Category Archives: Transhuman News

Scientists have studied the full genetic information of more than 18,000 cancer samples. They found new information about the patterns of mutations, or changes, that could help doctors provide better treatment.

Their study, which appeared recently in the publication Science, is not the first to do such a complete genetic study of cancer samples. But no one has ever used such a large sample size.

Serena Nik-Zainal of the University of Cambridge was part of the team that did the research. She said this was the largest cohort in the world. It is extraordinary."

Over 12,000 samples in the study came from patients recruited by Britains National Health Service. They were part of a project to study whole genomes from people with common cancers and rare diseases. The rest of the data came from existing cancer data sets.

Researchers were able to study such a large number because of the same improvements in technology that recently permitted scientists to complete the map of the entire human genome.

Andrew Futreal, a genomic expert at MD Anderson Cancer Center in Houston, was not involved in the study. He said the study gives scientists some knowledge of the destructive forces that cause cancer.

Cancer is a disease of the genome or full set of instructions for running cells. It happens when changes in a persons DNA cause cells to grow and divide uncontrollably. DNA is a substance that carries the genetic information in the cells of living things, like a human. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different kinds of cancer in the human body. It identified 58 new mutational signatures, or pieces of evidence leading to the causes of cancer. Nik-Zainal said researchers also confirmed 51 of more than 70 previously reported mutation patterns. Some arise because of problems within a persons cells; others are caused by ultraviolet radiation, tobacco smoke, or chemicals.

Knowing more of them helps us to understand each persons cancer more precisely, which can help guide treatment, Nik-Zainal said.

Genetic sequencing, the process used to study the makeup of a cell, is already being included in cancer care. It is part of the growing move toward personalized medicine, or care based on a patients genes and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer program that will let them find common mutation patterns and seek out rare ones. Nik-Zainal said doctors could suggest a treatment based on a special pattern.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern. This will help doctors give earlier treatment and hopefully stop the developing disease.

Im John Russell.

Laura Ungar reported on this story for the Associated Press. John Russell adapted it for VOA Learning English.

____________________________________________________________________

sample n. a group of people or things that are taken from a larger group and studied, tested, or questioned to get information

pattern n. the regular and repeated way in which something happens

mutation n. a change in hereditary material

cohort n. a group of individuals having something (usually a statistical factor) in common in a study

genome n. the complete set of genes in a cell or organism

DNA n. a substance that carries genetic information in the cells of plants and animals

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Study of Cancer Genetics to Help with Targeted Treatment - VOA Learning English

Jonathan Cohen, Ph.D.

DALLAS May3, 2022 The National Academy of Sciences (NAS) today elected UTSouthwestern scientist Jonathan Cohen, Ph.D., into its membership, one of the highest honors for American scientists. Dr. Cohen, Professor of Internal Medicine in the Center for Human Nutrition and the Eugene McDermott Center for Human Growth and Development at UTSouthwestern, was elected by his peers in recognition of distinguished and continuing achievements in original research. His research centers on identifying genes that play major roles in the metabolism of cholesterol and triglycerides and elucidating the biological roles of their protein products.

The election of Dr. Cohen to the prestigious National Academy of Sciences recognizes the pioneering contributions that he has madein elucidating the genetic basis of chronic conditions including heart disease, liver disease, and obesity, said Daniel K. Podolsky, M.D., President of UTSouthwestern. As a member of the Academy, he will advance its mission of providing independent, objectiveadvice to the nation on matters related to science and technology.

Dr. Cohen was among 120 new U.S. and 30 nonvoting foreign members announced today. UTSouthwestern now has 26 members of the National Academy of Sciences, more than any institution in Texas and the most at any time in UTSouthwestern's nearly 80-year history.

This latest election is a testament to the caliber and expanse of science taking place at UTSouthwestern and will serve as an inspiration to new generations of trainees and scientists that will continue the long tradition of discovery that we embody here, said W. P. Andrew Lee, M.D., Executive Vice President for Academic Affairs, Provost, and Dean of UTSouthwestern Medical School.

Dr. Cohen joined UTSouthwestern as a postdoctoral fellow in 1989 and worked first with Scott Grundy, M.D., Ph.D., Professor of Internal Medicine in the Center for Human Nutrition, where his research focused on lipid metabolism in humans. Realizing that he needed training in genetics to accomplish his goals, he also trained with Helen Hobbs, M.D., who has long focused on defining the genetic determinants of plasma lipid levels and cardiovascular risk.

