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Groundbreaking cancer research helps shed light on recently identified syndrome

Ayden Isaacs, 15, (middle) walks along the Mississippi River in St. Louis County with his mother, Jennifer Isaacs, and his father, Michael Isaacs. Ayden Isaacs was diagnosed with DNMT3A Overgrowth Syndrome in 2015 at Washington University School of Medicine in St. Louis. Children and young adults with the rare genetic disease may have physical and intellectual disabilities and an increased risk for blood cancers, including acute myeloid leukemia (AML). Aydens clinical samples have helped researchers learn more about his condition and AML.

In 2008, a team of scientists at Washington University School of Medicine in St. Louis became the first to decode the DNA of a patients cancer cells and trace the disease to its genetic roots. The patient, a woman in her 50s, suffered from acute myeloid leukemia (AML), an aggressive and often deadly cancer of the blood and bone marrow. The findings garnered the research team worldwide acclaim and paved the way for more personalized approaches for the treatment of cancer based on the clusters of mutations in patients tumors.

One of the most unusual mutations discovered in that patients AML cells was in the gene DNMT3A. The gene had never been linked to cancer, so the significance of the genes mutations was unknown. But it was a fascinating candidate gene to consider. DNMT3A was known to encode an enzyme that can methylate DNA at very specific places in the genome, a process that can change patterns of gene expression and that was known to be very important for normal development.

In the year that followed, the Washington University team sequenced the DNMT3A gene in 280 additional AML patients and found that it was indeed one of the most common initiating mutations for this disease and that mutations in one particular site, at the 882nd amino acid in the DNMT3A protein, was more common than all of the others. This hot spot for mutations suggested that something special was going on there, and further studies from the lab of Timothy J. Ley, MD, clarified what that something was. Ley, the universitys Lewis T. and Rosalind B. Apple Professor of Medicine and chief of the Section of Stem Cell Biology in the Division of Oncology, helped lead the first sequencing of the AML patients genome.

The mutations at amino acid 882 changed the way the protein normally interacted with itself to make a functional enzyme, and reduced the activity of the enzyme by about 80% essentially rendering it inactive. When Ley and his then-trainees David Russler-Germain, MD, PhD, and David Spencer, MD, PhD, looked at the DNA methylation patterns in AML samples with this mutation, they found a very distinct signature, with pinpoint areas of reduced DNA methylation at very specific regions of the genome in every patient who had the mutation.

This knowledge framed an essential chicken vs. egg question: Were these areas with reduced DNA methylation important for causing AML, or were they just a byproduct of cancer transformation? The only way to find out would be to get a sample of blood cells from a person with the same exact DNMT3A mutation but who did not have AML, to see whether the changes in DNA methylation were already there.

But there was no obvious way to find such a patient.

On a bright winter afternoon in 2015, serendipity graced the investigators and the families of a group of patients with a rare genetic syndrome that had been discovered the year before.

As Ley sat in his office mulling over the conundrum that was confounding the field, his phone rang.

The caller Shashikant Kulkarni, PhD, then-head of the Department of Pathology & Immunologys Cytogenetics and Molecular Pathology Laboratory bombarded Ley with a staccato of facts: A patient at St. Louis Childrens Hospital. A 9-year-old boy named Ayden, with a newly described genetic syndrome associated with a mutation in the DNMT3A gene but his blood counts were normal. And, Kulkarni noted, the boy and his parents had consented to donating his blood and tissue samples for research.

I couldnt believe it, Ley recalled.

Shortly after that conversation, Ley received a call from Marwan Shinawi, MD, a professor of pediatrics in the Department of Pediatrics Division of Genetics & Genomic Medicine. Shinawi had just diagnosed Ayden with DNMT3A Overgrowth Syndrome, also known as Tatton Brown Rahman Syndrome (TBRS), a syndrome first identified in 2014 by a pediatric geneticist in London, Kate Tatton-Brown. The condition can cause individuals to be taller than average, overweight and have a large head circumference and distinctive facial features. People with the disorder also may have intellectual disabilities, behavioral difficulties and decreased muscle tone.

In 2014, there were only 13 patients in the world with a known diagnosis of the syndrome.

Youre not going to believe this, Shinawi told Ley over the phone, but the patient has the R882H mutation that youve been studying, and his father works here in pathology.

It was truly incredible, Ley said. There were 13 known patients in the world who had this syndrome. None of them to date had the mutation at position 882 that was so strongly associated with AML. This created a remarkable opportunity to learn more about how DNMT3A mutations contributed to TBRS and how they initiated AML.

Leys prior research on the mutation and blood cancers also triggered concern for Ayden. I worried that Ayden and these other children might be at increased risk of leukemia, Ley said. I knew that it was essential to monitor Aydens health while determining whether there is an increased risk of leukemia for patients with this syndrome.

Thanks to Aydens contribution to scientific research as well as similar contributions from dozens of other families from around the world the Washington University Medical Campus is now a global beacon for patient care and research for TBRS. Now, the syndrome is known to affect about 250 children and young adults worldwide, according to the TBRS Community, a family-led rare-disease organization founded by Jill Kiernan. Her daughter, Aevary, was one of the first to be diagnosed with the syndrome, in 2014.

The nonprofit, which emphasizes advocacy, education and research, is collecting information from families in a clinical registry to study the genetics, development and health of children with DNMT3A Overgrowth Syndrome and of their families.

Dr. Ley has been amazing about talking directly to families whose children have DNMT3A variants, Kiernan said. He says, Well do what we can. Well coordinate with their team. Well tell them what we know and what we dont know. And he does. Its not only Dr. Ley, but everyone weve worked with at Washington University has a sincere interest in helping these children and their families.

The childrens blood and tissue samples continue to be studied in laboratories across the School of Medicine, from oncology and genomics to neuroscience and pediatrics. In conjunction with the studies of clinical samples, genetically modified mouse models are proving to be an important new tool for understanding how DNMT3A mutations work. Mouse and human genomes share common genes that typically function in the same way. Such similarities make mice ideal for simulating human disorders to study how a single mutation can cause all of the features of a complex disease like TBRS. Remarkably, when the amino acid 882 mutation is created in mouse germline cells that make eggs and sperm, the animals develop virtually all of the features of the human syndrome including the reductions in DNA methylation noted in the AML patients. They also have an increased likelihood of developing blood cancers, including AML. These findings were published last year in Nature Communications.

The key to understanding genetic conditions such as TBRS is having both clinical data and samples, as well as mouse models, explained the papers first author, Amanda M. Smith, PhD, a former researcher in Leys lab who led the development of the mouse model with the amino acid 882 mutation.

Harrison Gabel, PhD, an assistant professor in the Department of Neuroscience, has created additional DMNT3A mouse models and focused on how they affect brain function. Were looking at it from a molecular level, how genes get turned on and off, and how that affects development to drive the overgrowth, obesity and neurologic dysfunction that occur in the disorder, he said. The collaborative environment and resources at Washington University position us to attack this particular disorder from all sides. Dr. Ley and I are working side by side, studying the gene in blood cells and in the brain. Combining our efforts with Dr. Shinawi, who understands the clinical aspects of this disorder, and adding in the remarkable relationship with patients and their families, it all adds up to a powerful synergistic approach.

Gabel is a member of the TBRS Communitys scientific advisory committee, and Ley and Shinawi serve on the medical advisory board. This nonprofit recently secured a three-year, $600,000 grant from the Chan Zuckerberg Initiative. It is a total game changer for our little organization thats been fueled by parent volunteers, said Kerry Grens, the groups vice president and the Department of Neurosciences new marketing administrator. Her son Adrian was diagnosed with TBRS in 2019, when he was 3 years old.

