-scale literature database. Additionally, the way we engage with academic literature and hence how we learn about and build on research results has also fundamentally been shaped by those databases.

As such, they influence which other scientific developments were made possible in the last 50 years. Some groundbreaking discoveries might have only been possible under this regime of evaluation of the JIF and the SCI, because those projects might not have been funded under a different regimebut also, its possible that we missed out on some amazing developments because they did not (promise to) perform well in terms of quantitative assessment and were discarded early on. Current debates also highlight the perverse and negative effects of quantitative evaluation regimes that place such a premium on publications: goal displacement, gaming of metrics, and increased pressure to publish for early career researchers, to name just a few. So while those two developments are extremely influential, they are neither the only nor necessarily the best possible option for academic governance.

Professor, History of Science, Stanford University, whose research focuses on 20th century science, technology, and medicine

That would surely be the discovery and proof of global warming. Of course, pieces of that puzzle were figured out more than a century ago: John Tyndall in the 1850s, for example, showed that certain gases trap rays from the sun, keeping our atmosphere in the toasty zone. Svante Arrhenius in 1896 then showed that a hypothetical doubling of CO2, one of the main greenhouse gases, would cause a predictable amount of warmingwhich for him, in Sweden, was a good thing.

It wasnt until the late 1950s, however, that we had good measurements of the rate at which carbon was entering our air. A chemist by the name of Charles Keeling set up a monitoring station atop the Mauna Loa volcano in Hawaii, and soon thereafter noticed a steady annual increase of atmospheric CO2. Keelings first measurements showed 315 parts per million and growing, at about 1.3 parts per million per year. Edward Teller, father of the H-bomb, in 1959 warned oil elites about a future of melting ice caps and Manhattan under water, and in 1979 the secret sect of scientists known as the Jasons confirmed the severity of the warming we could expect. A global scientific consensus on the reality of warming was achieved in 1990, when the Intergovernmental Panel on Climate Change produced its first report.

Today we live with atmospheric CO2 in excess of 420 parts per million, a number that is still surging every year. Ice core and sea sediment studies have shown that we now have more carbon in our air than at any time in the last 4 million years: the last time CO2 was this high, most of Florida was underwater and 80-foot sharks with 8-inch teeth roamed the oceans.

Coincident with this proof of warming has been the recognition that the history of the earth is a history of upheaval. Weve learned that every few million years Africa rams up against Europe at the Straits of Gibraltar, causing the Mediterranean to desiccatewhich is why there are canyons under every river feeding that sea. We know that the bursting of great glacial lakes created the Scablands of eastern Washington State, but also the channel that now divides France from Great Britain. We know that the moon was formed when a Mars-sized planet crashed into the earth and that the dinosaurs were killed by an Everest-sized meteor that slammed into the Yucatan some 66 million years ago, pulverizing billions of tons of rock and strewing iridium all over the globe. All of these things have been only recently proven. Science-wise, we are living an era of neo-geocatastrophism.

Two things are different about our current climate crisis, however.

First is the fact that humans are driving the disaster. The burning of fossil fuels is a crime against all life on earth, or at least those parts we care most about. Pine bark beetles now overwinter without freezing, giving rise to yellowed trees of death. Coral reefs dissolve, as the oceans acidify. Biodisasters will multiply as storms rip ever harder, and climate fires burn hotter and for longer. Organisms large and small will migrate to escape the heat, with unknown consequences. The paradox is that all these maladies are entirely preventable: we cannot predict the next gamma-ray burst or solar storm, but we certainly know enough to fix the current climate crisis.

The second novelty is the killer, however. For unlike death-dealing asteroids or gamma rays, there is a cabal of conniving corporations laboring to ensure the continued burning of fossil fuels. Compliant governments are co-conspirators in this crime against the planetalong with think tanks like the American Petroleum Institute and a dozen-odd other bill-to-shill institutes. This makes the climate crisis different from most previous catastrophes or epidemics. It is as if the malaria mosquito had lobbyists in Congress, or Covid had an army of attorneys. Welcome to the Anthropocene, the Pyrocene, the Age of Agnotology!

So forget the past fifty years: the discovery of this slow boil from oil could well become the most important scientific discovery in all of human history. What else even comes close?

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Professor and Chair, History of Science, The University of Oklahoma

Id say the best candidate is the set of ideas and techniques associated with sequencing genes and mapping genomes.

As with most revolutionary developments in science, the genetic sequencing and mapping revolution wasnt launched by a singular discovery; rather, a cluster of new ideas, tools, and techniques, all related to manipulating and mapping genetic material, emerged around the same time. These new ideas, tools, and techniques supported each other, enabling a cascade of continuing invention and discovery, laying the groundwork for feats such as the mapping of the human genome and the development of the CRISPR technique for genetic manipulation. Probably the most important of these foundational developments were those associated with recombinant DNA (which allow one to experiment with specific fragments of DNA), with PCR (the polymerase chain reaction, used to duplicate sections of DNA precisely, and in quantity), and with gene sequencing (used to determine the sequences of base pairs in a section of DNA, and thus to identify genes and locate them relative to one another). While each of these depended upon earlier ideas and techniques, they all took marked steps forward in the 1970s, laying the foundation for rapid growth in the ability to manipulate genetic material and to map genes within the larger genomes of individual organisms. The Human Genome Project, which officially ran from 1990-2003, invested enormous resources into this enterprise, spurring startling growth in the speed and accuracy of gene sequencing.