In 2000, Dr. Cohen and Dr. Hobbs combined forces and joined with the late Ronald Victor, M.D., to design the Dallas Heart Study, a longitudinal, multiethnic, population-based study of more than 3,500 Dallas County residents. They set out to discover new genetic factors that contribute to variations in the levels of cholesterol in the blood, especially LDL cholesterol, often referred to as bad cholesterol. High levels of LDL cholesterol in the blood increase the risk of a heart attack. They asked if individuals who had low cholesterol levels their entire lives due to a genetic difference would be protected from heart disease.

At the time they initiated their studies, it was generally regarded that common diseases are caused by genetic differences that are frequent. The way to identify such genetic differences is to test thousands of common sequence variations using a strategy called genomewide association studies (GWAS). Drs. Cohen and Hobbs took a different approach. They reasoned that identifying uncommon sequence differences that were likely to have large effects would be more informative.

In the Dallas Heart Study, they found that mutations in a gene called PCSK9 were associated with marked reductions in plasma levels of LDL cholesterol. Moreover, individuals with these mutations were protected from heart disease. These findings formed the basis for the rapid development of a new class of cholesterol-lowering agents that target PCSK9. They used a similar approach to identify other genes that alter plasma levels of cholesterol and triglycerides, leading to the development of a second lipid-lowering therapy.

In addition, the Hobbs-Cohen lab identified the first genetic risk factor for fatty liver disease both nonalcoholic and alcoholic. This increasingly common disorder will soon overtake hepatitis C as the No.1 indication for liver transplantation.

Dr. Cohen grew up in South Africa and earned his Ph.D. in physiology at the University of Cape Town. In 2015, Dr. Cohen was recognized with the Barbara Bowman Distinguished Texas Geneticist Award, and in 2016, he and Dr. Hobbs received the Passano Award, given for exemplary research that leads to real-world applications.

Other UTSouthwestern faculty who are members of the NAS, and the years they were elected, are: Michael Brown, M.D., and Joseph Goldstein, M.D., both in 1980; Jonathan Uhr, M.D., 1984; Steven McKnight, Ph.D., 1992; Ellen Vitetta, Ph.D., 1994; Johann Deisenhofer, Ph.D., 1997; Eric Olson, Ph.D., 2000; Joseph Takahashi, Ph.D., and Masashi Yanagisawa, M.D., Ph.D., both in 2003; Melanie Cobb, Ph.D., and David W. Russell, Ph.D., both in 2006; Helen Hobbs, M.D., 2007; Bruce Beutler, M.D.and David Mangelsdorf, Ph.D., both in 2008; Luis Parada, Ph.D., 2011; Zhijian James Chen, Ph.D., 2014; Lora Hooper, Ph.D., and Steven Kliewer, Ph.D., both in 2015; Joan W. Conaway, Ph.D., Sean Morrison, Ph.D., Kim Orth, Ph.D., Mike Rosen, Ph.D., and Sandra Schmid, Ph.D., all in 2020; and Donald Hilgemann, Ph.D., and Margaret Phillips, Ph.D., both in 2021.

Dr. Cohen holds the C. Vincent Protho Distinguished Chair in Human Nutrition Research.

Dr. Hobbs holds the [1995] Dallas Heart Ball Chair in Cardiology Research; the Philip OBryan Montgomery Jr., M.D., Distinguished Chair in Developmental Biology; and the Eugene McDermott Distinguished Chair for the Study of Human Growth and Development.

Dr. Lee holds the Atticus James Gill, M.D. Chair in Medical Science.

Dr. Podolsky holds the Philip OBryan Montgomery, Jr., M.D. Distinguished Presidential Chair in Academic Administration, and the Doris and Bryan Wildenthal Distinguished Chair in Medical Science.

About UTSouthwestern Medical Center

UTSouthwestern, one of the nations premier academic medical centers, integrates pioneering biomedical research with exceptional clinical care and education. The institutions faculty has received six Nobel Prizes, and includes 26 members of the National Academy of Sciences, 17 members of the National Academy of Medicine, and 14 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 2,900 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UTSouthwestern physicians provide care in more than 80 specialties to more than 100,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 4 million outpatient visits a year.

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UTSW geneticist Jonathan Cohen elected to the National Academy of Sciences - UT Southwestern

Oncologist Eduardo Vilar-Snchez.NCI

If a vaccine can reduce the severity of Covid-19 in a person infected with the virus that causes it, why cant the same be achieved with cancer, which kills some 10 million people a year?

