Category Archives: Human Genetics

By Catherine A. Sanderson, Amherst College Genes and Psychological Behavior

One of the newest methods used to examine questions in psychology is behavioral genetics. How are genes linked with psychological behaviors? From roughly 1960 to 1990, research in the genetics of behavior was based almost entirely on twin studies, adoption studies, and extended-family studies.

It focussed on questions such as how similar are identical twins when raised in different homes? Are adopted children more similar to their biological parents or adoptive parents? Do particular conditions, such as depression or Alzheimers disease, run in families?

These studies did provide some evidence that genes matter, but typically couldnt tell exactly how or why.

This article comes directly from content in the video series Introduction to Psychology. Watch it now, on Wondrium.

Interestingly, genetic factors predict how kind we are to other people, whom we vote for in elections, and how likely we are to get divorced. A 2018 study found that some people seem to be genetically predisposed to getting divorced. Adopted childrens rate of divorce was similar to that of their biological parents, even if they were separated from these parents very early in life. There was no correlation between adopted childrens likelihood of divorce and that of their adoptive parents.

Yet, this genetic predisposition is relatively limited in its impact. Genetic factors only predicted 13% of a persons likelihood of getting a divorce. So, this tells us that genes do play a role, but a relatively small role in predicting something like getting divorced.

Moreover, most complex behaviors are influenced by multiple genes, each gene interacting with other genes, and with environmental factors. Contrary to what was commonly touted back around 2000, its not as simple as finding the gene thats responsible for depression, or alcoholism, or your IQ, or whether you will get divorced.

Instead, its how genes and the environment interact that predicts behavior. For example, even among people with the same genetic predisposition to obesity,such as siblings, environmental factors may influence whether the gene that triggers obesity is turned on or off.

This finding helps explain why, even with identical twins, one twin may be obese and the other not.

This finding, that environmental factors can cause changes in gene expression, is known as epigenetics. Moreover, these environmental changes in gene expression can be passed on through generations. Heres a powerful example from women who were pregnant and near the World Trade Centers on the day of the 9/11 terrorist attacks.

Researchers measured these womens levels of cortisol, a hormone that helps the body respond effectively to stress, shortly after the attack, and about a year later tested symptoms of post-traumatic stress disorder, or PTSD. Women who developed PTSD in the year after the attack had abnormally low levels of initial cortisol compared to those who did not develop this disorder, perhaps exacerbating the longer-term harm of stress for these women.

But heres how epigenetics makes it even more interesting. The children who gestated inside women who developed PTSD also had abnormally low levels of cortisol, especially if their mothers were in the third trimester of pregnancy at the time of the 9/11 attack.

These babies were basically programmed in the womb to have a lower level of cortisol, as a result of their mothers traumatic experience, and that likely increased their risk of developing a stress disorder themselves.

These advances in genetics have also led to challenging legal questions, such as whether we should be able to use our genes to excuse bad or criminal behavior. In a 2009 murder trial, a defense attorney provided evidence to a jury that his client was not guilty of premeditated murder because he had the so-called warrior gene which has been shown to predispose people to aggressive behavior and difficulty controlling their impulses.

The jury agreed, convicting on charges of manslaughter instead of first- or second-degree murder. As one jury member noted, Some people without this would react totally different than he would. A bad gene is a bad gene.

Yes, genetic predisposition is relatively limited in its impact. For example, in a study it was found that genetic factors only predicted 13% of a persons likelihood of getting a divorce. So, genes do play a role, but a relatively small role in predicting something like getting divorced.

The finding that environmental factors can cause changes in gene expression is known as epigenetics. Interestingly, these environmental changes in gene expression can be passed on through generations.

Most complex behaviors are influenced by multiple genes, each gene interacting with other genes, and with environmental factors. So, it is how genes and the environment interact that predicts behavior. For example, even among people with the same genetic predisposition to obesity, environmental factors may influence whether the gene that triggers obesity is turned on or off.

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Psychology and Genetics: How Are They Connected? - The Great Courses Daily News

BySaralyn Cruickshank

Two Johns Hopkins faculty members have received the university's prestigious President's Frontier Award, which recognizes exceptional scholars who are on the cusp of transforming their respective fields.

In a surprise virtual presentation Monday, JHU President Ron Daniels presented the award to Alexis Battle, an associate professor in the Department of Biomedical Engineering, and Sarah Hrst, an associate professor in the Department of Earth and Planetary Sciences. Both researchers will receive $250,000 to pursue new lines of research, expand their laboratories, or support their lab members.

"Let me take this moment to say how dazzled we were, Alexis and Sarah, by the ambitions and scope of your research and how highly your colleagues, mentors, and students regard each of you," said Daniels in the virtual presentation. "Having a way to honor those qualities in our faculty was a reason why we created this amazing award eight years ago. You both join a cadre of truly remarkable people from across all our divisions whose work truly stands apart."

The President's Frontier Award was originally launched with a commitment of $2.5 million from trustee Louis J. Forster, A&S '82, SAIS '83, and is now paired with a $1 million donation from alumnus David Smilow, A&S '84. Winners have spanned the university's divisions and included molecular biologist Andrew Holland (2021), mathematician Emily Riehl (2020), astrophysicist Brice Mnard (2019), nephrologist and epidemiologist Deidra Crews (2018), composer Michael Hersch (2017), molecular biologist Scott Bailey (2016), and stem cell research Sharon Gerecht (2015).

The award typically recognizes one winner and one finalist each year, but Battle and Hrst were both selected this year based on the strength of their applications and the demonstrated impact and continued potential of their work.

"The two of you embody in some sense the incredible breadth of research that goes on at JHU," said Ed Schlesinger, dean of the Whiting School of Engineering. "From the very smallest genetic materials that define what life is all about to the planets, space, the cosmos, and the search for life beyond our own worldthere is something particularly poetic about the juxtaposition of both of [your work]."

During the presentation, both Battle and Hrst discussed the transformative impact the award would have on their research teams.