Shortly after Adrian was born, Grens and her husband noticed their son was delayed on milestones such as holding up his head and sitting. He also had strabismus (crossed eyes) and a congenital heart defect. We saw a lot of doctors before we came to Washington University, underwent genetic sequencing and received an official diagnosis from Dr. Shinawi, Grens said. It can feel hopeless to have a child with an incurable rare disease, and volunteering with the organization gives me a chance to feel like Im making progress, making a difference. A lot still needs to be answered about this genetic mutation and the associated risks for other diseases such as leukemia.

Research led by Margaret Ferris, MD, PhD, an instructor of pediatrics at Washington University and an oncologist at St. Louis Childrens Hospital, recently confirmed the scientists initial concerns: Patients with TBRS are at an increased risk about 250 times more than the general population for blood cancers, including acute myeloid leukemia. The study was published in November in Blood, the journal of the American Society of Hematology.

This can be difficult news to tell the families, obviously, but its the truth, and they need the truth, said Ley, the studys senior author. Do we need to monitor these children for early signs of the development of leukemia? The answer is, clearly, yes, we do.

Aydens dad, Michael Isaacs, said the truth, no matter what it may be, gives him hope. Not knowing is the biggest burden, said Isaacs, director of informatics and of external affairs for the Department of Pathology & Immunology. Knowing, and having a diagnosis, help set expectations for what the future may look like, but most of all, it gives me hope. The research being done, the dedication of the parents, and the collaborations at Washington University all give me hope.

Washington University School of Medicines 1,700 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, and currently is No. 4 in research funding from the National Institutes of Health (NIH). Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Serendipity unites physicians, researchers, families to fight rare genetic disease in kids Washington University School of Medicine in St. Louis -...

PHOENIX, Ariz. March 22, 2022 Severe fatty liver disease is commonly associated with obesity, but according to a review of scientific literature conducted by researchers at Temple University and the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, there is a growing body of evidence suggesting that even normal weight individuals can contract this potentially life-threatening condition.

Why this occurs is poorly understood, though some of the suspected liver-disease risk-factors for lean individuals include diet, genetics, ethnicity, and even menopausal status for women, according to the scientific review published today in the journal Diabetology and Metabolic Syndrome.

Because fatty liver disease, in most cases, is a clinically silent condition, the absence of early signs and symptoms, coupled with normal laboratory and body measurements, blind clinicians to the presence of severe liver disease in normal weight individuals, said Johanna DiStefano, Ph.D., Professor in TGens Metabolic and Fibrotic Disease Program, and head of TGens Diabetes and Fibrotic Disease Unit.

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver condition in the U.S., and may affect an estimated 24% of the global population. The incidence of NAFLD is climbing worldwide, making it a significant health threat. Its most severe form can progress to a condition called nonalcoholic steatohepatitis (NASH), which is characterized by liver inflammation and oftentimes fibrosis, and can lead to cirrhosis, cancer of the liver, and death. All are difficult to diagnose and treat.

Surprise finding for lean patients

One study showed that between the time they were initially diagnosed and follow-up examinations lean individuals with NAFLD were at greater risk for developing severe liver disease than those with higher body mass index (BMI).

This unexpected finding suggests that lean individuals experience a faster rate of fibrosis progression compared to those with higher BMI, Dr. DiStefano said.

While obesity is the strongest independent risk factor for NAFLD, even in cases of severe obesity some individuals do not develop severe liver disease, suggesting there may be genetic factors at work; some genes that promote liver disease, and others that are protective against the condition.

For example, one study of more than 900 lean Japanese participants showed a doubling of NAFLD risk among those who carried the well-studied PNPLA3 gene.

Also, women are at high risk of developing NAFLD following the menopausal transition, likely due to hormone-related metabolic changes resulting from the loss of protective estrogens and other factors, the review said.

No consensus on NAFLD screening

There is no global consensus for how to screen for NAFLD due to the uncertain evidence supporting diagnostic tests, treatment options, cost-effectiveness and the potential long-term benefits of screening. And for lean individuals, guidelines for NAFLD are even less clear:

The development and distribution of consistent screening and risk assessment guidelines will be critical to ensure optimal clinical management for all NAFLD patients, the review said.

Assessing NAFLD risk among lean individuals may depend on greater awareness of menopausal status, genetic factors, ethnicity especially among those of Asian Indian and Hispanic ancestry alcohol consumption, and dietary factors, including added sugars, refined carbohydrates, saturated fat and cholesterol. A major question is whether NAFLD in lean individuals represents a distinct disease requiring specific management, as suggested by many researchers, or is it a type of classical obesity-associated NAFLD that will respond to the current approach of weight loss, and the control of insulin resistance, high blood pressure, and excessive fat in blood?

Much more work is needed not only to address risk factors but also to promote greater awareness among practitioners about the potential health risks associated with NAFLD among lean individuals, said Glenn S. Gerhard, M.D., Chair of the Department of Medical Genetics and Molecular Biochemistry at the Lewis Katz School of Medicine at Temple University.

Early detection, combined with the appropriate steps to mitigate NAFLD through lifestyle modifications and clinical interventions, may effectively prevent the progression to NASH in lean individuals, said Dr. DiStefano, adding that inclusion of lean individuals in NAFLD-related clinical trials is critical to reducing NAFLD in this patient group.

The review NAFLD in normal weight individuals was funded by grants from the National Institutes of Health (NIH).

# # #

About TGen, an affiliate of City of HopeTranslational Genomics Research Institute (TGen) is a Phoenix, Arizona-based nonprofit organization dedicated to conducting groundbreaking research with life-changing results. TGen is affiliated with City of Hope, a world-renowned independent research and treatment center for cancer, diabetes and other life-threatening diseases: CityofHope.org. This precision medicine affiliation enables both institutes to complement each other in research and patient care, with City of Hope providing a significant clinical setting to advance scientific discoveries made by TGen. TGen is focused on helping patients with neurological disorders, cancer, diabetes and infectious diseases through cutting-edge translational research (the process of rapidly moving research toward patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and complex rare diseases in adults and children.Working with collaborators in the scientific and medical communities worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: tgen.org. Follow TGen onFacebook,LinkedInandTwitter @TGen.

Media Contact:Steve YozwiakTGen Senior Science Writer602-343-8704syozwiak@tgen.org

Diabetology & Metabolic Syndrome

Literature review

People

NAFLD in normal weight individuals

24-Mar-2022

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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TGen-Temple review suggests even normal weight individuals are susceptible to severe fatty liver disease - EurekAlert

The Board of Regents approved the following items at its March 24 meeting:

For the 2022-23 academic year, classes at UM-Flint will begin Aug. 29 and end with spring commencement April 30. The calendar was approved March 24 by the Board of Regents. Both fall and winter terms have 69 days. The fall term will end Dec. 9, and the winter term will begin Jan. 4. There are no conflicts with religious holidays. The academic calendar was developed following the universitys well-established academic calendar guidelines.

Margaret C. Levenstein, professor of information, School of Information, effective Aug. 29, 2022.

Andrew Murphy, professor of political science, LSA, Aug. 29, 2022.

Tiffany J. Braley, Holtom-Garrett Family Professor of Neurology, Medical School, effective March 1, 2022, through Aug. 31, 2027.

Xiuli Chao, Ralph L. Disney Collegiate Professor of Industrial and Operations Engineering, College of Engineering, effective March 1, 2022, throughFeb. 28, 2027.

Pingsha Dong, Robert F. Beck Collegiate Professor of Engineering, College of Engineering, effective March 1, 2022, through Feb. 28, 2027.

