PHILADELPHIA The American Association for Cancer Research (AACR) today announced its newly elected class of Fellows of the AACR Academy.

The mission of the AACR Academy is to recognize and honor distinguished scientists whose scientific contributions have propelled significant innovation and progress against cancer. Fellows of the AACR Academy serve as a global brain trust of top contributors to cancer science and medicine who help advance the mission of the AACR to prevent and cure all cancers through research, education, communication, collaboration, science policy and advocacy, and funding for cancer research.

All Fellows are nominated and elected through an annual, multi-step peer review process conducted by existing Fellows of the AACR Academy and ratified by the AACR Academy Steering Committee and AACR Executive Committee in conjunction with the AACR Academy Nomination and Election Oversight Committee. This process involves a rigorous assessment of each candidates scientific accomplishments in cancer research and cancer-related sciences. Only individuals whose work has had a significant and enduring impact on cancer research are considered for election and induction into the AACR Academy.

This year, we are thrilled to announce the election of 33 new Fellows of the AACR Academy. These individuals from across the globe have all made quintessential contributions to cancer research, said Margaret Foti, PhD, MD (hc), chief executive officer of the AACR. The 2022 class consists of various luminaries who span the gamut of scientific disciplines. Collectively, their work has significantly accelerated the pace of progress against cancer and has served as an inspiration for countless cancer researchers. We are honored to have them join our 256 existing Fellows and look forward to celebrating their individual scientific achievements.

The members of the 2022 class of Fellows of the AACR Academy are:

Anne-Lise Brresen-Dale, PhD, MD (hc)

Professor Emerita, University of Oslo, Oslo, Norway

Scientific Areas of Expertise: Breast Cancer Profiling, Genomics, Molecular Genetics

For seminal research contributions involving breast cancer, DNA damage and repair, and the identification of molecular profiles that contribute to cancer risk, tumor staging, and therapy resistance led by conducting extensive gene expression profiling of breast carcinomas.

Otis Webb Brawley, MD

Associate Director, Community Outreach and Engagement, Sidney Kimmel Comprehensive Cancer Center; Bloomberg Distinguished Professor of Oncology and Epidemiology, Johns Hopkins University, Baltimore, Maryland

Scientific Areas of Expertise: Epidemiology of Cancer, Health Disparities, Medical Oncology

For significant contributions to the fields of cancer prevention, early detection, diet and nutrition, cancer health disparities, tobacco cessation, and whole-patient care; and for his contributions to the promotion of appropriate screening efforts for malignancies such as breast, colon, and prostate cancer.

Peter J. Campbell, MBBCh, PhD

Head of Cancer, Ageing and Somatic Mutation, and Senior Group Leader, Wellcome Sanger Institute, Cambridge, England, United Kingdom

Scientific Areas of Expertise: Cancer Genomics, Somatic Cell Evolution, Structural Variation

For innovative contributions to defining the genetics and evolution of normal and cancerous cells including leveraging large-scale cancer genome sequencing technologies to develop cutting-edge computational tools capable of analyzing cancer genomic datasets, characterizing tumor mutational burden, and informing how best to improve the clinical management of cancer patients.

Neal G. Copeland, PhD

Professor of Practice, Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas

Scientific Areas of Expertise: Cancer Genetics, Insertional Mutagenesis, Mouse Models of Human Cancer

For groundbreaking contributions to cancer genetics and quintessential studies involving the Sleeping Beauty transposable element system to establish various mouse models of cancer, which have been essential to the understanding of cancer initiation and progression, and for the identification of numerous candidate genes involved in carcinogenesis.

Luis Alberto Diaz Jr., MD

Head, Division of Solid Tumor Oncology; Grayer Family Chair, Memorial Sloan Kettering Cancer Center, New York, New York

Scientific Areas of Expertise: Cancer Therapeutics, Gastrointestinal Malignancies, Molecular Diagnostics

For pioneering efforts to provide the first definitive examples of circulating tumor DNA being successfully used as a cancer biomarker for screening, monitoring, and detection of occult disease, and for the discovery of the therapeutic link between immunotherapy and cancer genetics in patients with mismatch repair deficient tumors.

James R. Downing, MD

President and Chief Executive Officer, St. Jude Children's Research Hospital, Memphis, Tennessee

Scientific Areas of Expertise: Genetics and Genomics, Pediatric Oncology, Precision Medicine

For instrumental contributions to the creation and implementation of the Pediatric Cancer Genome Project, which has resulted in the sequencing of more than 800 genomes of children with cancer and several landmark discoveries in the biology of brain tumors, leukemia, cancer of the peripheral nervous system, and tumors of the eye.