The ramifications of this cluster of developments, both intellectual and practical, have been enormous. One the practical side, the use of DNA evidence in criminal investigation (or in exonerating the wrongly convicted), is now routine, and the potential for precise, real-time genomic identification (and surveillance) is being realized at a startling pace. While gene therapies are still in their infancy, the potential they offer is tantalizing, and genomic medicine is growing rapidly. Pharmaceutical companies now request DNA samples from individual experimental subjects in clinical trials in order to correlate drug efficacy with aspects of their genomes. And, perhaps most important of all, the public health aspects of gene sequencing and mapping are stunning: the genome of the SARS-2 Coronavirus that causes Covid-19 was sequenced by the end of February 2020, within weeks of the realization that it could pose a serious public health threat, and whole-genome analysis of virus samples from around the world, over time, have enabled public health experts to map its spread and the emergence of variants in ways that would have been unthinkable even a decade ago. The unique aspects of the virus that make it so infectious were identified with startling speed, and work on an entirely new mode of vaccine development began, leading to the development, testing, and mass production of a new class of vaccines (mRNA vaccines) of remarkable efficacy, in unbelievably short timeless than a year from identification of the virus to approval and wide use. It is hard to overstate how amazing this novel form of vaccine development has been, and how large its potential is for future vaccines.

On the intellectual/cultural side, the collection of techniques for manipulating and mapping genetic material is challenging longstanding ideas about what is natural and about what makes us human. Organic, living things now can be plausibly described as technologies, and thats an unsettling thing. Aspects of our individual biological identities that once were givens are increasingly becoming choices, with implications we are just beginning to see. In addition, these same techniques are being deployed to reconstruct our understanding of evolutionary history, including our own evolution and dispersal across the globe, and perhaps nothing is more significant than changing how we understand ourselves and our history.

Professor, Science and Technology Studies, University College London, who researches the history of modern science and technology

My answer would be PCRPolymerase Chain Reaction. Invented by Kary Mullis at the Cetus Corporation in California in 1985, its as important to modern genetics and molecular biology as the triode and the transistor to modern electronics. Indeed it has the same role: its an amplifier. DNA can be multiplied. Its a DNA photocopier. Without it, especially once automated, much modern genetics would be extremely time-consuming, laborious handcraft, insanely expensive, and many of its applications would not be feasible. It enables sequencing and genetic fingerprinting, and we have it to thank for COVID tests and vaccine development. Plus, you can turn it into a fantastic song by adapting the lyrics to Sleaford Mods TCR. Singalong now: P! C! R! Polymerase! Chain! Reaction!

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Dr. Scott on the Incorporation of GARD-Based Radiotherapy Dosing in Oncology – OncLive

Posted: August 31, 2021 at 2:02 am

Jacob G. Scott, MD, DPhil, discusses the incorporation of genomic-adjusted radiation dosebased radiotherapy dosing in oncology.

Jacob G. Scott, MD, DPhil, associate staff, Departments of Translational Hematology and Oncology Research and Radiation Oncology, Cleveland Clinic, clinical assistant professor, Department of Molecular Medicine, adjunct assistant professor, Department of Physics, Case Western Reserve University School of Medicine, member, Development Therapeutics Program, Case Comprehensive Cancer Center, Case Western Reserve University, discusses the incorporation of genomic-adjusted radiation dose (GARD)based radiotherapy dosing in oncology.

Although it can be difficult to define levels of evidence in biomarker studies based on archival tissue specimens, GARD-based radiotherapy dosing is backed by level 1 evidence and is potentially ready for use in clinical practice, Scott says. However, incorporating a clinical decision support tool will require some relearning of practice standards, which have always been based on empirical evidence from dose-escalation trials, Scott explains.

The tool, which is similar to an oncotype assay, supports the idea that quantifying the biological effect of radiotherapy with GARD is associated with time to first recurrence and overall survival for patients with cancer who undergo radiation treatment. Moreover, GARD-based dosing is predictive of benefit with radiation therapy, Scott concludes.

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Delta is the major variant in the Western Province – J’pura University report – Newsfirst.lk

Posted: August 31, 2021 at 2:02 am

COLOMBO (News 1st): Four mutations of COVID-19 Delta Variant were found in Western Province, researchers at the University of Sri Jayawardenapura said.

University of Sri Jayawardenapura researchers including Prof. Neelika Malavige, Dr. Chandima Jeewandara from the Allergy, Immunology and Cell Biology Unit of the Department of Immunology Molecular and Molecular Medicine released a report confirming the discovery of Delta variant with four mutations within the Western Province itself.

The report states that out of the four mutations, 2 mutations (A701S, R24C) are found only in Sri Lanka and one mutation (A1078S) was present only in Malaysia and Sri Lanka, while the other mutation (A222V) is the common delta variant present in many other countries.