"Last night and today, I was thinking, What do I really want to do if I get this award? And I was really laying out some of the exciting things that I'm hoping will happen over the next few years," Battle said. "So that makes me even more excited now, to know those things are going to be possible. I'm so thrilled, and I'm thrilled to see my students thrive even more."

Image caption: Alexis Battle

Image credit: Will Kirk / Johns Hopkins University

Battle is an internationally recognized leader in the field of biomedical engineering whose work has vital implications in the fields of human genetics, computational genomics, and precision medicine. Her research focuses on how genetic variation between individuals leads to changes in gene expression, and how these changes then lead to disease risk and progression. Using machine learning and probabilistic modeling, Battle and her lab create computational models capable of interpreting vast sets of genomics and health data to identify variations in gene expression and follow trends in disease progression caused by these changes in DNA. She has pioneered the use of time-series data to understand the impact of genetic variation at critical time points relevant to disease development.

Her breakthrough computational system, Watershed, holds great promise in the field of personalized genomics. Watershed's advanced modeling system combines personal genetic data and diverse cellular measurements to improve predictions of which genetic sequence differences found in a specific individual will affect that person's health. Applying this system across ancestries, families, and new data types has the potential to improve the diagnosis and treatment of rare diseases.

"There is increasing need for creative computational methods in genomics," wrote Michael Miller, director of the Department of Biomedical Engineering, in a letter nominating Battle for the President's Frontier Award. "Seeing the full impact of genomic data on biological and medical research therefore relies on the type of creative and careful methods development Alexis does."

Battle was a senior leader on the GTEx Consortium Project, a massive multi-institution effort that collected and analyzed thousands of human tissue samples to better understand gene expression. With dozens of principal investigators on studies related to the project, Battle's lab played a central role and she served as a senior author on the project's flagship papers.

Educated at Stanford University, Battle received her BS in symbolics systems and her MS and PhD in computer science. She completed a postdoctoral research specialization in genetics at the Howard Hughes Medical Institute at Stanford. She joined the faculty at Johns Hopkins in 2014 after working as a staff software engineer and engineering manager at Google. She has previously won a Johns Hopkins Catalyst Award (2017), which recognizes early career researchers with a $75,000 grant for their research and creative endeavors, and a Johns Hopkins Discovery Award (2019), which provide grants to cross-divisional teams. She was named a 2016 Searle Scholar and received a 2019 Microsoft Investigator Fellowship. She currently mentors four postdoctoral fellows, one medical fellow, 11 PhD students, and serves as an adviser for three undergraduates in the Department of Biomedical Engineering.

Hrst, a planetary scientist, studies the composition and characteristics of aerosols in the atmospheres of early Earth and other planets. Using laboratory experiments, modeling, and remote sensing and in situ measurements of atmospheric chemistry, Hrst and her lab work to understand how small molecules transition to become aerosols and the resulting physical and chemical properties of those particles.

Image caption: Sarah Hrst

The work has implications for assessing the habitability of other planets and for the search for life beyond our solar system. Under the right conditions, adding energy to simple mixtures of common gases can produce much more complex molecules like amino acids, which form the building blocks of living organisms.

Essential to her work is her groundbreaking approach to laboratory science. Using a custom-built Planetary Haze Research laba one-of-its-kind experimental labHrst and her group simulate the chemical reactions that contribute to the formation of aerosols in planetary atmospheres. With this approach, she can experiment with a vast range of temperatures (90-800 degrees Kelvin, or -297-980 degrees Fahrenheit) and can use different energy sources to initiate chemical reactions across a variety of atmospheric gases and conditions. Her lab is the first in the world to be dedicated to studying photochemical haze production in exoplanet environments, and she has published research on Saturn, Saturn's moon Titan, and early Earth.

Hrst's work is directly relevant to important space missions, including two upcoming NASA missions: Dragonfly, which will investigate prebiotic organic chemistry and habitability on Saturn's largest moon, Titan; and DAVINCI+, which will probe the chemical composition of the atmosphere of Venus.

"Particularly impressive is her ingenuity and creativity in developing and leading a new scientific field essentially from scratch: extrasolar planet atmosphere laboratory studies," wrote Sabine Stanley, a Bloomberg Distinguished Professor and chair of the Department of Earth and Planetary Sciences, in a letter nominating Hrst for the award. "Her work has already had major impact on the global effort to observe and characterize exoplanet atmospheres."

She received the 2020 LAD Early Career Award from the American Astronomical Society's Laboratory Astrophysics Division and the prestigious 2020 James B. Macelwane Medal from the American Geophysical Union, widely considered the highest honor for early career scientists in the field of geological and planetary sciences. She received a Johns Hopkins Catalyst Award in 2017 and was a co-investigator on a Discovery Award led by Maya Gomes in 2020.

Hrst received two bachelor of science degreesone in planetary science and one in literaturefrom the California Institute of Technology. She received her PhD in planetary sciences from the University of Arizona, Tucson. She joined Johns Hopkins in 2014 and currently mentors three graduate students, two postdoctoral research fellows, and an associate research scientist.

Chris Celenza, dean of the Krieger School of Arts and Sciences, gave Hrst particular praise for her emphasis on mentorship and collegiality.

"I often think that we are at our best in the arts and sciences when we're reciprocally reinforcing conversations among faculty, postdocs, graduate students, and undergraduates," Celenza said during the award presentation. "I know in your lab, you've cultivated that very type of engagement, so I want to thank you, deeply, for all you have done for this wonderful Department of Earth and Planetary Sciences and for Johns Hopkins and for the Krieger School."

Hrst's dedication to her lab members was evident from the moment they "Zoom bombed" the meeting, joining in on the coordinated surprise. "When I saw the names popping up on the screen, all I could think was how much more great science the people who are already working with me are going to get to do," Hrst said through tears. "And that means the absolute world to me."