Michael Flynn, Fawwaz T. Ulaby Collegiate Professor of Electrical and Computer Engineering, College of Engineering, effective March 1, 2022, through Feb. 28, 2027.

Paul G. Gauger, Norman Thompson, M.D. Professor of Surgery, Medical School, effective March 1, 2022, through Aug. 31, 2027.

Kelly L. Harms, Lewis and Lillian Becker Professor of Dermatology, Medical School, effective April 1, 2022, through Aug. 31, 2027.

*Sharon R. Kardia, Millicent W. Higgins Collegiate Professor of Epidemiology, School of Public Health, effective April 1, 2022, through March 31, 2027.

*Daniel J. Klionsky, Alexander G. Ruthven Professor of Life Sciences, Life Sciences Institute, effective July 1, 2022, through June 30, 2027.

Purnima Kumar, William K. and Mary Anne Najjar Professor of Dentistry, School of Dentistry, effective May 1, 2022, through April 30, 2027.

*Priscilla Lindsay, Claribel Baird Halstead Collegiate Professor, School of Music, Theatre & Dance, effective Sept. 1, 2022, through Aug. 31, 2025.

Joaquim R.R.A. Martins, Pauline M. Sherman Collegiate Professor ofAerospace Engineering, College of Engineering, effective March 1, 2022, through Feb. 28, 2027.

*Laurie K. McCauley, William K. and Mary Anne Najjar Professor of Periodontics, School of Dentistry, effective April 1, 2022, through March 31, 2027.

Robert J. ORourke, William J. Fry Professor of Surgery, Medical School, effective March 1, 2022, throughAug. 31, 2027.

Tuija I. Pulkkinen, George R. Carignan Collegiate Professor of Climate and Space Sciences and Engineering, College of Engineering, effective March 1, 2022, through Feb. 28, 2027.

Hom-Lay Wang, Collegiate Professor of Periodontics, School of Dentistry, for a five-year renewable term, effective April 1, 2022, through March 31, 2027.

Xueding Wang, Jonathan Rubin Collegiate Professor of Biomedical Engineering, Medical School, effective March 1, 2022, through Aug. 31, 2027.

Xian-Zhong Shawn Xu, Bernard W. Agranoff Collegiate Professor in the Life Sciences, Medical School, effective March 1, 2022, through Aug. 31, 2027.

*Marc A. Zimmerman, Marshall H. Becker Collegiate Professor of Public Health, School of Public Health, effective April 1, 2022, through March 31, 2027.

Robin A. Beck, acting director, Museum of Anthropological Archaeology, LSA, effective July 1, 2022, throughJune 30, 2023.

Eric R. Fearon, associate dean for cancer programs, Medical School, effective March 1, 2022.

Michael Galaty, director, Museum of Anthropological Archaeology, LSA, effective July 1, 2023, through June 30, 2026.

Pauline Jones Luong, Edie N. Goldenberg Endowed Director of the Michigan in Washington Program, LSA, effective Aug. 29, 2022, through Aug. 31, 2027.

Laurie K. McCauley, provost and executive vice president for academic affairs, Office of the Provost and Executive Vice President for Academic Affairs, effective May 16, 2022.

*Ravi Pendse, vice president for information technology and chief information officer, Office of the President, effective July 1, 2023, through June 30, 2028.

Jacob S. Klein, James B. and Grace J. Nelson Visiting Professor of Philosophy, Department of Philosophy, LSA, effective Aug. 29, 2022, through Dec. 31, 2022.

Nancy Savoca, John H. Mitchell Visiting Professor in Media Entertainment, Department of Film, Television, and Media, LSA, effective Aug. 29, 2022, through Dec. 31, 2022.

Isis H. Settles, transfer of tenure to professor of psychology, with tenure, professor of Afroamerican and African studies, without tenure, and professor of womens and gender studies, without tenure, LSA, effective Aug. 29, 2022.

*Reappointments

Kevin B. Atkins, assistant research scientist in the Department of Internal Medicine,Division of Nephrology, Medical School, May 2, 2022.Atkins received his B.A. in 1981 from Western Maryland College and his M.S. in 1984 from the University of Maryland. He received his Ph.D. in molecular, cellular and developmental biology from Iowa State University in 1991. Atkins joined the University of Michigan in 1991 as a research associate II and was promotedto senior research associate in 1999. In 2006, he was promoted to research laboratory specialistsenior. He joined the faculty ranks as a research investigator in 2010 and was promoted to assistant research scientist in 2014. Atkins scholarly interests focus on vascular smooth muscle physiology, specifically tounderstand the relationship between diabetes, kidney disease and hypertension and vascular dysfunction. His research also focuses on changes in vascular responsiveness in models of Type 1 diabetes andatherogenic kidney disease. Atkins has 25 peer-reviewed publications in high-impact journals. His work has led to several Department of Defense,National Institutes of Health and industry grants. Atkins is a member of the American Heart Association and a journal reviewer for the American Journal of Physiology: Heart and Circulatory Physiology.

Romana Capek-Habekovic, senior lecturer and lecturer IV in Italian in LSA, Dec. 30, 2014.Capek-Habekovic earned a B.A. in Italian with a minor in comparative literature in 1972 from the University of Zagreb. She received an M.A. in Italian literaturein 1978 from Wayne State University, and earned her Ph.D. in Italian literature in 1983 from the University of Michigan. Capek-Habekovic was appointed a lecturer at U-M in 1984. She was promoted to lecturer III in 1990 and lecturer IV in 2012. In 1997, she became director of the Elementary Language Italian Program after having been coordinator from 1990-96.Capek-Habekovic also served as the interim director of the Elementary Language French Program from 2012-14. Capek-Habekovic taught undergraduatecourses and graduate classes in Italian language and pedagogy, and in contemporary Italianliterature, particularly on Italian theater, Italian cuisine as a cultural practice, and Italian multimedia. She is the author of Tommaso Landolfis Grotesque Images, Insieme. Review Grammar and Reader for Second Year Italianand several other language books and manuals to teach the Italian language.

James H. Ellis, William Martel Collegiate Professor of Radiology, professor ofradiology, and professor of urology in the Medical School, April 30, 2022.Ellis received his B.S. in mathematics with honors in 1973 and his M.D. cum laude in 1978, both from the University of Michigan. He was a resident in diagnosticradiology from 1978-82 and assistant professor of radiology from 1982-84 at Indiana Universitys School of Medicine. Ellis joined U-M as an assistant professor in 1984, was promoted to associate professor in 1989 and to professor in 1996. He was chief of the radiology service at the affiliatedAnn Arbor Veterans Administration Medical Center from 1984-87, the first division director of the newly created abdomen division in the Department of Radiology at University Hospital from1987-92 and clinical director of the radiology department from 1992-98. He was the inauguralassociate chair for information technology in the radiology department from 1998-2017. He authored or co-authored 179 peer-reviewed publications. Ellis is a fellow of theAmerican College of Radiology, the Society of Uroradiology and the Society of Abdominal Radiology. He received the Gold Medal from the Society ofAbdominal Radiology in 2020.

Mark A. Helvie, Trygve O. Gabrielsen Collegiate Professor of Radiology andprofessor of radiology in the Medical School, March 25, 2022.Helvie received his B.S. from Duke University in 1976 and his M.D from the University of North Carolina at Chapel Hill in 1980. At the University of Michigan, he completed an internal medicine residency in 1983, a radiology residency in 1986 and a cross-sectional fellowship in 1987. He joined U-M as a lecturer in 1987, was promoted to assistant professor in 1988, to associate professor in 1994 and to professor in 2000. Helvies academic career was concentrated in breast radiology. At Michigan Medicine, Helvie was director of the Division of Breast Imaging from 1992-2018 and director of the Residency Training Program from 1989-92. Helvie received the OutstandingClinician Award and was inducted into the Michigan Medicine League of Clinical Excellence, and received the Gold Medal from the Society of Breast Imaging. He served in a leadership position at the National Comprehensive Cancer NetworkBreast Cancer Screening and Diagnosis Section, was an executive board member of the Society of Breast Imaging and held editorial positions at several journals.Helvie is a fellow of the American College of Radiology and the Society ofBreast Imaging.