Connie J. Eaves, OC, FRSC, FRS, CorrFRSE

Distinguished Scholar and Professor of Medical Genetics, School of Biomedical Engineering, University of British Columbia; Co-founder and Distinguished Scientist, Terry Fox Laboratory, British Columbia Cancer Research Centre, Vancouver, Canada

Scientific Areas of Expertise: Mammary Cell Biology, Normal and Malignant Hematopoiesis, Stem Cells

For essential contributions to the development of functional methods to quantify and characterize hematopoietic, mammary, and cancer stem cells that are now considered benchmarks in the field, and for co-discovering quiescent malignant stem cells in chronic myeloid leukemia.

Denise A. Galloway, PhD

Scientific Director, Pathogen-Associated Malignancies Integrated Research Center; Professor, Human Biology Division; Professor, Public Health Sciences Division; Paul Stephanus Memorial Endowed Chair, Fred Hutchinson Cancer Research Center, Seattle, Washington

Scientific Areas of Expertise: Anogenital Cancers, Merkel Cell Carcinoma, Virology

For breakthrough studies involving human papillomavirus (HPV) and subsequent research that has contributed to the development of HPV vaccines, and for her seminal contributions to the understanding of pathogen-associated cancers, specifically HPV-induced cervical cancer.

Patricia A. Ganz, MD

Distinguished Professor of Health Policy and Management, Fielding School of Public Health; Professor of Medicine, David Geffen School of Medicine; Director, Center for Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California

Scientific Areas of Expertise: Cancer Survivorship, Health-related Quality of Life, Patient Reported Outcomes

For pioneering efforts to enhance cancer prevention and improve patient survivorship, quality of life, and the understanding of the late effects of cancer treatment, which have been essential to the evolution of clinical cancer care, particularly in the areas of psychosocial distress, cancer-related cognitive impairment, and post-treatment fatigue.

K. Christopher Garcia, PhD

Younger Family Professor; Professor of Structural Biology, Stanford University; Investigator, Howard Hughes Medical Institute, Stanford, California

Scientific Areas of Expertise: Immunology, Protein Engineering, Structural Biology

For world-renowned contributions to the fields of immunology and structural biology, defining the biophysical properties of receptor-ligand binding, and the visualization of protein complexes crucial to the understanding of the immune system and drug design, including the first structural view of a T-cell receptor bound to a peptide-MHC complex and for defining the crystal structures of several important immunoregulatory proteins, including interleukins and interferons.

Jennifer R. Grandis, MDAmerican Cancer Society Professor; Distinguished Professor of Otolaryngology-Head and Neck Surgery, University of California San Francisco, San Francisco, California

Scientific Areas of Expertise: Precision Medicine, Signal Transduction, Translational Research

For illuminating research on genomic alterations and key signaling pathways in head and neck cancer with the goal of enabling precision medicine studies.

James R. Heath, PhD

President and Professor, Institute for Systems Biology, Seattle, Washington; Professor of Molecular and Medical Pharmacology, University of California, Los Angeles, California

Scientific Areas of Interest: Biotechnology, Chemical Synthesis, Systems Biology

For pivotal contributions to the fields of biotechnology and cancer immunotherapy, bridging chemical synthesis and physics with biology to develop nanoscale technologies including single cell barcoding, the isolation of T cells recognizing neoantigens to generate novel T-cell therapies, and microfluidic chips for diagnostic purposes that provide an opportunity to stratify patients and analyze a patients antitumor response to drug treatment.

Nancy A. Jenkins, PhD

Professor of Practice, Department of Genetics, Division of Basic Science Research, The University of Texas MD Anderson Cancer Center, Houston, Texas

Scientific Areas of Expertise: Cancer Genetics; Insertional Mutagenesis, Mouse Models of Human Cancer

For pioneering contributions to cancer genetics and unrivaled efforts dedicated to establishing the Sleeping Beauty transposable element system to model human cancer in mice, a breakthrough that has since allowed for the identification of innumerable candidate genes responsible for tumors.

Thomas J. Kelly, MD, PhD

Benno C. Schmidt Chair of Cancer Research; Member, Memorial Sloan Kettering Cancer Center; Professor, Weill Graduate School of Biomedical Sciences, Cornell University, New York, New York

Scientific Areas of Expertise: DNA Damage and Repair, DNA Replication, Cell Cycle Control

For seminal discoveries that delineated the key principles governing the process of genetic replication and for developing the first cell-free DNA replication system capable of duplicating the complete genomes of viruses including SV40, effectively revolutionizing the cancer research field by creating a tool that allows for the identification and functional characterization of proteins and enzymes required for DNA replication.