The rest is here:
Alexis Battle and Sarah Hrst receive President's Frontier Awards - The Hub at Johns Hopkins

In classifying all living organisms, scientists use taxonomy a naming system to group similar organisms. The largest groupings are called kingdoms. For example, humans, all animals, plants, fungi, and multicellular organisms are members of a kingdom called eukaryotes.

Eukaryotic cells all have one important commonality: they house their DNA in a nucleus. The nucleus of the cell is centrally located and membrane-bound.

Prokaryotes include bacteria and archaea, single-celled organisms whose DNA is loosely packed and surrounded by a cell membrane.

Viruses are even simpler. They comprise only DNA or RNA and solely have one protective protein coat, called a capsid, surrounding them.

What do these distinct organisms have to do with each other and evolution? Quite a bit, according to Oxford University evolutionary biologist and the new studys first author, Dr. Nicholas A. T. Irwin.

Viruses and eukaryotes depend on one another. The former use their host-derived genes for replication and cellular control, often encoding cellular-derived informational and operational genes, allowing viruses to adapt and survive.

Eukaryotes can incorporate viral DNA into their genomes. This new DNA, previously thought to be inactive, has now been found to provide new functionality to their eukaryote hosts.

Colleagues at the Department of Botany at the University of British Columbia in Vancouver, Canada, and the Department of Zoology at the University of Oxford, United Kingdom, collaborated with Dr. Irwin to reveal groundbreaking findings in gene movement between viruses and eukaryotes called horizontal gene transfer.

In the journal Nature Microbiology, Dr. Irwin and his colleagues explained how they used complex computational analyses to search for evidence of identical genes present in viruses and eukaryotes. After studying 201 eukaryotes and 108,842 viruses, the team identified distinct trends in viral-eukaryote gene transfer.

Using well-established computer analyses of the evolutionary development and diversification of species, called phylogenetics, the researchers could delineate how virus and eukaryote bidirectional gene transfers have driven species diversification.

Dr. Irwin explained to Medical News Today that the researchers used computational analyses to search for evidence of transferred genes in the genomes of around 200 eukaryotes and thousands of viruses, which covered the diversity of eukaryotic and viral species whose genomes had been sampled.

We were not only interested in identifying viral genes within eukaryotic genomes, but also detecting the presence of eukaryotic genes in viral genomes.

Medical News Today asked Dr. Irwin how they were able to arrive at such sweeping conclusions about genetic relatedness between eukaryotes and viruses. Dr. Irwin recounted:

One of the important factors that allowed us to conduct this analysis was the enormous amount of genomic data that has now become available from eukaryotes, viruses, and prokaryotes (including bacteria and archaea). These new resources have resulted from major DNA sequencing efforts trying to understand the diversity of genomes across the tree of life.

In addition to this, recent technological advances in high-throughput DNA sequencing and metagenomics, which is the sequencing and assembly of genomes from mixed communities of organisms, such as seawater samples, has accelerated the rate at which these data have become available.

Having a large diversity of high-quality genomic datasets was crucial, as it allowed us to infer which species were participating in these gene transfers, Dr. Irwin added.

The scientists found that both viruses and eukaryotes hijack each others DNA.

But, they found that eukaryotic genes transferred to viruses approximately twice as frequently as viral genes transferred to eukaryotes.

Dr. Irwin explained there might be a few reasons why viruses were the big winners in the gene competition. He noted that genes may frequently transfer from the virus to the eukaryote, but they might not stick around because of natural selection.

But, viruses may retain those genes they acquire from their hosts because they are beneficial to the virus. And, for a gene to persist, the organism must survive and propagate, a trait at which viruses are very skilled.

The researchers then applied all their knowledge of the genetics of these many eukaryotes and viruses and compared them to well-established evolutionary trees. In this way, they could approximate the timing of gene transfer events relative to when species diverged or speciated, which refers to becoming a new type of species. For Medical News Today, Dr. Irwin illustrated:

If we observed a viral gene in a human genome, we would predict that the gene was acquired after humans speciated from other primates. In contrast, if a viral gene was present in all animals, say from sponges to chimps, we would infer that gene to have been derived in the last common ancestor of animals.

Of course, there are different ways to interpret these patterns, but we base our interpretations on the assumption that gaining a gene through gene transfer is more difficult and unlikely than losing a transferred gene.

[D]r. Irwin described three separate incidents in evolution where viral genes are present and exemplify viral-influenced evolution:

Medical News Today asked Dr. Irwin what intrigued him most about his results. He mused,

The most interesting result of the study was being able to identify and visualize the patterns of gene transfer across the eukaryotic tree of life.

One of my main interests is understanding how cellular diversity and complexity have evolved, and I believe that this work has provided strong evidence that host-virus interactions have played an important part in generating the diversity of life that we see today.

I also think this study has interesting implications for how we view viruses. Similar to how the discovery and characterization of the microbiome changed our view of bacteria, I think that revealing the influence that viruses have had on the evolution of life could encourage more nuanced thoughts about the importance of viruses in nature.

Dr. Irwin

Regarding where this research might lead future scientific endeavors, principal author, Professor Patrick Keeling, added: A lot of progress in understanding [h]orizontal gene transfer (HGT) in eukaryotes has focused on the pattern of gene transfers on the tree of eukaryotes now we also have some insights into the process that led to that pattern and the likelihood that viruses are a major route for transfers.

It would be useful to take a few of the lineages where we see a lot of viral HGT and dig deeper, looking at more closely related hosts and viruses to see the process unfolding at different time scales.

And finally, Dr. Keeling noted, identifying which genes are selected for in viruses can tell you a lot about what process makes the virus more successful, and by extension how it uses its host cell.

This study, explaining HGT between eukaryotes and viruses, is the first of its kind to reveal how viruses may have allowed multiple eukaryotic species to diverge and evolve.

Read more here:
Evolution: Revealing the influence of viruses - Medical News Today

Four faculty members from the University of Pittsburgh have been named to the most recent class of American Association for the Advancement of Science (AAAS) fellows, one of the most distinct honors within the scientific community and a historic one as well, dating to 1874.