In a few months, oncologist Eduardo Vilar-Snchez will test exactly this theory when he trials a vaccine for hereditary colon tumors that could benefit the general population.

A graduate of Barcelonas Vall dHebron Hospital, Vilar-Snchez works in the department of Clinical Cancer Prevention at the MD Anderson Cancer Center (Houston, USA) where he studies rare diseases caused by genetic mutations that are inherited from generation to generation in the same family. His patients include people with Lynch syndrome who have an 85% chance of developing colon cancer in their lifetime; 17 times more than the general population. The doctor also treats people affected by familial adenomatous polyposis (an inherited colon cancer), who have a 100% chance of developing the same tumor before their 30th birthday.

Vilar-Snchez hopes the vaccine he is developing for Lynch syndrome can also help prevent cancer in others. He spoke to EL PAS following a recent symposium of the Spanish Association of Human Genetics.

Question: Scientists have been researching cancer vaccines for decades. Why hasnt one been found?

Answer: We do have vaccines against cancers brought on by viruses, such as human papilloma or hepatitis C. In these cases, the virus is a foreign entity, so it is much easier to create a vaccine.

By contrast, cancer cells come from ourselves; they are more like our own cells than anything else. To develop a vaccine, we look for a particular protein that is expressed in the cells of the cancerous tumor, but we have to be very sure the vaccine does not get into any other organ because we can cause a deadly autoimmune reaction.

Q. If its so complicated, why keep trying?

A. Before, we had to research gene by gene, protein by protein. Now, with massive genome sequencing techniques, we can see everything at once and look for those abnormal proteins that are exclusive to the tumor. These massive analyses of proteins were not possible until a few years ago.

Even so, cancer has a thousand faces colon cancer for example is nothing like brain or bladder cancer. Finding a generic vaccine to try to intercept all cancers is very, very challenging.

Q. How does your vaccine work?

A. When our cells replicate naturally, they generate a new strand of DNA copied from the original cell. Copy errors are made in this process, but there are systems that correct them with great efficiency. Patients with Lynch syndrome have a deactivated DNA repair system, known as mismatch. In these patients, the copy errors of the replication process are not corrected. They end up accumulating a series of mutations that produce an abnormal peptide, which is a molecule that does not exist in normal tissues. This gives us an opportunity to develop a vaccine.

Q. How?

A. We looked for peptides shared by the majority of patients; people who have had tumors of the colon, endometrium, stomach, or urinary tract. This summer, together with Nouscom, the company that has developed the vaccine, we are going to start the first phase of trials with some 45 patients.

Q. If proven effective, could this vaccine also serve the general population?

A. For a rare disease, the prevalence of Lynch syndrome is considerable: in the US alone there are one million patients. In general, 15% of people with colon cancer [i.e. not just those who have Lynch syndrome] also have damage to their DNA repair system, as do 20% of people with endometrial cancer and 5% with bladder and stomach cancer. If the vaccine [for Lynch syndrome] could be extrapolated [to the people in these situations], yes, it could potentially benefit many people who do not have the hereditary disease.

Q. And this vaccine is capable of preventing cancer before it appears?

A. Colon cancer develops from a polyp, which is a collection of premalignant cells. Sometimes the immune system identifies them and eliminates them. Other times, it does not turn into a tumor. The key is to look for the abnormal proteins in the polyps that do give rise to tumors, and [target them with the vaccine, through which] either the immune system freezes the growth of that polyp or eliminates it.

Q. You lead a project to define what precancer is. Tell us about it?

A. Thanks to projects such as the Cancer Genome Atlas, we now know about mutations in different tumors. We are yet to know which mutations are present in a premalignant [pre-cancerous] lesion, such as a polyp perhaps this is where we will find the answer to stopping the development of a tumor using vaccines or chemical compounds.

In the US, the National Cancer Institute (NCI) is doing something very similar in [researching vaccines for] tumors of the respiratory tract and digestive system.

The future of curing cancer lies in prevention. We are already greatly increasing survival and quality of life with current cancer treatments. There are tumors that, thanks to immunotherapy, are treated successfully, but the reality is that the cure will only come through prevention with vaccines or drugs. The [NCIs] precancer atlas is a preliminary step to achieve this.

Q. Do you think there will one day be preventive vaccines against cancer?

A. I want to be [cautiously] optimistic: much progress is being made, and rapidly; there are more resources right now with the explosion in immunology that has occurred with covid. I think we will see them [preventive vaccines] there will be very specific vaccines for each tumor.