Roland Kwok, associate professor of obstetrics and gynecology and associateprofessor of biological chemistry in the Medical School, April30, 2022.Kwok received his B.Sc. degree from Chu Hai College in Hong Kong in 1982, hisM.Sc. degree from the University of Saskatchewan in Canada in 1985 and his Ph.D. from the University of Pittsburgh in 1991. He received postdoctoral training at the Oregon Health Sciences University. He joined U-M as an assistant professor in 1998 and was promoted to associate professor in 2006.Kwoks research focused on how post-translational modifications, such asacetylation and phosphorylation, of factors involved in cell death pathways would determine cell death in cancer cells. He has more than 40 peer-reviewed publications, and his research helped reveal new targets for drugs in cancer treatment. His work was supported by the National Institutes of Health, the Leukemia and Lymphoma Society and the American Cancer Society. He also was a reviewer for various scientific journals and a research grant reviewer for the Department ofDefense for more than 15 years.Kwoks most recent service was a three-year term as a member of the Academic Performance Committee and the Advisory Board on Intercollegiate Athletics.

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Regents Roundup March 2022 | The University Record - The University Record

Jacques Robert Fresco, the Damon B. Pfeiffer Professor in the Life Sciences, Emeritus, died on Dec. 5 of complications from heart disease, surrounded by his family. He was 93.

Jacques Robert Fresco, professor of biology, emeritus

Photo by Denise Applewhite

Jacques was a pioneer in the biochemistry of nucleic acids, said Lynn Enquist, the Henry L. Hillman Professor of Molecular Biology, Emeritus. He has a remarkable history of training students and mentoring spectacular faculty.

He was a great mentor, a brilliant scientist and an amazing storyteller who has lived through and created so many of the important milestones of the scientific revolution in molecular biology, said Oguzhan Atay, a 2011 graduate who wrote his thesis with Fresco. Listening to him was listening to the history of science. He had so many amazing stories about Crick, Pauling, Oppenheimer, Delbruck and so on. If it were not for Jacques, we would not have had so many monumental contributions to science, either through his own work, such as the understanding of the mechanism of mutations and their connection to DNA structure, or through the students he mentored, a remarkable list that includes Nobel laureates and National Academy of Science members.

Tomas Lindahl, winner of the 2015 Nobel Prize in Chemistry, was a postdoctoral researcher in Frescos lab from 1964-67. He made impressive contributions to biology throughout his career, said Lindahl, an emeritus scientist at the Francis Crick Institute. Together with a brilliant student, Bruce Alberts, Fresco proposed the now generally accepted conformation of RNA.

He was a giant in the field of RNA structure indeed he created the field, said Edward Ziff, a 1969 Ph.D. graduate who is now a professor of biochemistry and molecular pharmacology at NYU Grossman School of Medicine. He was forthright, knew his own mind and left a great legacy by fostering the growth of the original Program in Biochemical Sciences of the 1960s into the rich and varied community of biologists that flourishes at Princeton today.

Fresco joined Princeton in 1960 and retired in 2013 a 53-year tenure that makes him one of the longest-serving members of the Universitys storied faculty. "When I was chair of the department, Jacques was a regular visitor to my office," Enquist said. "What I liked most was his regular deliveries of reprints of his early papers and the discussion of the good old days that followed."

He initially joined the Department of Chemistry, and he soon helped found the Program in Biochemical Sciences, which then grew into a department that he chaired from 1974 to 1980. The Department of Molecular Biology was created in 1984, and Fresco soon moved to that department. He continued to conduct full-time research long after his transfer to emeritus status, ultimately publishing more than 170 papers, abstracts and patents, many written with former students or fellows.

A remarkable thing about Jacques was his drive to keep doing science well into his 90s, said Stephen Buratowski, a professor of biological chemistry and molecular pharmacology at Harvard University who did his undergraduate thesis with Fresco in 1984. Every time I would speak or email with him, he absolutely had to tell me about some new idea or paper he was working on. He put off retirement for quite a long time, and even when he went emeritus, he just couldnt stop being an active scientist. His love for science will always inspire me.

Jacques Fresco, seen here with a 3-D model of the standard Watson-Crick DNA double helix, made seminal contributions to the understanding of RNA and DNA. He died surrounded by his family on Dec. 5, 2021, at the age of 93. Keenly aware of the importance of visualizing genetic structures as well as performing experiments, Frescodesignated a room within his lab for physical models like this one.The plastic atoms snapped together to build molecules in which each element -- oxygen, carbon, nitrogen and others -- had its own color.

Photo courtesy of the Fresco Family

I coauthored papers with Jacques in 1961 and in 2002! recalled Arthur Lesk, who followed Fresco from Harvard to Princeton. I wonder whether that is some kind of record.

Many of his students mentioned what an enormous role Fresco played in shaping their careers, in large and small ways. Jacques treated everybody with the same respect, irreverence and love of life, said Steven Broitman, a professor of biology at West Chester University in Pennsylvania who completed his Ph.D. with Fresco in 1988. In addition to all he taught me about science, he also modeled the simple enjoyment in doing science that I have always tried to keep with me and pass on to my own students. He was larger than life, a major figure in the birth of modern molecular biology. He was deeply loved, and he will be missed.

Jacques Fresco was a great man, said Juan Alvarez-Dominguez of the Class of 2009, one of Frescos last thesis students; he is now a professor at the University of Pennsylvania Perelman School of Medicine. His contributions to science and mentoring ushered in an enlightened era of passionate endeavor. His infectious enthusiasm and unwavering support birthed a cadre of trainees that have gone on to win a Nobel Prize, preside over the National Academy of Sciences, and further his legacy among the worlds most prestigious academic institutions.

The Guatamalan-born scientist added: Jacques not only spoke my mother tongue, Spanish, he spoke a 15th-century Judeo-Spanish called Ladino. His ancestors fled Spain then, and their language remained frozen in time through the generations. I will never forget how Jacques explained, in elegant Ladino, how his grandmother passed it on to him.

Ladino was Frescos first language. The son of Sephardic Jewish immigrants Robert Fresco of Istanbul and Lucie Asso Fresco of Edirne, Turkey, Jacques was born in New York in 1928, the first of three children. After skipping three grades, he graduated from Bronx High School of Science at age 16 in June 1944. He headed to New York University (living at home and attending classes on the Bronx campus) and completed his B.A. in biology and chemistry at age 18 in January 1947, followed by an M.S. in biology and then a Ph.D. in biochemistry in 1952, all from NYU. He did postdoctoral work at Sloan-Kettering Institute for Cancer Research, then worked as a research fellow at Harvard University.

Jacques spent his entire career working on the chemistry of nucleic acids (DNA and RNA), starting with his Ph.D. dissertation in 1952, said Buratowski. So when the famous Watson and Crick paper proposing a structure for DNA came out in 1953, he was perfectly positioned to ride the resulting wave of DNA mania. As a postdoc with Paul Doty in Watsons new department at Harvard, and then as a faculty member at Princeton, he was a leader in showing that DNA and RNA conformations go well beyond the canonical Watson-Crick base pairing of A-T and G-C within the double helix. Jacques studies of triple helices and alternative base-pairings were foundational for understanding how DNA mutations occur and how RNA-based enzymes (for example, ribosomes, RNAi, and CRISPR) can function.