They are among 564 fellows announced Jan. 26, a group that results from a nominating and vetting process that includes a cadre of scientists, engineers and innovators recognized for achievements across disciplines ranging across research, teaching, administration, industry, government and communications.

The four fellows from Pitt are:

Kay Brummond, associate dean of faculty and a professor of chemistry in the Kenneth P. Dietrich School of Arts and Sciences, is a synthetic chemist known for her research and her role in promoting women into careers in the sciences. Her lab has made significant contributions in organic chemistry, particularly in modulating chemical reactivity. She is a champion for gender balance and diversity equity in the chemistry field evidenced by her establishing theUniversity of PittsburghSummer Undergraduate Research Fellowship program, which offers research opportunities to students from underrepresented groups majoring in chemistry, and serving as the executive director of the 45th National Organic Chemistry Symposium which had the most diverse speaker slate in the history of this meeting. In 2021, she earned the ACS Award for Encouraging Women into Careers in the Chemical Sciences.

When Sarah Gaffenfirst opened her laboratory in 1999, the number of peer-reviewed research papers about IL-17 a family of pro-inflammatory substances secreted by our immune cells could be counted on one hand. Nowacademic publications involving IL-17 number in the tens of thousands, and Gaffen and her colleagues in the past year added threekey articles to the list,cracking the code for how IL-17 activates a cascade of cellular signalsleading toinflammation in kidney disease and finding a pathway in the mouse model of multiple sclerosis.Their findings could ultimately lead to targeted medications for the growing number of people with autoimmune diseases. Gaffen is the Gerald P. Rodnan Endowed Professor in theDivision of Rheumatology and Clinical Immunologyat theUniversity of Pittsburgh School of Medicine.

Steven R. Little, internationally recognized for his research in pharmaceutics and biomimetic drug delivery systems, is a Distinguished Professor and the only University professor to receive the Chancellors Distinguished Teaching, Research and Public Service awards. Little, who also serves as the William Kepler Whiteford Endowed Professor and Department Chair of Chemical and Petroleum Engineering in Pitts Swanson School of Engineering as well as a faculty member in the McGowan Institute for Regenerative Medicine and bioengineering, immunology, ophthalmology and pharmaceutical sciences departments, has developed numerous new drug formulations including controlled drug release that mimics the bodys own mechanisms of healing and resolving inflammation. Unlike traditional medications that require large doses administered via ingestion, inoculation or intravenously, biomimetic treatments recruit a patients own cells to treat disease at the source. In particular, Littles research shows potential new applications for glaucoma, gum disease and even transplant organ rejection. In December, Little also was named to the 2021 fellow class of the National Academy of Inventors, the highest professional distinction accorded to academic inventors.

Jerry Vockley came to UPMC Children's Hospital of Pittsburgh in 2004 to lead the Division of Medical Genetics, now the Division of Genetics and Genomic Medicine. He also is a professor of pediatrics at the University of Pittsburgh School of Medicine, the Cleveland Family Endowed Professor in Pediatric Research in the med school and a professor of human genetics at the Graduate School of Public Health.Vockley directs an active research program on inherited disorders of energy and protein metabolism, focused on both understanding the genetic causes of these disorders and developing new treatments for them. His research has earned National Institutes of Health support continuously since the early 1990s. The diseases Vockley treats are all related to defective enzymes, special proteins in the body that carry out chemical reactions.

Chuck Finder

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4 Pitt faculty members named 2021 American Association for the Advancement of Science fellows - UPJ Athletics

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Dysregulated gene expression associated with inflammatory and translation pathways in activated monocytes from children with autism spectrum disorder...

In-depth Analysis and Data-driven Insights on the Impact of COVID-19 Included in this Global Precision Medicine Software Market Report. The precision medicine software market size was valued at USD 1,344.

New York, Jan. 26, 2022 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Precision Medicine Software Market - Global Outlook & Forecast 2022-2027" - https://www.reportlinker.com/p06223320/?utm_source=GNW 28 million in 2021 and is expected to reach USD 2,657.21 million by 2027, growing at a CAGR of 12.03% during the forecast period

Favorable government initiatives and the adoption of big data analytics and related software continue to drive precision medicine software industry growth. Precision medicine software is one of the fast-growing healthcare systems IT industry segments, driven predominantly by genomics, drug discovery & development, clinical research, and big data analytics. Start-ups are leveraging many software and machine learning algorithms to help solve major and complex problems such as reducing R&D activities timeline and billion dollars of expenditure during drug development processes.

The following factors are likely to contribute to the growth of the precision medicine software market

Technological Advancements for Improvement of Precision Medicine Delivery Increased Adoption of Cloud-Based Platform The emergence of Local & Regional Start-Ups Prevalence of Cancer, Genetic and Rare Diseases Increased Partnership Among Software and Pharmaceutical Companies

KEY HIGHLIGHTS

Blockchain technology, which works on shared ledgers and distributed networks, can ensure the data is secured and used ethically while prohibiting mishandling. Thus, blockchain technology has a huge scope in the precision medicine market. Start-ups and scaleups are developing research platforms and techniques to better understand the underlying causes of cancer. For instance, US-America start-up OncXerna creates an RNA expression biomarker panel that permits clinical researchers to develop algorithms for effective treatment using RNA signature derived from biomarker panels. AI leverages sophisticated computation and deep learning to overcome the obstacles involved in sizeable disparate data sets and generate insights to enable the system to learn and reason. Over the last few years, AI approaches have been used in neurodevelopmental disorders, specifically autism spectrum disorder, epileptic encephalopathy, intellectual disability, attention deficit hyperactivity disorder (ADHD), and rare genetic disorders.

PRECISION MEDICINE SOFTWARE MARKET SEGMENTS

The precision medicine software market is segmented based on-

Deployment Application End-user Geography

PRECISION MEDICINE SOFTWARE MARKET SEGMENTATION The on-cloud segment will witness an absolute growth of more than 100% in the forecast period. Cloud technology supports the industry with an agile and mountable provider engagement model. This provides better outcomes by pushing crucial information to clinicians while pulling vital, real-world insight back from key experts in the field. Precision oncology has the highest share in Precision medicine practices by application. Oncology is the leading and fastest-growing therapeutic area in the life sciences industry. New treatments are being established at a remarkable pace, with more than 1100 oncology therapeutics in clinical development in the US alone.