Crystal L. Mackall, MD

Ernest and Amelia Gallo Family Professor; Professor of Pediatrics and Medicine, Stanford University School of Medicine, Stanford, California

Scientific Areas of Expertise: Cellular Immunotherapy, Pediatric Immuno-oncology, T cell Homeostasis

For pioneering contributions to the fields of pediatric oncology, immunology, and immunotherapeutics including the discovery of the role of IL-7 in T cell homeostasis, significant efforts to advance the use of CAR-T cell therapies, and for consistent and groundbreaking translational research dedicated to establishing novel treatments for pediatric cancer patients.

Alex Matter, MD

Chief Executive Officer, Experimental Therapeutics Centre, Agency for Science, Technology, and Research (A*STAR), Singapore

Scientific Areas of Expertise: Drug Discovery and Development, Molecularly Targeted Therapeutics, Precision Medicine

For unparalleled contributions to establishing personalized, anticancer therapeutics including his co-development of imatinib, the first tyrosine kinase inhibitor effective for the treatment of chronic myelogenous leukemia and beneficial when administered to patients with gastrointestinal stromal tumors or small cell lung cancer, research which has since provided the foundation for the development of numerous molecular targeted therapeutics.

Ira Mellman, PhD

Vice President of Cancer Immunology, Genentech Inc., South San Francisco, California; Professor, Department of Biochemistry and Biophysics, University of California, San Francisco, California

Scientific Areas of Expertise: Cancer Immunology, Dendritic Cell Biology, T Cell Biology

For essential contributions to cancer immunology including the elucidation as to how dendritic cells trigger immune reactions, illuminating the mechanisms of checkpoint inhibition, and defining the cellular underpinning of membrane trafficking by discovering endosomes, findings that have collectively informed the development of cancer immunotherapies and have had a profound impact on our understanding of cancer immunity.

Gordon B. Mills, MD, PhD

Wayne and Julie Drinkward Endowed Chair in Precision Oncology, Director of Precision Oncology, Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon

Scientific Areas of Expertise: Functional Proteomics, Systems Biology, Targeting Adaptive Responses in Cancer

For visionary efforts to advance precision medicine through genomics and systems biology, including seminal discoveries of the role of PI3K signaling in breast cancer and how alterations in this pathway contribute to tumor progression and therapeutic response, and for trailblazing the use of systems biology toward a personalized approach to breast cancer treatment.

Nikola P. Pavletich, PhD

Chair of Structural Biology, Memorial Sloan Kettering Cancer Center; Investigator, Howard Hughes Medical Institute, New York, New York

Scientific Areas of Expertise: Cell Cycle Regulation, Molecular Biology, Structural Biology

For pioneering the structural analysis of cancer-related proteins and pathways that has led to fundamental discoveries in the areas of cell cycle regulation and DNA-damage response, including his groundbreaking work on the crystal structure of the critically important P53 tumor suppressor protein bound to both DNA and the MDM2 oncoprotein.

Cecil B. Pickett, PhD

Former President, Research and Development, Biogen Idec Inc., Cambridge, Massachusetts

Scientific Areas of Interest: Drug Discovery and Development, Gene Expression

For instrumental research studies involving glutathione-S-transferases (GST) and for work related to cancer drug development, leading some of the earliest studies responsible for the cloning and characterization of GST genes, contributing to the understanding of the regulation of GST expression, and culminating with the discovery of antioxidant response elements.

Jennifer A. Pietenpol, PhD

Director, Vanderbilt-Ingram Cancer Center; Chief Scientific and Strategy Officer and Executive Vice President for Research, Vanderbilt University Medical Center; Benjamin F. Byrd Jr. Professor of Oncology; Professor of Biochemistry, Vanderbilt University, Nashville, Tennessee

Scientific Areas of Interest: Breast Cancer Research, Translational Molecular Genetics, Tumor Suppressors

For seminal contributions to the understanding of p53 protein family function (p53, p63, and p73) and triple-negative breast cancer (TNBC) including the development of techniques to analyze p53 family-chromatin binding, deciphering the p63 and p73 cistrome, discovering that p73 is required for multiciliogenesis and ovarian folliculogenesis, and integrating molecular genetics and bioinformatics to develop and implement novel analytical methods to molecularly subtype difficult-to-treat TNBC.

Terence H. Rabbitts, FRS, FMedSci

Professor of Molecular Immunology, Institute of Cancer Research, London, England, United Kingdom

Scientific Areas of Expertise: Chromosomal Translocations, Protein Engineering, Protein Macromolecule Delivery Mechanisms

For fundamental work involving the characterization of human antibody and T-cell receptor gene diversity and rearrangement, establishing cDNA cloning technology widely used in molecular biology, discovery of chromosomal translocation genes in cancer, and creating the first gene fusion knock-in mice, work that has led to the development of methods using intracellular antibodies for small molecule drug discovery applied to hard-to-drug targets including mutant RAS and LMO2.