Q. As a specialist, how do you explain the increase in cases of colon cancer among young people?

A. The problem is that screening strategies help to detect classic, so to speak, colon cancer the one we know best and that appears at older ages very well. [But now], early-age cases are growing a lot.

There is a lot of interest in this. We have a project in our hospital analyzing the molecular characteristics of [cancerous colon] tumors in young people. For now, at this molecular level, we do not see clear features [that distinguish the early-age cancers from those that occur in older age].

I think that this spike [in cases of colon cancer among younger people] is actually explained by our sedentary lifestyle in Western economies, and how our food is generated; how we feed ourselves.

Edited by Ann Deslandes.

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The future of curing cancer lies in prevention - EL PAS in English

On 27 April, the Progress Educational Trust (PET), a charity with the aim of advancing the public understanding of science, law and ethics in the fields of human genetics, assisted reproduction, embryology and stem cell research, ran an online debate on the powers of the Human Fertilisation and Embryology Authority (HFEA).

The session titled 'Authority over Assisted Reproduction: What Powers Should the HFEA Have?', welcomed speakers from across the world of IVF including from the HFEA itself and a patient advocate. Current powers of the HFEA under the HFE Act were discussed, as well as whether these should be extended or pared back in light of the thirty odd years that have gone by since the advent of the HFE Act.

It is clear that the HFEA believes its powers should be expanded to address, among other things, the numerous scientific and technological advances in the area of IVF and the need for sanctions imposed by the HFEA to be proportionate to the specific breaches of the regulations (this would include the power to impose fines). However, several speakers from private clinics voiced their concerns with regard to the clinical expertise of the HFEA and whether the HFEA is capable of effectively assessing cutting-edge technology or carrying out a detailed assessment of the clinical capabilities and compliance of HFEA-regulated clinics.

This session was the first of two events organised by PET and focused on updating the HFE Act. The second event, titled 'Fertility Frontiers: What Is a "Permitted" Embryo in Law?', is scheduled for Wednesday 25 May 2022 and my colleague, Of Counsel Julian Hitchcock, will be speaking. Registration is free and we look forward to another lively debate on a fascinating area of life sciences regulation.

In the UK, fertility treatment and embryo research have a dedicated statutory regulator, the Human Fertilisation and Embryology Authority (HFEA). The UK Government has signalled that the laws which define the HFEA's powers could be revised in the near future.

https://pet.secure.force.com/PETEvents/PETEve

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Updates to the Human Fertilisation and Embryology (HFE) Act - Lexology

- Multiple Presentations Feature HMI-103 Phase 1 Investigational Therapy for PKU, Including Genome-Wide Integration Assays to Confirm No Off-Target Editing -

- New Data from GTx-mAb Program Support Potential to Target Many Complement-Related Disorders -

- Presentations Feature the Discovery and Characterization of a Non-Liver-Tropic Capsid and Other Distinct Properties of Homologys Family of 15 Naturally Derived AAVHSCs -

- Symposium to be Held on May 18, 2022 at 7:30 a.m. ET-

BEDFORD, Mass., May 02, 2022 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a genetic medicines company, announced today that the first presentation detailing the optimization and mechanism of action of its HMI-103 nuclease-free gene editing candidate for phenylketonuria (PKU) will take place during the American Society for Gene & Cell Therapy (ASGCT) 25th Annual Meeting May 16-19, 2022. The data to be presented, which include a genome-wide assay that detects on- and off-target gene integration, supported the initiation of the pheEDIT trial evaluating HMI-103 for PKU, the first gene editing study for this disease. New information from the Companys GTx-mAb program, including data that further characterize the expression of C5 antibodies from AAVHSCs, will also be shared. Additionally, details on Homologys family of 15 adeno-associated viruses derived from human hematopoietic stem cells (AAVHSCs) will be presented, including one demonstrating low tropism to the liver, and the unique properties that make them amenable to developing treatments for many genetic disorders.

Homology has focused on scientific and clinical innovation with the translation of our in vivo gene therapy and gene editing platform into one-time product candidates, and we believe that our approach to optimize nuclease-free gene editing to be unveiled at ASGCT is further evidence of our leadership in developing genetic medicines, said Albert Seymour, Ph.D., President and Chief Scientific Officer of Homology Medicines. Our team designed assays to ensure that we can scan the entire genome to detect on- and off-target events, and the preclinical data we plan to share confirm no evidence of off-target integration or unwanted mutations. Beyond the data backing our clinical programs and pipeline, we will report structural and functional analyses of our AAVHSCs including a novel capsid with low liver tropism, which further support their broad applicability and disease-specific capsid selectivity in developing treatments for other indications.