Market segmentation by Deployment

On-Premises Cloud

Market segmentation by Application

Precision Oncology Pharmacogenomics Rare Diseases Others

Market segmentation by End User

Healthcare Providers Research Labs Pharma & Biotech Companies

GEOGRAPHICAL OUTLOOK

North America: North America made remarkable progress post the Human Genome Project in genome sequencing and precision medicine. The region is actively engaged in developing and commercializing cell and gene therapies with ICT and genome sequencing. This will drive demand in the precision medicine software industry. Europe: The European Commission has been a driver for developing PM approaches to be readily implemented in healthcare practice. Its efforts started in 2010 with a series of workshops exploring different research areas that can contribute to developing precision medicine. APAC: The region will likely witness a dramatic rise and innovation in precision medicine. China has already begun to make significant progress in genomics research, announcing its precision medicine initiative in 2016 with an investment of around USD 9 billion by 2030.

Market segmentation by Geography

North Americao USo Canada Europeo Germanyo Franceo UKo Italyo Spain APACo Chinao Japano Indiao Australiao South Korea Latin Americao Brazilo Mexico Middle East & Africao Turkeyo Saudi Arabia

VENDOR LANDSCAPE

The key players in the precision medicine software market are Syapse, AccessDx Laboratory, Fabric Genomics, Foundation Medicine, Intel, and International Business Machines (IBM). Companies are resolving to inorganic growth approaches. AccessDx Holdings acquired 2bPrecise to create the industrys most advanced precision medicine enablement solution.

Key Vendors

AccessDx Laboratory Fabric Genomics Foundation Medicine Intel IBM Syapse

Other Prominent Vendors

GenomOncology Koninklijke Philips LifeOmic NantHealth PhenoTips PierianDx Qiagen Roper Technologies SOPHiA GENETICS Translational Software

KEY QUESTIONS ANSWERED:

1. What is the global precision medicine software market size and growth rate?2. What are the key factors supporting the growth of the global precision medicine software market?3. Who are the key players operating in the global precision medicine software market?4. What are the key trends in the precision medicine software market?5. Which segment will offer the opportunity for growth between 2021 and 2026?Read the full report: https://www.reportlinker.com/p06223320/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The precision medicine software market size was valued at USD 1,344.28 million in 2021 and is expected to reach USD 2,657.21 million by 2027 - Yahoo...

LAWRENCE Four University of Kansas faculty members on the Lawrence and Medical Center campuses are this years recipients of the Higuchi-KU Endowment Research Achievement Awards, the state higher education systems most prestigious recognition for scholarly excellence.

The annual awards are given in four categories of scholarly and creative achievement. This years honorees:

The four will be recognized at a ceremony this spring along with recipients of other major KU research awards.

This is the 40th annual presentation of the Higuchi awards, established in 1981 by Takeru Higuchi, a distinguished professor at KU from 1967 to 1983, and his wife, Aya. The awards recognize exceptional long-term research accomplishments by faculty at Kansas Board of Regents universities. Each honoree receives $10,000 for their ongoing research.

The awards are named for former leaders of KU Endowment who helped recruit Higuchi to KU.

More about this years winners:

Olin Petefish Award in Basic Sciences

John Kelly is a professor of ecology & evolutionary biology who has made contributions to the fields of evolutionary biology, genetics and botany. He is considered an international leader in evolutionary genetics research, exploring how organisms adapt to their environment. The impact of his research extends to agricultural selective breeding, understanding organismal adaption to climate change and human genetics. He also has been on the forefront of developing computational genome sequencing methods to address biological questions.

Kelly and his collaborators have received more than $6 million in external funding from the National Institutes of Health, the National Science Foundation and other institutions. He has published more than 100 peer-reviewed articles and served as secretary for the Society for the Study of Evolution. He earned his doctorate in ecology and evolution from the University of Chicago.

Balfour Jeffrey Award in Humanities & Social Sciences

Beth Bailey, Foundation Distinguished Professor and member of the Department of History, is an internationally renowned historian of the United States military, war and society, and the history of gender and sexuality. She is the founding director of KU's Center for Military, War, and Society Studies, which brings together scholars, military leaders, government officials and students to discuss issues relevant to the military, war and more.

In the past year, she has received an Andrew Carnegie Fellowship and was named one of 24 National Endowment for the Humanities Public Scholars for her research on race and the U.S. Army. She was elected to the Society of American Historians in 2017, and the secretary of the Army appointed her to the Department of the Armys Historical Advisory Committee.

Baileys vast publication record includes journal articles, book chapters and books on a variety of subjects, including the history of gender and sexuality, U.S. military history and social history. She holds a doctorate and masters degree in American history from the University of Chicago.

Irvin Youngberg Award in Applied Sciences

Steven Soper is a Foundation Distinguished Professor of chemistry, mechanical engineering and bioengineering as well as an adjust professor of cancer biology and member of The University of Kansas Cancer Center. A world leader in bioanalytical chemistry, he researches biological macromolecules including DNA, RNA and proteins to develop new tools for medical diagnostics and discovery.

Soper directs the NIH-funded and multi-institutional Center of BioModular Multi-Scale Systems for Precision Medicine based at KU. The center coalesces scientists, clinicians and biomedical engineers to design, manufacture and deliver biomedical tools for detecting and managing disease. For example, the center developed an at-home rapid COVID-19 test that is now going to market.

Soper has founded two companies, BioFluidica and Sunflower Genomics, to translate his research into commercial products. He received a doctorate in bioanalytical chemistry from KU.