His work in Dotys lab, performing the first experiments in thermal melting of DNA, RNA, and RNA:DNA hybrids using UV absorbance, would much later earn him a nomination (along with Julius Marmur and Paul Doty) for the Nobel Prize.

While at Harvard, Jacques mentored then-undergraduate Bruce Alberts, who taught at Princeton from 1966 to 1976, served as president of the National Academy of Sciences and wrote the seminal textbook, The Molecular Biology of the Cell.

In addition to reassuring Alberts parents that they shouldnt worry about their sons choice to pursue science instead of medical school a story Fresco enjoyed telling he also played a key role in bringing the young scientist to Princeton. Before I had even completed my Ph.D., he convinced Princeton to offer me an assistant professorship that I did not deserve, Alberts recalled. And at Princeton for 10 years, we of course spent an enormous amount of time together. So Jacques was very central to my life as a scientist and a close friend.

From Harvard, Fresco was invited by Francis Crick to Cambridge to tackle a problem that he solved in weeks instead of months, so he went on to Paris to research with Marianne Grunberg-Manago at the Institut de Biologie Physico-Chimique.

While walking the streets of Paris to cool down after an experiment got knocked over, he met his future wife Rosalie Burns, lost on the Place Saint-Michel with her parents. His offer to guide them through the streets of Paris led to a loving marriage of nearly 64 years that gave them three daughters and much happiness.

Frescos research included many fields within molecular biology and biochemistry, including gene repair for sickle cell anemia, fluorescent cytogenetic probes for genes that are amplified in cancers, and the evolution of the genetic code. He was one of the early leaders in the field of triple-stranded nucleic acid helices DNA oddities that can form under special conditions.

Shapeshifting polynucleotides were unraveled as much by his scientific rigor as by the sheer force of his creativity, Alvarez-Domingo said. Paving the way for fleshing out transfer RNA helped unlock how the code of life itself is translated. Widening DNA base pairing possibilities provided a chemical basis for the origin of substitution mutations. And discovering that DNA can self-mutate offered a mechanism for the evolution and potentiation of genetic diversity.

Fresco received the American Scientist Writing award in 1962; a Guggenheim fellowship to the Medical Research Council Laboratory of Molecular Biology in Cambridge, England, in 1969-70; a visiting professorship at the Hebrew University of Jerusalem in 1973; an endowed chair from Princeton, the Damon B. Pfeiffer Professor in the Life Sciences, in 1977; an honorary doctorate (M.D. honoris causa) from University of Gothenburg, Sweden, in 1979; and many other awards.

When he transferred to emeritus status in 2013, a colleague noted, One cannot pass by Jacques in the hall without him catching your eye, smiling and remarking with excitement about the new ideas that are coming from his laboratory.

His family describes him as a liberal thinker with a creative mind and a strong sense of tradition and obligation, outspoken and detail-oriented; a devoted family man and friend who promoted the careers of mentees in his lab and courses and maintained life-long close contacts with extended family, in-laws and friends; and a nurturing and dedicated tutor who strove to inspire his children and grandchildren. He was a humanitarian who spoke out against antisemitism and other forms of prejudice, a staunch defender of teaching evolution, a champion for animals and the less fortunate and joined in all of these by his beloved wife.

He is survived by his wife Rosalie Fresco, his daughter Lucille (Lulu) Fresco-Cohen and her husband Moshe Cohen, his daughter Suzette (Suzi) Fresco Johnson and her husband David Johnson, his daughter Linda Fresco and her husband Craig Comiter, as well as eight grandchildren Erik Johnson, Nicole Johnson of Princetons Class of 2012, Mikaela Johnson, Jacqueline Comiter, Golan Cohen, Galil Cohen, Laurel Comiter and Hayley Cohen and two great-grandchildren, Ben Johnson and Tommy Johnson, as well as cousins, nieces, and a nephew. Funeral services and burial were private at the Sephardic Jewish Brotherhood section of Cedar Park Cemetery.

You are invited to view and contribute comments on a memorial blog honoring Frescos life and legacy. In lieu of flowers, contributions in his memory may be made to the Southern Poverty Law Center, the World Jewish Congress, or Disabled American Veterans.

See the rest here:
Jacques Fresco, 'a major figure in the birth of modern molecular biology,' dies at 93 - Princeton University

A group of cancer researchers at the University of Rochester have now lost three papers over concerns about the data in the articles issues that evidently did not rise to the level of misconduct, according to the institution.

The work came from the lab of Yuhchyau Chen, of the universitys Wilmot Cancer Institute. A common co-author was Soo Ok Lee, who is no longer affiliated with the University of Rochester. In addition to the three retractions, Lee has several corrections and an expression of concern.

The most recent retraction involves a 2019 article in the Journal of Molecular Medicine titled Radiation-induced glucocorticoid receptor promotes CD44+prostate cancer stem cell growth through activation of SGK1-Wnt/-catenin signaling for which Chen and Lee were corresponding authors. The paper has been cited nine times, according to Clarivate Analytics Web of Science.

According to the retraction notice, dated December 10:

The Editor-in-Chief has retracted this Article because of several irregularities in figures. Specifically:Fig. 5f p-B-catenin lane which appears to be identical to Fig. 4a p-Stat3 lane [1]and Fig. 6a p-stat3 [2]; Fig. 5b the first GAPDH lane which appears to be identical to Fig. 3c cytostolic GAPDH lane [1]; Fig. 4e images for both GR IHC stains which appear to be identical to Fig. 5e IHC GR stains [3] An investigation by the University of Rochester Medical Center did not find any evidence of misconduct. However, owing to the number of errors the Editor-in-Chief no longer has confidence in the reliability of the work presented in the article. Soo Ok Lee, Peter Keng, and Yuhchyau Chen agree to this retraction. Feng Chen, Xiaodong Chen, Yu Ren, and Guobin Weng did not respond to correspondence from the Publisher about this retraction.

The two other retracted papers are Neuroendocrine differentiation contributes to radioresistance development and metastatic potential increase in non-small cell lung cancer and FASN-TGF-1-PD-L1 axis contributes to the development of resistance to NK cell cytotoxicity of cisplatin-resistant lung cancer cells, which were published in 2018 in Biochimica et Biophysica Acta (BBA) Molecular Cell Research and Biochimica et Biophysica Acta (BBA) Molecular and Cell Biology of Lipids, respectively and retracted earlier this year

Neither notice mentions the institutional investigation; however, all three retractions stemmed from the misconduct inquiry, a university official told us.

Chen did not respond to a request for comment. Our email to Lees university account bounced back.

Dirk Bohmann, the senior associate dean for basic research at the University of Rochester Medical Center, told us that the school conducted a misconduct inquiry, which ended in the summer of 2020, into 15 papers by Lee and Chen. Although Bohmann said he could not provide us a copy of the report, he told us the focus was:

primarily on falsification, which regulations define as manipulating research materials, equipment or processes, or changing or omitting data or results such that the research is not accurately represented in the research record. To determine whether research misconduct occurred as defined by the relevant regulations, the committee further investigated whether falsification was committed intentionally, knowingly, or recklessly or reflected a significant departure from accepted research practices in the field of radiation oncology.

After reviewing lab records and interviewing multiple faculty and staff members involved in the research, the committees investigation determined that a preponderance of evidence did not support a finding of research misconduct by Dr. Lee or Dr. Chen. A specific allegation that Dr. Lee falsified an experiment because she lacked access to a particular plasmid was determined conclusively to be false.