Out of the 94 samples for the research, the areas Colombo (CMC and various areas, Hanwella, Kaduwela), Nuwaraeliya (Bogawantalawa, Dikoya, Lindula), Embilipitiya, Matara (Dickwella, ), Gampaha (Ganemulla, Makola, Ragama, Weyangoda), Kegalle, Point Pedro, Puliyakulam and Vaviniya have been identified as Delta variant infected areas.

Moreover, only 3 samples of the alpha variant [B.1.1.7 (alpha)] have been identified from Anuradhapura, Bohawantalaka and Kandawalai.

Accordingly, the major variant spreading in the Colombo District, the Delta variant, has spread to other Districts of the country as well.

The researchers observed that the frequency of the mutated delta appears to increase over the time, suggesting that it could be more transmissible than the original Delta (delta without these 4 mutations). However more data is required for the researchers to conclude.

While the vast majority of viruses have been sequenced in the Colombo district, sequencing has been carried out from many areas from all over Sri Lanka.

USJ researchers found Four mutant Covid Delta variants with two new Sri Lankan mutations (A701S, R24C) USJ University of Sri Jayewardenepura, Sri Lanka (sjp.ac.lk)

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NIH launches study of extra COVID-19 vaccine dose in people with autoimmune disease – National Institutes of Health

Posted: August 31, 2021 at 2:02 am

News Release

Friday, August 27, 2021

Trial also will test pausing immunosuppressive medication to improve antibody response.

The National Institutes of Health has begun a clinical trial to assess the antibody response to an extra dose of an authorized or approved COVID-19 vaccine in people with autoimmune disease who did not respond to an original COVID-19 vaccine regimen. The trial also will investigate whether pausing immunosuppressive therapy for autoimmune disease improves the antibody response to an extra dose of a COVID-19 vaccine in this population. The Phase 2 trial is sponsored and funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of NIH, and is being conducted by the NIAID-funded Autoimmunity Centers of Excellence.

Many people who have an autoimmune disease that requires immunosuppressive therapy have had a poor immune response to the authorized and approved COVID-19 vaccines, placing these individuals at high risk for the disease, said NIAID Director Anthony S. Fauci, M.D. We are determined to find ways to elicit a protective immune response to the vaccines in this population. This new study is an important step in that direction.

An estimated 8% of Americans have an autoimmune disease, including a disproportionate number of people in the minority communities most severely impacted by COVID-19. Researchers have reported higher rates of severe COVID-19 and death in people with autoimmune disease than in the general population. It is unclear whether this is attributable to the autoimmune disease, the immunosuppressive medications taken to treat it, or both.

The results of recent studies indicate that giving an extra dose of an authorized COVID-19 vaccine to solid organ transplant recipients, who must take immunosuppressive medications, can improve the immune response to the vaccine in many of these individuals. A NIAID study is underway to investigate this further. The recent findings in solid organ transplant recipients also suggest that an extra dose of a COVID-19 vaccine may help some people with autoimmune disease who take certain immunosuppressive medications. The Food and Drug Administration recently amended the emergency use authorizations for the Pfizer-BioNTech and Moderna COVID-19 vaccines to allow the administration of an additional dose to solid organ transplant recipients and other people who have an equivalent level of immunocompromise.

The new NIAID trial, called COVID19 Booster Vaccine in Autoimmune Disease NonResponders, initially will include people with one of five autoimmune diseases: multiple sclerosis, pemphigus, rheumatoid arthritis, systemic lupus erythematosus or systemic sclerosis. The immunosuppressive therapies commonly taken by people with these diseases have been associated with poor immune responses to vaccines.

The study team will enroll approximately 600 participants ages 18 years and older at 15 to 20 sites nationwide. Participants must have had a negative or suboptimal antibody response to two doses of the Moderna COVID-19 vaccine, two doses of the Pfizer-BioNTech COVID-19 vaccine, or one dose of the Johnson & Johnson COVID-19 vaccine, all received prior to enrollment. Participants also must be taking one of three immunosuppressive therapies: mycophenolate mofetil (MMF) or mycophenolic acid (MPA); methotrexate (MTX); or B cell- depleting drugs.

All participants will receive an extra dose of the same COVID-19 vaccine as they received originally. Then those participants who are taking MMF/MPA or MTX will be assigned at random either to continue taking their immunosuppressive medication without alteration or to pause taking their medication for a short period before and after receiving the extra vaccine dose. The main goal of the study is to determine the proportion of participants who have a significantly better antibody response four weeks after receiving the extra vaccine dose than they did after their original vaccinations.

Study participants will be followed for a total of 13 months. Preliminary results are expected in November 2021.

The COVID19 Booster Vaccine in Autoimmune Disease NonResponders trial is being led by Judith James, M.D., Ph.D., Meggan Mackay, M.D., M.S., Dinesh Khanna, M.B.B.S., M.Sc., and Amit Bar-Or, M.D., F.R.C.P.C. Dr. James is vice president of clinical affairs and program chair of the Arthritis & Clinical Immunology research program at the Oklahoma Medical Research Foundation in Oklahoma City. Dr. Mackay is a professor in the Institute of Molecular Medicine at the Feinstein Institutes for Medical Research in Manhasset, New York. Dr. Khanna is the Frederick G.L. Huetwell professor of rheumatology and the director of the scleroderma program in the department of internal medicine at University of Michigan in Ann Arbor. Dr. Bar-Or is the director of the Center for Neuroinflammation and Neurotherapeutics, chief of the multiple sclerosis division, and the Melissa and Paul Anderson President's Distinguished Professor at the University of Pennsylvania in Philadelphia.