Dolph Simons Award in Biomedical Sciences

Dr. Russell Swerdlow is a professor in the Department of Neurology at KU Medical Center, with secondary appointments in molecular & integrative physiology and biochemistry & molecular biology. Swerdlow directs KUs Alzheimer's Disease Research Center, and his contributions have helped make KU a world leader in Alzheimers care and research.

His work has defined a role for mitochondrial dysfunction in late-onset neurodegenerative diseases, including Alzheimers. He proposed a hypothesis for the cause of the disease, the sporadic Alzheimers disease mitochondrial cascade hypothesis, which has steadily gained traction for over a decade. His research also has identified potential therapeutics for the disease.

Swerdlow received his doctor of medicine from New York University.

The award funds are managed by KU Endowment, the independent, nonprofit organization serving as the official fundraising and fund-management organization for KU. Founded in 1891, KU Endowment was the first foundation of its kind at a U.S. public university.

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KU, KU Medical Center faculty named recipients of Higuchi-KU Endowment Research Achievement Awards | The University of Kansas - KU Today

January 25, 2022 The Alzheimers Foundation of America (AFA) will host a free virtual Alzheimers educational conference for Florida residents on Wednesday, February 16, from 10:00 a.m. to 12:45 p.m. EST to kick off its 2022 national Educating America Tour. The conference, which is free and open to everyone, will allow participants to learn from, and ask questions of, health and caregiving experts. To register, go to http://www.alzfdn.org/tour.

Knowledge is a useful and powerful tool that can help make any situation easier to navigate, especially something as challenging as caring for a loved one with Alzheimers disease, said Charles J. Fuschillo, Jr., AFAs President & CEO. Connecting families with useful, practical information and support that can help them now and be better prepared for the future is what this conference is all about. Whether Alzheimers is affecting your family, you are a caregiver or just want to learn more, you can participate in this free virtual conference from the comfort of your home or office.

Sessions and speakers during the AFA virtual conference will include:

There will also be a musical performance by Adele Jacobson, Certified Music Practitioner and President of Music in Medicine, Inc., a non-profit organization based in Citrus County.

For more information or to register, go to http://www.alzfdn.org/tour.Those who cannot participate in the virtual conference or have immediate questions about Alzheimers disease can connect with licensed social workers seven days a week through AFAs National Toll-Free Helpline by calling 866-232-8484 or web chatting at http://www.alzfdn.orgby clicking the blue and white chat icon in the right-hand corner of the page.The web chat feature is available in more than 90 languages.

About Alzheimers Foundation of America (AFA)

The Alzheimers Foundation of America is a non-profit organization whose mission is to provide support, services and education to individuals, families and caregivers affected by Alzheimers disease and related dementias nationwide and to fund research for better treatment and a cure. Its services include a National Toll-Free Helpline (866-232-8484) staffed by licensed social workers, the National Memory Screening Program, educational conferences and materials, and AFA Partners in Care dementia care training for healthcare professionals. For more information about AFA, call 866-232-8484, visit http://www.alzfdn.org, follow us on Twitter or connect with us on Facebook, Instagram or LinkedIn. AFA has earned Charity Navigators top 4-star rating for seven consecutive years.

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Floridians Invited to Free Virtual Alzheimer's Educational Conference on February 16 Sponsored by the Alzheimer's Foundation of America - Florida...

23ME-00610 targets CD200R1, an important regulator of T cells and myeloid cells

CD200R1 was identified as a promising immuno-oncology target through 23andMes proprietary genetic and health survey database

Company will host a virtual R&D Day event on January 18, 2022

SUNNYVALE, Calif., Jan. 06, 2022 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading consumer genetics and research company, today announced the first participant has been dosed in a Phase 1 clinical trial evaluating 23ME-00610 for the treatment of advanced solid tumors. 23ME-00610 is 23andMes first wholly-owned immuno-oncology (I/O) antibody to enter the clinic. The target for the new investigational antibody, CD200R1, was identified as a promising immuno-oncology target through 23andMes proprietary genetic and health survey database.

This is an important milestone for 23andMe in our mission to help people access, understand and benefit from the human genome, said Anne Wojcicki, CEO and co-founder, 23andMe. When we started our Therapeutics group, our goal was to find new medicines validated by human genetics for people with serious unmet medical needs. Thats why were excited to move 23ME-00610 into the clinic to potentially help people with cancer who are in need of new treatment options.

The Phase 1 clinical trial is designed to evaluate the safety, tolerability and pharmacokinetics of 23ME-00610 in patients with locally advanced or metastatic solid tumors whose disease has progressed after standard of care treatment. 23ME-00610 is part of 23andMes larger drug discovery program of targets validated by human genetics across a spectrum of disease areas, including oncology, immunology, respiratory, and cardiometabolic diseases.

Our approach to drug discovery is driven by human genetics, and we have an incredibly large database from which to select and advance genetically validated targets more efficiently, and with a potentially higher probability of success, than traditional drug discovery methods currently allow, said Kenneth Hillan, Head of Therapeutics at 23andMe. 23ME-00610 is an exciting example of how we are translating our data into investigational therapeutics.

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23andMe has approximately 12 million customers, approximately 80% of whom consent to participate in research. 23andMe scientists study aggregate, de-identified genetics of these participants, alongside more than 4 billion health survey answers. Using its large database of genetically linked health traits and machine learning applied to its proprietary I/O genetic signature, 23andMe is able to pinpoint areas of the genome that contain targets for cancer therapeutics based on human genetics, including the 23ME-00610 target.

23andMes Immuno-oncology genetic signatureUsing its genetic data, 23andMe can identify immune-related genes that are expected to have an impact on cancer biology. Specifically, germline genetics can reveal which of the immune-related genes harbor genetic variants that also alter an individual's predisposition for developing cancer. 23andMe has developed an analytical approach, termed the immuno-oncology (I/O) genetic signature, to identify evidence for genetic variants that increase immune function while decreasing cancer risk. Using this approach, 23andMe scientists discovered that three components of the CD200R1 pathway exhibit an I/O genetic signature, including the CD200R1 receptor, the CD200 ligand, and DOK2, a mediator of downstream signaling from CD200R1. Following this genetic insight, 23andMe subsequently generated data consistent with CD200R1s role in inhibiting anti-tumor responses in immune cells.