However, the investigation found many errors in published figures which Dr. Lee acknowledged, saying they resulted from a faulty data management system and multiple experiments being conducted in the same time frame. The committee determined that incorrect images appeared in 13 of the 15 articles investigated, which were published in 10 different journals between September 2015 and September 2019. Although the investigation did not prove misconduct, these revelations were disappointing and concerning to us. Whether the cause was intentional misconduct or poor laboratory practice, the fact that flawed information was entered into the scientific record by members of our University is incongruent with our standards as a research institution.

Bohmann added that in September 2020, shortly after the inquiry wrapped up, Mark Taubman, the universitys senior vice president for health sciences, notified the editors at the journals that had published the papers to notify them of the investigation and alerting them to the problematic images. The most recently retracted paper earned an editors note on September 17, 2020. Chen and Lee also contacted many of the same journals with requests for corrections, Bohmann noted:

He specifically recommended retraction of three articles based on the number and nature of errors they contained; in the other cases, the editors were invited to follow up with questions and take whatever action they deem appropriate. The recent Journal of Molecular Medicine retraction falls in the latter category.

Finally, Bohmann confirmed that Lee has left the university:

However, we are unable to discuss disciplinary actions relative to individuals or internal consequences relative to this laboratory following the investigation. Institutionally, we have strengthened training on ethics and misconduct prevention as part of our mandatory Responsible Conduct of Research (RCR) course, and expanded this content in our ongoing RCR training specific to different scientific disciplines.

One final note: Although the investigation was based on federal research definitions and requirements, I should be clear that all of the research in question was supported entirely by the University with no involvement of U.S. Public Health Services funds.

Like Retraction Watch? You can make aone-timetax-deductible contribution by PayPalorby Square, or amonthly tax-deductible donation by Paypalto support our work, follow uson Twitter, like uson Facebook, add us to yourRSS reader, or subscribe to ourdaily digest. If you find a retraction thatsnot in our database, you canlet us know here. For comments or feedback, email us at team@retractionwatch.com.

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University of Rochester cancer researchers included 'incorrect images' in 13 papers, committee finds - Retraction Watch

The United States is purchasing an additional10 million courses of Pfizer's COVID-19 treatment Paxlovid, the company said Tuesday, bringing the total U.S. order to 20 million.

The move comes as the Biden administration seeks to ramp up the treatments available as another tool to battle the virus.

Pfizer also said Tuesday that the delivery of the first 10 million courses has been accelerated to June, with the following 10 million coming by September.

Experts have been pushing the White House to do more to ramp up production of the treatment given that it can play a major role in defanging the virus, but it is expected to be in shortage in the near term.

The White House previously said that just 265,000 courses of the treatment would be available in January, amid a major surge of COVID-19.

Officials have pointed to a complex manufacturing process as posing hurdles to getting doses sooner.

"Its still way too small and too late to meet the anticipated needs," Eric Topol, professor of molecular medicine at Scripps Research, wrote in an email after the announcement of the new order.

President BidenJoe BidenTrump blasts 'low-life Twitter' after Greene's account suspended Jill Biden to visit Kentucky to see tornado damage On The Money Biden's beef with the meat industry MORE is set to give remarks on the omicron variant and the latest in the response to the surge later Tuesday afternoon.

Pfizer did not give a price for the latest order of its treatment. The U.S. paid$5.295 billion for the original 10 million courses.

Trials showed that the pill is highly effective, reducing the risk of hospitalization or death by 89 percent in high-risk patients. It is intended to be taken within five days of the onset of symptoms.

See original here:
US orders another 10 million courses of Pfizer COVID-19 treatment | TheHill - The Hill

Irvine, Calif., Jan. 4, 2022 For the first time, University of California, Irvine researchers in collaboration with the Max-Planck Institute of Biochemistry have revealed at a molecular level, key structural determinants of the highly specialized rod outer segment (ROS) membrane architecture of the eye, which is instrumental to vision.

Published in eLife, the study, titled Determinants shaping the nanoscale architecture of the mouse rod outer segment, provides an understanding of the mechanisms underlying the pathologies of certain gene mutations. These mutations, found within genes encoding the key structural proteins in the ROS membrane, have been shown to lead to blindness.

Our findings indicate that these gene mutations could impede or completely prevent disk morphogenesis which, in turn, would disrupt the structural integrity of ROS, compromise the viability of the retina and ultimately lead to blindness, said Krzysztof Palczewski, Ph.D., Donald Bren Professor of Ophthalmology at the UCI School of Medicine and corresponding author. This study gives us insight into how the viability of the retina is compromised by diseases, like retinitis pigmentosa and Stargardt disease, that affect structural proteins including peripherin of ABCA4. Armedwith this data, we can now target new therapeutic approaches aimed at treating or potentially curing blindness.

The highly ordered ultrastructure of ROS was described more than five years ago, however its organization on the molecular level remained poorly understood, until now. Utilizing cryo-electron tomography (cryo-ET) and a new sample preparation method, the UCI-led team was able to obtain molecular resolution images of ROS.

Cryo-ET enabled us to image rim disc structures and to quantitatively assess the connectors between disks revealing the molecular landscape in ROS, including connectors between ROS disk membranes, explained Palczewski. With this information, we are able to address open questions regarding the close disk stacking and the high membrane curvature at disk rims, which are specialized and essential structural characteristics of ROS.

Ongoing research, including studies involving humans, is necessary to test these new findings. However, preliminary indications are that new therapeutic approaches will most likely involve gene editing technologies, rather than gene augmentation or pharmacological interventions.

This research was supported by grants from the CIFAR program Molecular Architecture of Life, the National Institutes of Health and the Research to Prevent Blindness organization.

About the UCI School of Medicine

Each year, the UCI School of Medicine educates more than 400 medical students, and nearly 150 doctoral and masters students. More than 700 residents and fellows are trained at UCI Medical Center and affiliated institutions. The School of Medicine offers an MD; a dual MD/PhD medical scientist training program; and PhDs and masters degrees in anatomy and neurobiology, biomedical sciences, genetic counseling, epidemiology, environmental health sciences, pathology, pharmacology, physiology and biophysics, and translational sciences. Medical students also may pursue an MD/MBA, an MD/masters in public health, or an MD/masters degree through one of three mission-based programs: the Health Education to Advance Leaders in Integrative Medicine (HEAL-IM), the Leadership Education to Advance Diversity-African, Black and Caribbean (LEAD-ABC), and the Program in Medical Education for the Latino Community (PRIME-LC). The UCI School of Medicine is accredited by the Liaison Committee on Medical Accreditation and ranks among the top 50 nationwide for research. For more information, visit som.uci.edu.

About the University of California, Irvine:Founded in 1965, UCI is the youngest member of the prestigious Association of American Universities and is ranked among the nations top 10 public universities byU.S. News & World Report. The campus has produced five Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UCI has more than 36,000 students and offers 224 degree programs. Its located in one of the worlds safest and most economically vibrant communities and is Orange Countys largest employer, contributing $7 billion annually to the local economy and $8 billion statewide.For more on UCI, visitwww.uci.edu.

About the UCIs Brilliant Future campaign:Publicly launched on October 4, 2019, the Brilliant Future campaign aims to raise awareness and support for UCI. By engaging 75,000 alumni and garnering $2 billion in philanthropic investment, UCI seeks to reach new heights of excellence instudent success,health and wellness, research and more. TheSchool of Medicine plays a vital role in the success of the campaign. Learn more by visitinghttps://brilliantfuture.uci.edu/uci-school-of-medicine/.