Homologys ASGCT 2022 presentations include:

In Vivo, Nuclease-Free Gene Editing Candidate HMI-103Sustained Correction of a Murine Model of Phenylketonuria and Integration into the Genome Following a Single Administration of an AAVHSC15 Phenylalanine Hydroxylase Gene Editing Vector

Genome-Wide and Directed Integration Assays Identify and Quantify rAAVIn VivoGene Editing Sites in Mice with Humanized Livers

GTx-mAb ProgramSustained Expression of C5mAb in Presence of Murine and Human FcRn

AAVHSC PlatformrAAV Vector Breakpoints Determined Using Single-Molecule, Modified Base Sequencing

Naturally Occurring Variations at the 501 and 706 Residues on AAVHSC16 Contribute to Reduced Liver Tropism and Slower Serum Clearance

The Structure of the 501 Residue on AAVHSC16 is Imperative to the Functional Binding to Cell Surface Glycans, Which is a Key Step in Successful Transduction

AAVHSC Capsid Selection StrategyCapsid Selection Strategy for the Development of Gene Therapies Based on Structural and Functional Analyses of a Panel of AAVHSCs

The abstracts are available on the ASGCT website.

Homology Symposium and WebcastIn conjunction with the ASGCT meeting, Homology will host a symposium on Wednesday, May 18, 2022 at 7:30 a.m. ET, including guest speaker Jerry Vockley, Ph.D., M.D., FACMG, Division Director, Genetic and Genomic Medicine, Professor of Pediatrics and Human Genetics, and Director, Center for Rare Disease Therapy at the University of Pittsburgh, and Lead Principal Investigator for the pheEDIT clinical trial. A webcast will also be accessible on Homologys website in the Investors section, and the replay will be available on the website for 90 days following the presentation.

About Homology Medicines, Inc.Homology Medicines, Inc. is a clinical-stage genetic medicines company dedicated to transforming the lives of patients suffering from rare diseases by addressing the underlying cause of the disease. The Companys clinical programs include HMI-102, an investigational gene therapy for adults with phenylketonuria (PKU); HMI-103, a gene editing candidate for PKU; and HMI-203, an investigational gene therapy for Hunter syndrome. Additional programs focus on metachromatic leukodystrophy (MLD), paroxysmal nocturnal hemoglobinuria (PNH) and other diseases. Homologys proprietary platform is designed to utilize its family of 15 human hematopoietic stem cell-derived adeno-associated virus (AAVHSCs) vectors to precisely and efficiently deliver genetic medicines in vivo through a gene therapy or nuclease-free gene editing modality, as well as to deliver one-time gene therapy to produce antibodies throughout the body through the GTx-mAb platform. Homology has a management team with a successful track record of discovering, developing and commercializing therapeutics with a focus on rare diseases. Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines. For more information, visit http://www.homologymedicines.com.

Forward-Looking Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding our expectations surrounding the potential, safety, efficacy, and regulatory and clinical progress of our product candidates; the potential of our gene therapy and gene editing platforms; our position as a leader in the development of genetic medicines; and our participation in upcoming presentations and conferences. These statements are neither promises nor guarantees, but involve known and unknown risks, uncertainties and other important factors that may cause our actual results, performance or achievements to be materially different from any future results, performance or achievements expressed or implied by the forward-looking statements, including, but not limited to, the following: the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies and clinical trials, and on general economic conditions; we have and expect to continue to incur significant losses; our need for additional funding, which may not be available; failure to identify additional product candidates and develop or commercialize marketable products; the early stage of our development efforts; potential unforeseen events during clinical trials could cause delays or other adverse consequences; risks relating to the regulatory approval process; interim, topline and preliminary data may change as more patient data become available, and are subject to audit and verification procedures that could result in material changes in the final data; our product candidates may cause serious adverse side effects; inability to maintain our collaborations, or the failure of these collaborations; our reliance on third parties, including for the manufacture of materials for our research programs, preclinical and clinical studies; failure to obtain U.S. or international marketing approval; ongoing regulatory obligations; effects of significant competition; unfavorable pricing regulations, third-party reimbursement practices or healthcare reform initiatives; product liability lawsuits; failure to attract, retain and motivate qualified personnel; the possibility of system failures or security breaches; risks relating to intellectual property; and significant costs incurred as a result of operating as a public company. These and other important factors discussed under the caption Risk Factors in our Annual Report on Form 10-K for the year ended December 31, 2021 and our other filings with the SEC could cause actual results to differ materially from those indicated by the forward-looking statements made in this press release. Any such forward-looking statements represent managements estimates as of the date of this press release. While we may elect to update such forward-looking statements at some point in the future, we disclaim any obligation to do so, even if subsequent events cause our views to change.