About CD200R1 and 23ME-00610The CD200CD200R1 axis is an immunological checkpoint that plays a pivotal role in maintenance of immune tolerance. CD200R1 is an inhibitory receptor expressed on T cells and myeloid cells while CD200, the ligand for CD200R1, is highly expressed on certain tumors. Binding of tumor associated CD200 to CD200R1 leads to immune suppression and decreased immune cell killing of cancer cells.

23ME-00610 is a high-affinity humanized monoclonal antibody that is designed to bind to the CD200R1 receptor and prevent the interaction of CD200 and CD200R1. Preclinical data indicate that this mechanism has the potential to reinvigorate tumor-exhausted T-cells and myeloid cells to restore their ability to kill cancer cells.

About the Phase 1 23ME-00610 StudyThe first-in-human, multi-center, open-label clinical trial will determine the safety and tolerability of 23ME-00610 in people with locally advanced or metastatic solid malignancies that have progressed after standard therapy. This study will also evaluate preliminary anticancer activity, and the pharmacokinetic and pharmacodynamic profile of 23ME-00610 to identify the optimal dose and schedule for further clinical studies. After the Phase I dose escalation phase is completed, 23andMe will seek to enroll people with specific tumor types to evaluate the potential for anticancer efficacy and changes in pharmacodynamic endpoints in the expansion phase.

Participants with ECOG performance status 0-1, and with histologically diagnosed locally advanced or metastatic solid malignancy that has progressed after standard therapy for the specific tumor type are eligible. Additionally, adolescents 12 years and older with histologically diagnosed locally advanced, or metastatic solid malignancy are eligible for enrolment in the expansion phase.

R&D Day Event InformationTo discuss 23ME-00610 and other developments from its Therapeutics group in more detail, the company will host a virtual R&D Day event from 8:00 a.m. to 11:30 am Pacific Time on Tuesday, January 18, 2022. The webcast event can be accessed on the day of the event at https://investors.23andme.com/news-events/events-presentations. A webcast replay will be available at the same address for a limited time within 24 hours after the event.

About 23andMe23andMe, headquartered in Sunnyvale, CA, is a leading consumer genetics and research company. Founded in 2006, the companys mission is to help people access, understand, and benefit from the human genome. 23andMe has pioneered direct access to genetic information as the only company with multiple FDA authorizations for genetic health risk reports. The company has created the worlds largest crowdsourced platform for genetic research, with ~ 80 percent of its customers electing to participate. The 23andMe research platform has generated more than 180 publications on the genetic underpinnings of a wide range of diseases, conditions, and traits. The platform also powers the 23andMe Therapeutics group, currently pursuing drug discovery programs rooted in human genetics across a spectrum of disease areas, including oncology, respiratory, and cardiovascular diseases, in addition to other therapeutic areas. More information is available at http://www.23andMe.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended. All statements, other than statements of historical fact, included or incorporated in this press release, including statements regarding 23andMes strategy, financial position, funding for continued operations, cash reserves, projected costs, plans and objectives of management, clinical trials and the potential outcomes and timing thereof, the identification and advancement of genetically validated targets, and the potential or success of any such genetically validated targets, are forward-looking statements. The words "believes," "anticipates," "estimates," "plans," "expects," "intends," "may," "could," "should," "potential," "likely," "projects," predicts, "continue," "will," schedule, and "would" or, in each case, their negative or other variations or comparable terminology, are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. These forward-looking statements are predictions based on 23andMes current expectations and projections about future events and various assumptions. 23andMe cannot guarantee that it will actually achieve the plans, intentions, or expectations disclosed in its forward-looking statements and you should not place undue reliance on 23andMes forward-looking statements. These forward-looking statements involve a number of risks, uncertainties (many of which are beyond the control of 23andMe), or other assumptions that may cause actual results or performance to differ materially from those expressed or implied by these forward-looking statements. The forward-looking statements contained herein are also subject to other risks and uncertainties that are described in 23andMes Quarterly Report on Form 10-Q for the quarter ended September 30, 2021 filed with the Securities and Exchange Commission (SEC) on November 10, 2021 and in the reports subsequently filed by 23andMe with the SEC. The statements made herein are made as of the date of this press release and, except as may be required by law, 23andMe undertakes no obligation to update them, whether as a result of new information, developments, or otherwise.

Contacts:Investor Relations: investors@23andMe.comMedia: press@23andMe.com

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23andMe Initiates Phase 1 Clinical Trial for First Wholly-Owned Immuno-oncology Antibody for Patients with Solid Tumors - Yahoo Finance

NEW YORK A Chinese-Italian research team has developed a new open-source genetic reporting tool for individuals who have obtained their own genomic data from consumer genomics providers.

Called Personal Access to Genome and Analysis of Natural Traits, or PAGEANT, the platform enables users to analyze and interpret their genomic data at no cost. Both SNP array and next-generation sequencing data can be analyzed using the new resource, which was described in a Nucleic Acids Research paper published last month.

The collaboration that produced PAGEANT evolved out of a relationship between scientists at the University of Camerino in Italy and the Peking University School of Public Health in Beijing. According to corresponding author Valerio Napolioni, a geneticist at the University of Camerino, he previously cooperated with Jie Huang's group at Peking University to produce a tool called PERHAPS that supports paired-end short reads-based haplotyping from next-generation sequencing data. PAGEANT is the result of several projects that are underway.

"We both studied human genomics and were interested in creating a free and reliable version of a genome interpretation tool, which is essential for science to be translated into health and knowledge," said Huang.

The argument that people holding their genomic data, acquired via ancestry and health and wellness providers such as Ancestry, 23andMe, MyHeritage, or Family Tree DNA, are not being well served is a central tenet of PAGEANT's creators. This is no small number. According to the paper, as of 2018, more than 25 million people worldwide had taken one of these consumer tests.