Media access:Radio programs/stations may, for a fee, use an on-campus ISDN line to interview UCI faculty and experts, subject to availability and university approval. For more UCI news, visitwp.communications.uci.edu. Additional resources for journalists may be found atcommunications.uci.edu/for-journalists.

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UCI researchers reveal molecular mechanisms underlying mutations within the eye that lead to blindness - UCI News

Welcome toTuesdaysOvernight Health Care, where were following the latest moves on policy and news affecting your health.Subscribe here:thehill.com/newsletter-signup.

An untreated,frozenroad trappedriversovernight on I-95in Virginia, including Sen.Tim KaineTimothy (Tim) Michael KaineSchumer vows Senate rules change vote by Jan. 17 if GOP blocks voting rights Democratsreturn with lengthy to-do list Biden, lawmakers mourn Harry Reid MORE(D-Va.), who arrived at the Capitol nearly 27 hours after he left home.

President BidenJoe BidenTrump blasts 'low-life Twitter' after Greene's account suspended Jill Biden to visit Kentucky to see tornado damage On The Money Biden's beef with the meat industry MORE addressed the nation on Tuesday attemptingto alleviate concerns about the omicron variant ascases have spiked nationwide.

For The Hill, were Peter Sullivan (psullivan@thehill.com), Nathaniel Weixel (nweixel@thehill.com)andJustine Coleman (jcoleman@thehill.com). Write to us with tips and feedback, and follow us on Twitter:@PeterSullivan4,@NateWeixeland@JustineColeman8.

Lets get started.

Bideneases omicron alarm, urges vaccinations

President Bidenon Tuesday sought to tamp down worries about the omicron coronavirus variant, underscoring that COVID-19 vaccines protect against severe illness from the virus.

Speaking before a briefing with his COVID-19 advisers at the White House, Biden said that the U.S. has the tools to protect Americans from severe illness from the virus.

If you are vaccinated and boosted you are highly protected, Biden said Tuesday, noting that those who are vaccinated can still contract COVID-19 but are unlikely to become seriously ill.

Be concerned about omicron but dont be alarmed. But if youre unvaccinated, you have some reason to be alarmed, he said.

Read more here.

A MESSAGE FROM ASTRAZENECA AND FRIENDS OF CANCER RESEARCH

The Battle Against Cancer: Setting the Next Agenda

To mark 50 years since the passage of the National Cancer Act of 1971, a select group of thought leaders working at the intersection of public health and oncology participated in a roundtable discussion, hosted by The Hill in partnership with Friends of Cancer Research and AstraZenecas YOUR Cancer Program, on expanding access to oncology precision medicine. Learn more.

RELATED: BIDEN ALSO CALLED FOR SCHOOLS TO STAY OPEN

President Bidenon Tuesday reiterated his belief that schools in the United States should remain physically open despite the wave of coronavirus cases driven largely by the omicron variant.

Biden noted during remarks at the White House that his $1.9 trillion coronavirus relief plan included billions of dollars to help support schoolreopeningsduring the coronavirus pandemic.

We have no reason to think at this point that omicron is worse for children than previous variants. We know that our kids can be safe when in school by the way. Thats why I believe schools should remain open. They have what they need, Biden said before a briefing with his COVID-19 response team.

Political issue:Republicans have tried to make schoolreopeningsa political issue, arguing that Democrats are siding withteachersunions and support closing schools during the pandemic.

Some schools have decided to revert to remote learning for periods of time as cases surge around the country, including districts in Wisconsin, Michigan and Ohio.

Read more here.

More Pfizer pills on the way...but is it enough?

The United States is purchasing an additional10 million courses of Pfizer's COVID-19 treatmentPaxlovid, the company said Tuesday, bringing the total U.S. order to 20 million.

The move comes as the Biden administration seeks to ramp up the treatments available as another tool to battle the virus.

Pfizer also said Tuesday that the delivery of the first 10 million courses has been accelerated to June, with the following 10 million coming by September.

Calls formore: Experts have been pushing the White House to do more to ramp up production of the treatment given that it can play a major role in defanging the virus, but it is expected to be in shortage in the near term.

The White House previously said that just 265,000 courses of the treatment would be available in January, amid a major surge of COVID-19.

Officials have pointed to a complex manufacturing process as posing hurdles to getting doses sooner.

"Its still way too small and too late to meet the anticipated needs," Eric Topol, professor of molecular medicine at Scripps Research, wrote in an email after the announcement of the new order.

Read more here.

CDC: Omicron now 95 percent of all cases

The new data shows how quicklythe highly transmissible variant has taken over, displacing the previously dominant delta variant.Just two weeks earlier, in the week ending Dec. 18, omicron accounted for only 38 percent of U.S.cases, the CDC said.

The omicron variant has fueled a massive spike in cases, to over 400,000 per day nationwide, but there is mounting evidence that the variant, on average, causes less severe disease than previous variants.

Key is hospitalizations:Still, while most people will have mild cases, even a smallpercentagegetting hospitalized poses a risk to the hospital system given the massive numberof total infections.

About 100,000 people are hospitalized with COVID-19,according to a New York Times tracker, aboutthe same asthe peak from the deltawave over the summer, and the number is climbing quickly.

The CDClast monthsignificantlyrevised down its estimatesfor omicron's prevalence. But the range of the latest estimate is smaller, indicating a higher level of confidence.

Read more here.

CDC RECOMMENDS PFIZER RECIPIENTS GET BOOSTER AFTER 5 MONTHS

The Centers for Disease Control and Prevention (CDC) recommended on Tuesday that Pfizer-BioNTech COVID-19 vaccine recipients get a booster dose five months after their second shot instead of the previously approved six months.

The agency endorsed the shorter period after the Food and Drug Administration (FDA) authorized the reduced timeline on Monday for those who received the Pfizer-BioNTech vaccine.

The CDC also suggested moderately and severely immunocompromised 5- to 11-year-olds get an additional dose about a month after their second shot, aligning their recommendations for the age group with immunocompromised adults.

The CDCs advisory panel is slated to meet Wednesday to discuss whether to recommend boosters for 12- to 15-year-olds after the FDA expanded access to the extra doses among young teens.

For other vaccines:The CDC still suggests that Johnson & Johnson and Moderna recipients receive their boosters two months and six months, respectively, after completing the primary series.

Read more here.

WHAT WERE READING

A MESSAGE FROM ASTRAZENECA AND FRIENDS OF CANCER RESEARCH

The Battle Against Cancer: Setting the Next Agenda

To mark 50 years since the passage of the National Cancer Act of 1971, a select group of thought leaders working at the intersection of public health and oncology participated in a roundtable discussion, hosted by The Hill in partnership with Friends of Cancer Research and AstraZenecas YOUR Cancer Program, on expanding access to oncology precision medicine. Learn more.

STATE BY STATE

OP-EDS IN THE HILL

That's it for today, thanks for reading. Check out The Hill's healthcarepage for the latest news and coverage. See you tomorrow.

More here:
Overnight Health Care Presented by AstraZeneca and Friends of Cancer Research Biden seeks to alleviate omicron concerns | TheHill - The Hill

SOUTH SAN FRANCISCO, Calif., Jan. 4, 2022 /PRNewswire/ -- Molecular Stethoscope, a leading Precision Medicine biotechnology company pioneering the next-generation cf-mRNA Liquid Biopsy, announced today that it has joined Verily Life Sciences ("Verily") partnered laboratory ecosystem in South San Francisco and appointed Gajus Worthington to its Board of Directors. The Company is now positioned to accelerate the translation of its proprietary cf-mRNA Liquid Biopsy Technology Platform to develop products and services for Precision Medicine clinical practice and biopharma R&D.

Circulating cell-free RNA in the blood provides a window into patient health, phenotype and developmental programs of a variety of human organs.