Company Contacts:Theresa McNeelyChief Communications Officer and Patient Advocatetmcneely@homologymedicines.com781-301-7277

Media Contact:Cara Mayfield Vice President, Patient Advocacy and Corporate Communications cmayfield@homologymedicines.com 781-691-3510

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Homology Medicines Announces Upcoming Presentation on Optimized In Vivo Gene Editing Candidate HMI-103 with First Details of Unique Mechanism of...

Scientists analyzed DNA from more than 300,000 people with and without the psychiatric disorder

Schizophrenia is a serious psychiatric disorder that starts in late adolescence or early adulthood and affects around 1 in 300 people worldwide, according to the World Health Organization.

Ayman Fanous, MDIn a paper published April 8 in Nature, specific genes were identified that could play important roles in the psychiatric disorder. In the largest genetic study of schizophrenia, researchers including Ayman Fanous, MD, analyzed DNA from 76,755 people with schizophrenia and 243,649 without it to better understand the genes and biological processes underpinning the condition.

Previous research has shown associations between schizophrenia and many DNA sequence changes, but rarely has it been possible to link the findings to specific genes, said Dr. Fanous, chair of the Department of Psychiatry at the University of Arizona College of Medicine Phoenix. Dr. Fanous also serves as chair of Psychiatry at Banner University Medical Center Phoenix.

We have been able to link many of them to specific genes, a necessary step in what remains a difficult journey toward understanding the causes of this disorder and identifying new treatments.

Dr. Fanous contributed to the study as a member of the Psychiatric Genomics Consortium, which comprises hundreds of researchers across 45 countries.

The study found a much larger number of genetic links to schizophrenia than ever before in 287 different regions of the genome, the human bodys DNA blueprint.

The study is the largest genome-wide association project to date, and the research team identified a substantial increase in the number of genomic regions associated with schizophrenia. Within these regions, they then used advanced methods to identify 120 genes likely to contribute to the disorder.

Although there are large numbers of genetic variants involved in schizophrenia, the study showed they are concentrated in genes expressed in neurons, pointing to these cells as the most important site of pathology. The findings also suggest abnormal neuron function in schizophrenia affects many brain areas, which could explain its diverse symptoms that may include hallucinations, delusions and problems thinking clearly.

More than 7,000 people with either African American or Latino ancestries were included, which researchers say is a small step toward making sure advances that come from genetic studies can benefit people beyond those of European ancestries.

To better understand the complexities of the genome and the mutations that lead to psychiatric disorders, it is very important that we leverage the power of larger, more ethnically diverse datasets, said Dr. Fanous. We encourage people of all ancestries to participate in genetic studies and help uncover the genetic causes of these illnesses.

Data from the Centers for Disease Control and Prevention reveal that more than 50% of Americans will be diagnosed with a mental illness or disorder at some point in their lives. Serious mental illness, such as schizophrenia, affects 1 in 25 Americans.

The College of Medicine Phoenix is building a translational research ecosystem in neuroscience and mental health to serve the needs of communities in Arizona, said Guy Reed, MD, MS, dean of the UArizona College of Medicine Phoenix. We are immensely proud to have Dr. Fanous leading research initiatives in genetics and genomics, in partnership with the Phoenix VA Health Care System, to identify novel therapies that will provide personalized care for patients.

This global study, led by Cardiff University, sheds the strongest light yet on the genetic basis of schizophrenia.

The research reported in this press release was funded by the National Institute of Mental Health of the National Institutes of Health under award number U01MH109514. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Researchers Identify Specific Genes that Play Key Role in Schizophrenia | The University of Arizona College of Medicine - The University of Arizona...

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

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

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

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

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

Laurinda Jaffe

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

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

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

Rachel ONeill

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

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

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

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

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

Richard Pomp

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

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

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

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

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

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

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Three Faculty Selected for Board of Trustees Distinguished Professorship - UConn Today - UConn