However, even though scientists have been churning out loci of interest via nearly infinite genome-wide association studies over the past decade and a half, the researchers maintain in the paper that insights gleaned from these studies have yet to sufficiently make it into public use.

"The public lack the means to avail such data for interpretation of their own genomes," the authors write in the new paper. Direct-to-consumer testing, meanwhile, is "under strict government regulation" and faces multiple challenges, such as concerns around psychological impact, lack of access to genetic counseling, and the lack of validity or utility of results.

There does exist an extensive menu of free academic third-party tools for generating similar results and which vary in scope and accessibility. The new paper identifies nearly 30 of such tools that have existed, although the list continues to fluctuate as new ones are deployed and older ones are deactivated. For instance, DNA.Land, a data upload site that provided free ancestry and trait reports and cousin matching, went offline in November. Other sites, such as Promethease, recently transitioned into a for-profit model and were not considered a direct competitor to PAGEANT. Interpretome, a somewhat similar tool, has also been deactivated.

In the paper, the researchers identified two tools in existence that were the most similar, Impute.me and openSNP. Impute.me was developed by Danish researchers at Sankt Hans Hospital in Roskilde in 2015. OpenSNP was developed by a German research team in 2011.

PAGEANT's makers benchmarked the new tool against Impute.me in the development process.

They also used genome data from the 1000 Genomes Project as well as GWAS summary statistical data from the COVID-19 Host Genetics Initiative. They were supported financially by the National Key Research and Development Program of China and the Peking University Research Initiation Fund, as well as Innova Package, a Fujian, China-based company, and somepersonal funds.

Huang said that PAGEANT is different from most tools out there, commercial or third party, because of its privacy and security features, as well as its ability for customization. "We value the confidentiality of human genome data," noted Huang. "Therefore, PAGEANT can be run locally without sending any data to a remote server," he said. In addition, each line of PAGEANT's source code is open, and its analysis tool can be refitted as new scientific papers are published.

"If a user feels that it is more accurate to predict his genetic risk for lung cancer based on a million genetic variants reported by a new paper, he could easily do that in PAGEANT," he said.

The ACGTU philosophy and 5Q design

PAGEANT is organized around five philosophies, according to the authors, which they summarize as ACGTU, the five letters for nucleic acids. A stands for academic quality and standards. C is for confidential data run locally. G refers to a generalizable architecture and algorithm. T is for the transparency of its source code, and U stands for user-centric, as users can add or move traits from a genetic report.

These five philosophies are combined with what the authors call PAGEANT's 5Q design. The 5 "Qs" are quality control of genetic data; qualitative assessment of genetic characteristics of absolute or high uncertainty; quantitative assessment of health risk susceptibility based on polygenic risk scores; querying of third-party variants databases such as ClinVAR and PharmGKB; and generating secure quick response codes for tagging individual genomes.

Huang called PAGEANT's ACGTU philosophy and 5Q design approach "revolutionary" and said the researchers hope their perspective and methods will "gradually be viewed as a standard by the DTC field."

Additional activities related to PAGEANT are in progress, Huang noted. The researchers have secured an undisclosed amount of funding from Peking University to establish PAGEANT.me, and they will continue to improve the platform. Huang stressed that since PAGEANT runs on a user's desktop, it does not collect data from users for use in other genetic studies, for example.

"We understand that a users genetic data is confidential and private, and we have no intention and it is none of our business to collect any data," said Huang. "We simply want to promote an academic [tool] that hopefully could be widely adopted."

A valuable addition

Cathryn Lewis, a professor of genetic epidemiology and statistics at King's College London, is familiar with third-party analysis tools and polygenic risk scores. She co-authored a review of such tools in the journal Genome Medicine last year. She has also collaborated with Lasse Folkersen, one of the developers of Impute.me, and this month published a tool for translating polygenic scores onto the absolute scale using summary statistics in the European Journal of Human Genetics.

When asked about PAGEANT, Lewis called the platform a "valuable addition to the open-source, open-access landscape." According to Lewis, the need for tools like PAGEANT, as well as Impute.me, "highlights a growing discontinuity in the provision of genetic data." While whole-genome sequencing for rare disorders is becoming ubiquitous, Lewis said that tests that link common variation to complex diseases are not yet widely available.

"This leaves people to seek information on their genetic susceptibility through direct-to-consumer providers, and then use independent software for polygenic scores," said Lewis.

Also, while tools like PAGEANT might provide accurate information to users, Lewis said that it is still unknown how people are interpreting their results, and if the reports of increased or decreased risk are leading to increased sharing of data with clinical providers or changes in lifestyle. She noted that a score in the 90th percentile might be alarming to a user, but one in 10 people will have a similar or higher risk score.

"In interpreting a polygenic score, knowing where our score lies relative to others is a core piece of information," said Lewis. Users should therefore know their relative risk compared to the population prevalence, as well as their absolute risk. "Accurate software is only the first piece of giving risk information, and it is essential to be paired with clear communication of how to interpret our results," Lewis said.

Sarah Nelson, a research scientist at the University of Washington's department of biostatistics, authored a review of third-party genetic interpretation tools in 2018 in the Journal of Genetic Counseling. She noted that there is "a lot of flux" in terms of available tools, as new ones appear and others are shuttered over time.

"Even though third-party tools aren't going away as a class of consumer products, there have been a lot of changes," said Nelson, noting that DNA.Land shut down in November, and that GEDmatch was acquired by Verogen, a forensics company, in December 2019.

"Tools come and go, they are more transient than DTC companies, though there is flux in that market as well," Nelson pointed out. She added that such volatility could be "worrisome" for users who choose to upload their data to such sites that collect anonymized raw data, an issue that PAGEANT has addressed by allowing users to run the analysis locally on their desktops.

"Even if this tool goes away in two years, it's not like they have thousands of raw data profiles sitting on a server somewhere," Nelson said.

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International Team Debuts New Platform for DIY Genetic Analysis and Interpretation - GenomeWeb