"We are excited and energized to establish our new corporate headquarters and expand our R&D laboratories in South San Francisco, which positions us to attract and retain the best talent, grow our clinical and academic collaborations, expand our commercial partnerships, and drive the development of our clinical-grade cf-mRNA liquid biopsy pipeline infrastructure to support our roadmap of products and services," stated Guillermo Elias, Ph.D., Chief Executive Officer at Molecular Stethoscope. "This new phase of our growth in Silicon Valley will significantly build upon our foundational cell-free RNA biology research and development work in San Diego and will leverage our recently completed and published human proof-of-concept studies in transplant oncology, Alzheimer's and liver disease" added Dr. Elias, CEO.

Molecular Stethoscope also announced the appointment of Gajus Worthington as Executive Chairman of its Board of Directors. "I've been a fan of Molecular Stethoscope's cf-mRNA technology for years," said Gajus. "I believe this company is positioned to lead the next generation of liquid biopsy development, and I'm very excited to be part of it."

"We are delighted to welcome Gajus to our company. I have known Gajus for many years and admire his passion for translating cutting-edge technologies into game-changing products and building successful companies. Gajus brings a wealth of significant leadership experience to our Board of Directors to guide and support the continued growth of our enterprise," commented Dr. Elias, CEO.

Story continues

Mr. Worthington has been Chief Operating Officer of the Chan Zuckerberg Biohub (CZ Biohub) since May of 2017, where he has worked with the CZ Biohub leadership to set strategy, build and oversee much of the organization. Prior to the CZ Biohub, Mr. Worthington served as Chief Executive Officer of Fluidigm Corporation (NASDAQ:FLDM), a company he co-founded. During his 17-year tenure at Fluidigm, he led the development and commercialization of Fluidigm's pioneering microfluidics technology with applications in single-cell genomics, agriculture, and diagnostic testing and raised over $500M in private and public funding. Mr. Worthington earned a Bachelor's degree in physics and a Master's degree in electrical engineering from Stanford University. He is an elected fellow of the American Institute for Medical and Biological Engineering.

About Molecular Stethoscope

Molecular Stethoscope is a Precision Medicine biotechnology company pioneering a Next-Generation cf-mRNA Liquid Biopsy AI/ML Technology Platform. The Company is focused on discovering, developing and commercializing non-invasive and dynamic products for the early detection, diagnosis and treatment-response monitoring of chronic diseases starting with the liver (NAFLD/NASH) and the central nervous system (Alzheimer's Disease and Multiple Sclerosis). Molecular Stethoscope was co-founded by Dr. Stephen Quake, Professor of Bioengineering at Stanford University, and co-President of the Chan Zuckerberg Biohub, and Dr. Eric Topol, Director and Founder, Scripps Research Translational Institute, and Chair of Innovative Medicine at Scripps. The Company's proprietary Next-Generation cf-mRNA Liquid Biopsy Technology Platform integrates cell-free mRNA (cf-mRNA) with RNA-Seq, clinical information, and purpose-built bioinformatics, machine learning and artificial intelligence to generate clinically actionable, dynamic information to significantly improve the health of patients. The Company's novel Technology Platform harnesses with unprecedented precision the dynamic information from biological processes underlying chronic diseases in biopsy-accessible (e.g., liver) and biopsy-inaccessible (e.g., brain) organ systems, thus enabling early, non-invasive, longitudinal and serial diagnosis and monitoring of diseases - while avoiding costly and invasive biopsies which can have adverse effects - to fundamentally change how healthcare is delivered at scale.

Forward Looking Statement

This press release contains forward-looking statements including, but not limited to statements about the Company's expectations regarding its proprietary Technology Platform. Forward looking statements are subject to uncertainties that could cause actual performance or results to differ materially from those expressed in the forward-looking statements.

Additional information and inquiries

Investor Relations: investorrelations@molecularstethoscope.com

Public and Media Relations: publicrelations@molecularstethoscope.com

SOURCE Molecular Stethoscope, Inc.

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Molecular Stethoscope, Inc. establishes new Corporate Headquarters and Research & Development Laboratories in South San Francisco and appoints...

An at-home COVID-19 testing method that is spreading like wildfire on social media claims that people should swab their throat instead of their nose in order to get a more accurate test result.NewsCenter 5 interviewed three different doctors about the throat swab method, and each of them said at-home COVID-19 tests were developed, studied and approved by the U.S. Food and Drug Administration to be used a certain way by swabbing the nose."I think any recommendation to swab your throat would be premature, and I think it's important to follow the directions on the tests as they are written," said Dr. Helen Boucher, an infectious disease specialist at Tufts Medical Center and the interim dean of the Tufts University School of Medicine."Right now, these kinds of reports are just that just reports and rumors that are kind of going around," said Dr. Nate Hafer, an assistant professor of molecular medicine at UMass Chan Medical School. "We don't have any hard data yet showing that swabbing the throat versus the nasal area is any better.""People are not going to like it. It's probably going to cause a little bit of a gag reflex," said Dr. Brian Cruz, regional director for PhysicianOne Urgent Care.More at-home COVID-19 test FAQsWhen it comes to efficacy, Boucher said she is not aware of any data that suggests any brands of authorized, at-home COVID-19 test perform better than others."I think, really, the best thing to do is to use the test that you have available," Boucher said. "Most of them have very good directions with diagrams to help you. So using them as directed is another layer of protection that can be added to the other measures that we have."In order to ensure that negative results from at-home COVID-19 tests are accurate, Cruz recommends that people who are asymptomatic test multiple times over multiple days."To do serial testing is more beneficial to try to pick up the virus than just one test and think: 'Hey, I'm OK to go,'" Cruz said.At-home COVID-19 test kits, however, can be expensive. According to the Internal Revenue Service, those kits can be paid for or reimbursed with a health savings account.

An at-home COVID-19 testing method that is spreading like wildfire on social media claims that people should swab their throat instead of their nose in order to get a more accurate test result.

NewsCenter 5 interviewed three different doctors about the throat swab method, and each of them said at-home COVID-19 tests were developed, studied and approved by the U.S. Food and Drug Administration to be used a certain way by swabbing the nose.

"I think any recommendation to swab your throat would be premature, and I think it's important to follow the directions on the tests as they are written," said Dr. Helen Boucher, an infectious disease specialist at Tufts Medical Center and the interim dean of the Tufts University School of Medicine.

"Right now, these kinds of reports are just that just reports and rumors that are kind of going around," said Dr. Nate Hafer, an assistant professor of molecular medicine at UMass Chan Medical School. "We don't have any hard data yet showing that swabbing the throat versus the nasal area is any better."

"People are not going to like it. It's probably going to cause a little bit of a gag reflex," said Dr. Brian Cruz, regional director for PhysicianOne Urgent Care.

When it comes to efficacy, Boucher said she is not aware of any data that suggests any brands of authorized, at-home COVID-19 test perform better than others.

"I think, really, the best thing to do is to use the test that you have available," Boucher said. "Most of them have very good directions with diagrams to help you. So using them as directed is another layer of protection that can be added to the other measures that we have."

In order to ensure that negative results from at-home COVID-19 tests are accurate, Cruz recommends that people who are asymptomatic test multiple times over multiple days.

"To do serial testing is more beneficial to try to pick up the virus than just one test and think: 'Hey, I'm OK to go,'" Cruz said.

At-home COVID-19 test kits, however, can be expensive. According to the Internal Revenue Service, those kits can be paid for or reimbursed with a health savings account.

Read more:
Is throat swab more effective? Massachusetts doctors weigh in on at-home COVID-19 testing method - WCVB Boston