Additional information about the COVID19 Booster Vaccine in Autoimmune Disease NonResponders trial, including the locations of study sites, is available in ClinicalTrials.gov under study identifier NCT05000216.

NIAID conducts and supports researchat NIH, throughout the United States, and worldwideto study the causes of infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing, and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID website.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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Largest Study of Long COVID Points to an Alarming Prognosis – BioSpace

Posted: August 31, 2021 at 2:02 am

The body of real-world evidencearound COVID-19 continues to build, and a study released Thursday in The Lancet points to concerning long-term effects for hospital survivors at the one-year mark.

The study, which was led by Dr. Bin Cao from the China-Japan Friendship Hospital in Beijing, is a head-to-head comparison of 1,276 people discharged from Jin Yin-Tan Hospital in Wuhan between January and May 2020 and comparable Wuhan residents who were not infected with COVID-19. In what is the largest paper of its kind yet to be published, the former patients were assessed at both six and 12 months following the onset of their first symptoms.

Common long-term effects suffered by COVID-19 survivors include fatigue, muscle weakness, sleep disturbances, changes in taste and smell, dizziness, headache and shortness of breath. At the six-month mark, 68% of participants reported at least one persistent symptom, which fell to 49% after one year. In all, the former patients self-reported experiencing a lower quality of life than their counterparts, and the most common maladies were fatigue and muscle weakness.

Reflective of the enigma that is COVID-19, the number of patients reporting breathing problems actually increased between the six and 12-month check-ins from 26% to 30%, while the percentage of people who felt anxious or depressed rose from 23% at six months to 30% at one year. Both mental and physical health challenges were especially prevalent among those who had experienced the most serious disease.

That people would still be in a rehabilitation period after 12 months is outside of the norm for David Putrino, director of rehabilitation innovation at Mount Sinai Health Systems in New York. Putrino told TIME that this is not an example of a glass-half-full story.

After most hospital stays, including for, say, walking pneumonia, I would not be expecting people at 12 months to still be reporting symptoms to me, said Putrino, who oversees the networks Long COVID rehabilitation program.

According to Putrino, being fortunate enough to escape hospitalization may not guarantee a full immediate recovery.

This virus doesnt end once you get discharged from the hospital or once you get over the initial acute symptoms, he said, referencing smaller studies showing that symptoms may linger in around 20% of these patients.

These studies could spell bad news for a lot of survivors. According to a collection of four international studies published in late July, there are more than 200 possible Long COVID symptoms. In one paper, researchers assessed responses from 3,762 patients from 56 countries with either confirmed or suspected COVID-19 and found an average of 56 reported symptoms across 9 different organ systems. More than 91% of these patients required at least 35 weeks to recover. The most commonly reported symptoms after six months were fatigue, post-exertional malaise, and cognitive disfunction.

It appears that even vaccination is not a complete get out of jail free card in every case when it comes to preventing Long COVID. In an Israeli study of 1,497 vaccinated health care workers, 39 became infected regardless, and 7 of those individuals experienced symptoms that lasted at least six weeks.

"We had hoped that when you get vaccinated and even if you did have a breakthrough infection you would have enough of an immune response that would block this protracted symptom complex now known as long COVID, said Dr. Eric Topol, a professor of molecular medicine at Scripps Research. This study is the really first to give us an indicator that there's some long-haulers among that small group of people that had breakthrough infections.

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Genome Medical Announces Acquisition of GeneMatters and Closing of $60 Million Series C Financing – Business Wire

Posted: August 31, 2021 at 2:02 am

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genome Medical, the leading nationwide genomic care delivery company, today announced that it will acquire GeneMatters, a telehealth genetic counseling and software solutions company. Simultaneously, the company announced the closing of a $60 million Series C financing to accelerate commercial traction and advance its mission of transforming health care for all through genomic medicine. These strategic initiatives solidify its position as the preeminent technology-enabled provider of genetic health services and genomic insights.

The addition of GeneMatters, along with our Series C financing, propels us into the next phase of commercial growth and enables us to realize the genome-driven personalization of health, said Lisa Alderson, co-founder and CEO of Genome Medical. The genomic medicine industry is primed with testing capabilities and novel therapeutics; now is clearly the moment for Genome Medical to deliver expanded availability of genomic medicine for patients and providers.

Genome Medical will use the financing proceeds to expand its team and further enhance the development of its configurable technology solutions to provide innovative and efficient genomic medicine programs. The company will continue to build out its full suite of physician services, test ordering capabilities and guidelines-based care plans to ensure comprehensive, seamless care for patients.

The Series C round was led by Casdin Capital, a committed and leading long-term investor in life sciences and genomics, and was joined by new investors GV (formerly Google Ventures) and Amgen Ventures. Existing investors also participated, including Perceptive Advisors, Canaan Partners, Kaiser Permanente Ventures, Illumina Ventures, LRVHealth, Echo Health Ventures, Revelation Partners, HealthInvest Equity Partners, Avestria Ventures, Flywheel Ventures, Dreamers Fund and Blue Ivy Ventures.

In connection with the financing, the Genome Medical Board of Directors will be joined by Eli Casdin, founder and chief investment officer at Casdin Capital; Shaun Rodriguez, director of life science research at Casdin Capital; and Jill Davies, co-founder and president of GeneMatters. Anthony Philippakis, M.D., Ph.D., venture partner at GV, will join the board as an observer.

We feel fortunate to have been in the unique position to facilitate this strategic combination of two strong genomic health providers and Casdin portfolio companies, Eli Casdin said. We have been an early and active investor in the development of genetic testing capabilities broadly. The breadth and scale of Genome Medical and GeneMatters together produce the clear leader in digital health for genomics. It is also a terrific example of how one + one can equal more than two!

Together, Genome Medical and GeneMatters represent expanded technology solutions and clinical expertise to better meet the growing need for genomic medicine across health and wellness. GeneMatters will operate as a wholly owned subsidiary of Genome Medical Holding Company, with a focus on expanding the delivery of genetic services to community health systems and other partners.

The mission of GeneMatters from day one has been to increase patient access to genetic services and to support patient decision-making, said GeneMatters Davies. Joining the Genome Medical family allows for expanded capabilities, broader reach and ultimately more patients and providers being served. We are thrilled to be joining forces with this talented team that shares our mission, vision and passion for patient care.

By combining innovative, technology-enabled solutions with the virtual delivery of industry-leading clinical expertise, Genome Medical is accelerating the adoption of genetic services and genomic medicine for health care systems, large-scale research studies, health plans, employers, providers and molecular diagnostic testing laboratories. Learn more about Genome Medicals comprehensive services, including its Genome Care DeliveryTM platform and precision insights for population genomics.

About Genome Medical

Genome Medical, the leading genomic care delivery company, is personalizing health care for all through on-demand access to genetic insights and genomic medicine. We operate as an independent virtual medical practice, powered by a digital health technology platform. By partnering with health systems, providers, health plans, employers, labs and biopharma, we expand the reach and impact of precision medicine. We provide clinical assessments and tools, test recommendations and ordering, and personalized care plans to deliver optimal patient care and improve health outcomes. The company, which is headquartered in South San Francisco, was recently honored as The Best Digital Health Company to Work For by Rock Health, Fenwick & West and Goldman Sachs in their Top 50 in Digital Health awards. To learn more, visit genomemedical.com and follow @GenomeMed.

About GeneMatters

GeneMatters is a leading provider of telehealth genetic counseling and software solutions to increase access to genetic services. We deliver customizable solutions to hospitals, health networks, genetic testing labs and biopharmaceutical organizations to extend the capacity of existing genetic counseling teams, support new programs and increase patient engagement with genetic services. Our genetic expertise spans oncology, reproductive, cardiovascular and rare diseases. Founded in 2016 by Jill Davies, a genetic counselor, with a mission to increase patient access, we are committed to outstanding service delivery, unwavering quality standards, high patient satisfaction and technology to simplify care. To learn more, visit gene-matters.com and follow @GeneMatters on Twitter Linkedin

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Rowan University hosts National Science Foundation research program for undergrads – Rowan Today

Posted: August 31, 2021 at 1:59 am

When Brady Moore, a biomedical engineering senior, first began his journey into the scientific world as a high school student, he could not have predicted the path he would take over the next four years. His biology teacher recommended a summer research internship at Rowan University that he eagerly pursued. He chose to attend Rowan as a freshman the following year.

This summer, Moore took part in another hands-on program directed by Rowans Department of Biomedical Engineering, called Research Experience for Undergraduates (REU). The 10-week program hosted 12 undergraduate students from eight states: Michigan, Minnesota, New Jersey, New York, North Carolina, Oklahoma, Pennsylvania, and Texas. The National Science Foundation (NSF) funded 10 of the fellows and Rowan funded two more through its Division of University Research.

The NSF supports research sites that represent specific areas of interest with a focus on developing leaders in the field and igniting their passion for discovery, innovation and research, according to Dr. Mary Staehle, associate professor of biomedical engineering in the Henry M. Rowan College of Engineering. Rowans site focuses on biomedical materials, devices, therapeutics and emerging frontiers, and includes faculty mentors in these areas from engineering, science and medicine.

Students work full-time in a lab with a faculty mentor, graduate students and post-doctoral fellows to complete meaningful, impactful research throughout the summer, explained Staehle, who directs the REU program along with Dr. Mark Byrne, professor and founding head of the Department of Biomedical Engineering.

The program provides extensive research opportunities that students may not have at their home institutions and broadens opportunities for scientists, Staehle said.

Rowans REU program first began in 2018. Its return following the COVID-19 pandemic was a welcome sign of normalcy.

It is really great to have students on campus, Staehle said. This program provides an opportunity to learn firsthand about being a graduate student and how to pursue a career in science or engineering research.

This summer, Moore returned to the lab of Dr. Peter Galie, associate professor of biomedical engineering, studying cell cultures with a focus on strokes and aneurysms. Moore plans to do more hands-on lab work before applying to medical school.

Everyone in the lab was welcoming and friendly and showed me when I needed to know something. I really appreciate all the help, Moore said.

Brady worked in my lab as a high school student, so things came full circle this summer, Galie said. It was great seeing his growth, both as a young adult and as a biomedical engineer, thanks to the training hes received during his three years here.

Alexis Pacheco Benitez, a Rowan junior, also credited the faculty and students for enriching his research experience.

The people there really brought life to the lab and made me look forward to being there in the lab every day, said Pacheco Benitez, who spent the summer exploring 3D cellular remodeling. I will also remember the trips I and the other REU fellow students went to throughout the entire program.

Tochukwu Iyke-Nzeocha, a sophomore from the University of Rochester, worked in the Department of Chemistry and Biochemistry. One experience she found beneficial during the program was a Women in Chemistry event.

From the presentation, I saw that I could strive in the entrepreneurial world. Before I was considering medical school, but now I have narrowed down my options, she said.

Sky Fuller, a Columbia University junior, commuted from the Glassboro campus to the Joint Health Sciences Center in Camden to work in the field of synthetic biology.

Our primary focus is redesigning receptors and synthetic circuits of immune cells to fight cancer. I had a minimal background in synthetic biology when I arrived at the start of these 10 weeks, so I learned a lot about this field, Fuller said.

Mulan Tang, a junior from the University of Oklahoma, recounted a story about adding stem cells to cross-linked fibers.

It was a bit late in the day, at around 8 p.m., but it was extremely exciting to look through the confocal microscope and see that the attachment was successful, Tang said. I felt like I really did make a lot of research progress during my time at Rowan.

These programs are vital to fostering that excitement and creating the next leaders in the field, said Byrne. Exposing these young engineers and scientists to top research and having them contribute in a real and meaningful way during the summer and beyond is the spark that leads to meaningful careers in the field. Rowan is the ideal place for these types of programs.

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Link between broiler genetics, gut health and immune response becomes clearer in University of Maryland study – The Poultry Site

Posted: August 31, 2021 at 1:59 am

USPOULTRY and the USPOULTRY Foundation announce the completion of a funded research project at the University of Maryland in College Park, Maryland, in which researchers identified the contribution of broiler genetics on gut health and immune response when challenged with Salmonella Typhimurium.

The research was made possible in part by an endowing Foundation gift from Ingram Farms and is part of the Associations comprehensive research program encompassing all phases of poultry and egg production and processing. A summary of the completed project is as follows.

(Dr Shawna Weimer, Department of Animal and Avian Sciences, University of Maryland, College Park, Maryland)

Dr Shawna Weimer and colleagues at the University of Maryland recently completed a research project that evaluated the differences in immune response, gut morphology and microbiome, and behavior of fast- and slow-growing broiler chickens challenged with Salmonella typhimurium.

The results showed that Salmonella did induce a small variety of responses, including impaired intestinal morphology in fast-growing birds at 24 days and elevated IgA concentrations at 21 days in the slow-growing birds. The fast-growing birds were heavier, had greater jejunum gut integrity, and greater concentrations of immunoglobulins IgA and IgG in blood plasma by 24 days.

Slow-growing birds had greater IgG concentrations at 7 days and their gut integrity was more resilient to challenge by 24 days. Behaviorally, fast-growing broilers were less exploratory, social and aggressive than slow growing. Birds from both breeds and challenge treatments sat more and stood less on days 16 and 20 after challenge, which the researchers hypothesize could have been due to the stress of subjection to oral gavage.

The results of this study indicate that meaningful genotypic and phenotypic differences exist between fast- and slow-growing broiler body weight, immune response, gut morphology and microbial communities, and behavior when challenged with Salmonella typhimurium. Delineating the differences in basal and Salmonella-challenged phenotypes of broilers with divergent growth rates provides useful information for genetic, nutritional and management decisions.

Overall findings showed that breed had a much stronger effect than Salmonella challenge, indicating that meaningful genotypic and phenotypic differences exist between fast- and slow-growing broiler body weight, immune response, gut morphology and microbial communities, and behavior when challenged with Salmonella typhimurium.

The research summary can be found on the USPOULTRY website.

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Link between broiler genetics, gut health and immune response becomes clearer in University of Maryland study - The Poultry Site

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Collective Efforts to Increase Diversity, Equity, and Inclusion in the Genetics Department Make Steady Progress – Yale School of Medicine

Posted: August 31, 2021 at 1:58 am

Every two weeks, members of the Yale Genetics Diversity Advisory Committee (DAC) come together to discuss ways to address equity and inclusion across all underrepresented memberships within the department. These discussions are centered around four major areas: i) understanding the challenges that members of our community from underrepresented backgrounds face, ii) scrutinizing and formalizing a more equitable approach to hiring, iii) educating members of the community at all career stages and job functions in how to eliminate current exclusionary practices, and iv) investing in the support and retention of underrepresented minorities within the department. The committee operates within a network of Yale-wide diversity, equity, and inclusion (DEI) efforts led by Deputy Dean and Chief Diversity Officer Dr. Darin Latimore together with Associate Dean of Diversity and Inclusion & Associate Chief Diversity Officer Rochelle Smith, both from the Yale School of Medicines Office of Diversity, Equity, and Inclusion.

DAC was formed in October 2020 and is led by the Vice Chair of Diversity in the department, Dr. Valentina Greco. The overarching goal of DAC is to provide a lens through which to scrutinize and improve all departmental practices to embrace, enrich, and support a greater diversity within the departmental membership. The committee members partner closely with departmental members and leadership to achieve this. DAC members also act as representatives for other community members at their professional level undergraduate, post-graduate, graduate students, post-doc, administrative staff and lab professionals, clinical staff, and junior and senior faculty updating their peers on DAC efforts and bringing forth the concerns of their circles to the committee. Committee members communicate regularly with each other through a Slack platform, educating themselves and supporting each other in this critical work. The committee members are individuals with diverse backgrounds and different lived experiences who must be brave, vulnerable, and open with each other as they discuss the resistance within and outside the community to implement cultural change.

One of the areas where DAC is currently focusing its efforts on is the departments hiring practices, closely collaborating with faculty members and departmental leadership to develop an approach that both attracts and enriches for diverse memberships. To this end, DAC has recently provided extensive review and feedback of departmental guidelines for the recruitment of new junior faculty. These guidelines span from the initial wording of the advertisement to procedures detailing best practices for scoring applications, conducting interviews, and advancing candidates at each stage of review. Once approved, the guidelines will help to ensure that diversity is embedded in every faculty search going forward as a core value of the department, and that proactive steps to promote diversity in faculty hiring are consistently taken, regardless of who is directing the search.

Just as important as diversifying the candidate pool is ensuring that the department can support and retain its diverse faculty members. On its own, recruiting diverse candidates will not fix problems of equity and inclusion in the department this would only perpetuate such problems by creating a false sense that the culture has become more inclusive and supportive simply through diverse recruitment efforts, instead of addressing the underlying barriers that have traditionally excluded diverse members in the first place. To provide an authentically supportive environment for vulnerable memberships within the department, DAC is helping to implement an infrastructure for everyday processes, ranging from mentoring to promotion criteria, that continually scrutinizes and improves itself to be equitable for everyone.

DAC meetings create intentional spaces for scrutiny and to brainstorm solutions. However, it is also important to note that efforts to address inequity have been underway in the department even before the formation of DAC. In 2019, Dr. Caroline Hendry, Scientific Director and Advisor to the Chair of Genetics, spearheaded the Program to Support and Retain Women Faculty in Genetics, partnering with long-time advocate of gender equity Dr. Valentina Greco, as well as senior women faculty in the department Dr. Lynn Cooley, Dr. Valerie Reinke, and Dr. Hui Zhang. The program was designed in consultation with Dr. David Berg, Clinical Professor of Psychiatry and an expert in organizational behavior and group and intergroup relations. The program takes a holistic approach to both support the professional advancement of women faculty in Genetics and to begin to break down the socio-cultural barriers that have impeded their advancement thus far. The Program to Support and Retain Women Faculty in Genetics has equipped me with tools to develop my managerial skills on a more personalized basis, says Dr. Kaelyn Sumigray, Assistant Professor of Genetics. She shares that the program provided a much-needed support system for developing my research program at a critical time in my career. The program spans four key areas: i) creating opportunities for women to become leaders, ii) scrutinizing and reassigning the distribution of burden and invisible labor in the department, iii) deconstructing gender stereotypes that limit career progression, and iv) establishing best practices for life-work integration. Importantly, the program includes men in the department insofar as they must be willing to take an active role in recognizing and addressing their privilege and role in perpetuating the structural, cultural and organizational barriers that have so far restricted womens careers in science from advancing on par with their male colleagues. Many aspects of the program can and are applied to other groups that are currently underrepresented in the department not just women in order to support and retain all vulnerable memberships.

More recently, the committee has expanded its efforts in training and educating the department on topics primarily at the intersection of race and genetics and issues of discrimination. The Equity Journal Club (EJC) was established by the departments trainees and staff in response to the social movement that came from the murder of George Floyd. It is another example of a diversity initiative that existed prior to DAC, and DAC is now working to expand the initiative and incorporate it into the more routine Research in Progress forum in the department as part of the departments ongoing educational mission. It is a sign of our commitment to learn and improve as a collective group," says Maria Benitez, a Genetics student and DAC representative. The DAC and EJC are in the midst of planning speaker events open to the Yale community to expand the conversation around the intersection of racism, genetic research, and health equity. DAC members also have a vision of putting together a library, compiling literature on anti-racism and systemic discrimination that anyone can access to educate themselves.

Dismantling structural bias and discrimination against people of diverse racial and ethnic groups, persons with disabilities, the LGBTQ+ community, people from low socioeconomic backgrounds, and other vulnerable memberships is a long-term project. It cannot be solved by one individual leader, but requires peers to unite as followers of a movement that collectively desires and is willing to make the effort for change. Dr. Greco emphasizes the need for each member in the Yale Genetics community to bring a dedicated and serious commitment to change ourselves in order to make space for others. The exceptionalism and individualism that academia is built on is antithetic to the notion that talent is widespread. Furthermore, consciously or unconsciously, we perpetuate with our actions the false belief that talent can only be found in the few memberships consistent with the appearances of those who currently hold the most power and privilege, Greco continues. DAC believes that this ideological disconnect is the biggest resistance that the department faces in moving forward with DEI initiatives. Members of the department must realize that talent is present in groups that have historically and continue to be only tolerated, suppressed, or entirely excluded at various levels on the academic ladder.

Yale Genetics DAC and members of DEI committees across Yale continue to reflect on privilege and take action to make the department and the institution a more equitable place. Though there is still so much to be done, with the ongoing activism of DAC members and the collaboration of the entire department, Yale Genetics is determined to build a more inclusive environment for all.

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Collective Efforts to Increase Diversity, Equity, and Inclusion in the Genetics Department Make Steady Progress - Yale School of Medicine

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Genetic Analyses Trace How Mutations Accumulate in Cells of the Human Body Over Time – GenomeWeb

Posted: August 31, 2021 at 1:58 am

NEW YORK A suite of new studies has examined how one cell develops into all the tissues of the human body by tracing and investigating the mutations they acquire over time.

As cells divide, they acquire mutations that are then passed on to their daughter cells. The resulting patterns of mutations can be used to trace back a cell's family tree, possibly all the way to the first cell. In four new studies appearing Wednesday in Nature, teams of researchers from across the world used this approach to study the earliest stages of human development as well as the later accumulation of somatic mutations, including ones linked to cancer.

"Exploring the human body via the mutations cells acquire as we age is as close as we can get to studying human biology in vivo," Luiza Moore, a researcher at the Wellcome Sanger Institute and first author of one of the studies, said in a statement. "Our life history can be found in the history of our cells, but these studies show that this history is more complex than we might have assumed."

Tracing these mutations back in time revealed differences in mutation rates very early in embryonic development. Researchers led by the Sanger Institute's Michael Stratton uncovered a pattern of mutations that indicated a high initial mutation rate that then fell in a study that combined laser capture microdissections with whole-genome sequencing of samples from three individuals. A team led by the Korea Advanced Institute of Science and Technology's Young Seok Ju similarly found a high mutational rate during the early stages of development that then declined, using a capture-recapture approach.

The Stratton-led team estimated that the first two cell divisions had mutation rates of 2.4 per cell per generation, which then fell to 0.7 per cell per generation. This dip, they said, is likely due to the activation of the zygotic genome that increases the ability to repair DNA.

These early cells also contributed unequally to the development of subsequent lineages, though the degree of asymmetry varied from person to person. Ju and his colleagues reported, for instance, that for one individual in their analysis, 112 early lineages split at a ratio of 6.5:1, rather than the expected 1:1.

Stratton and his colleagues, meanwhile, reported that one individual in their study had a 69:31 contribution of the initial daughter cells to subsequent lineages, while another had a 93:7 ratio based on bulk brain samples, but an 81:19 ratio based on colon samples.

This, they said, indicates that the lineage commitment of cells is not fixed. Ju and his colleagues likewise said their finding suggested a stochasticity of clonal segregation in humans, unlike the deterministic embryogenesis observed in C. elegans.

These analyses also shed light on the development of somatic mutations later in life. KAIST's Ju and his colleagues, for instance, found most mutations are specific to certain clones, while in a separate study, the Sanger's Moore and her colleagues, who examined the mutational landscape of 29 cell types from three individuals through sequencing, found mutationrates varied by cell type and were very low in spermatogonia.

Ju and his colleagues also reported that normal tissues harbored known mutational signatures, including UV-mediated DNA damage and endogenous clock-like mutagenesis. Similarly, Moore and her colleagues noted known mutational signatures within normal tissues. They found, for instance, the aging-related SBS1 and SBS5 mutational signatures to be the most common signatures across all cell types, while other signatures were more prominent in certain cell types but not others. The SBS88 signature, which is due to a strain of E. coli, for example, was present among colorectal and appendiceal crypts.

Chen Wu, an investigator at the Chinese Academy of Medical Sciences, and her colleagues also found the aging-related SBS1 and SBS5 mutational signatures to be common among normal tissues, based on their sequencing analysis of microbiopsies from five individuals. Other tissues, like the liver and lung, also harbored other mutational signature like SBS4, which is associated with tobacco smoking.

Some of the mutations present in normal somatic tissues are typically associated with cancer, Wu and her colleagues added. They found mutations in 32 cancer driver genes were widespread among their normal tissue samples, though varied by organ. For instance, driver mutations were present in 6.5 percent of pancreas parenchyma samples and in 73.8 percent of esophageal samples.

Additionally, many normal tissue samples harbored as many as three cancer driver mutations. This, Harvard Medical School's Kamila Naxerova noted in a related commentary in Nature, begins to blur the line between what is normal and what is cancer. "Indeed, if cells with three driver mutations can easily be found in a small tissue sample, cells with four or five drivers probably exist in that tissue as well without necessarily giving rise to cancer," she wrote. "These new insights invite us to reconsider how we genetically define cancer."

Overall, she added that "the four studies provide an impressive demonstration of the power of modern genetics to decode the cellular dynamics that unfold in our bodies over time."

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Genetic Analyses Trace How Mutations Accumulate in Cells of the Human Body Over Time - GenomeWeb

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