Neal Rosen, MD, PhD

Enid A. Haupt Chair in Medical Oncology, Member, Program in Molecular Pharmacology and Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York

Scientific Areas of Expertise: Mechanism-based Combination Therapies, Mitogenic Signaling Pathways, Oncogene-induced Signaling Networks

For pioneering work dedicated to elucidating cell signaling mechanisms responsible for human cancers, identifying oncoprotein-dependent feedback inhibition of signaling networks as an important factor in tumor evolution and in the clinical response to targeted inhibitors, characterizing the functional classes of BRAF mutants, and developing numerous inhibitors of malignant transformation by targeting the RAS-RAF-MEK-ERK and PI3K-AKT-mTOR pathways.

Varda Rotter, PhD

Professor, Department of Molecular Cell Biology; Director, FAMRI Center of Excellence, Weizmann Institute of Science, Rehovot, Israel

Scientific Areas of Expertise: p53 Biology and Function, Molecular Biology, Tumor Suppressors

For unrivaled research efforts dedicated to understanding p53 biology including how this crucial protein, when mutated, contributes to the activation of specific target genes and oncogenic signaling pathways associated with tumor initiation, progression, and drug resistance; and for recent research focused on developing novel mutant p53-dependent small peptide therapies capable of modifying the confirmation of mutant p53 proteins into wild-type protein confirmations able to induce apoptosis.

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AACR announces Fellows of the AACR Academy Class of 2022 - EurekAlert

image:EQRx and Insilico partner to Advance AI-driven Discovery & Development of Multiple Targets view more

Credit: Insilico

New York, New York, March 24, 2022-- Insilico Medicine ("Insilico"), a clinical stage end-to-end artificial intelligence (AI)-driven drug discovery company, today announced it has entered into a strategic collaboration with EQRx, a company committed to developing and delivering innovative medicines to patients at radically lower prices.

The collaboration will combine Insilicos Pharma.AI platform to advance de novo small molecule design and generation with EQRxs clinical development and commercialization expertise. EQRx and Insilico will engage in a co-development partnership whereby each party will be eligible for a profit share proportional to its respective level of investment.

Pursuant to the collaboration agreement, the parties will identify and select up to three therapeutics targets leveraging Insilicos AI-driven platform, Pharma. AI. Insilico will lead the drug discovery from small molecule hit identification through lead optimization and preclinical candidate nomination to Investigational New Drug (IND) application. EQRx will assume responsibility for driving clinical development, regulatory activities and commercialization. Insilico has the option to invest in the product candidate(s) at various clinical development stages in return for increased commercialization profits.

Both EQRx and Insilico Medicine strive to accelerate the discovery and development of new medicines and make effective therapeutics more accessible and affordable. This partnership will combine our end-to-end AI-powered drug discovery capabilities with EQRxs innovative partnership model and expertise in clinical development and patient access to accelerate the discovery and development of innovative therapies said Alex Zhavoronkov, PhD, founder and CEO of Insilico Medicine.

We are pleased to partner with Insilico Medicine, a leader in AI-based drug discovery, said Carlos Garcia-Echeverria, PhD, chief of Rx Creation at EQRx. This collaboration will further expand our early-stage R&D efforts to fuel potential pipeline growth as we continue to apply the best of todays innovation in biomedical sciences and digital solutions to discover high-quality, innovative and more affordable medicines.

About Insilico Medicine

Insilico Medicine, a clinical stage end-to-end artificial intelligence (AI)-driven drug discovery company, is connecting biology, chemistry, and clinical trials analysis using next-generation AI systems. The company has developed AI platforms that utilize deep generative models, reinforcement learning, transformers, and other modern machine learning techniques to discover novel targets and to design novel molecular structures with desired properties. Insilico Medicine is delivering breakthrough solutions to discover and develop innovative drugs for cancer, fibrosis, immunity, central nervous system (CNS) diseases and aging-related diseases.

For more information, visit http://www.insilico.com.

For media inquiry, please contact media@insilicomedicine.com.

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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EQRx and Insilico partner to advance ai-driven discovery and development of multiple targets - EurekAlert

Getting the people right is as important for a start-up as having a sound idea and womens digital health company, identifyHer, has lined up a founding team with extensive experience in data analysis, disease prevention, sensor development, AI and womens health to develop a wearable tracker that can help manage life-disrupting menopausal symptoms.

Right now, 7.3 million women are going through menopause in Ireland and the UK and 3.7 million of them are suffering symptoms that negatively affect their lives, says identifyHer co-founder Heidi Davis. Treating the menopause relies on the symptom profile but there are currently no objective ways to quantify or track symptom frequency or severity.

identifyHer is using AI-enabled technology to personalise the management of menopausal symptoms and reduce the risk of disease in the future.

What is largely unknown is that the severity and frequency of vasomotor symptoms alone can increase the risk of cardiovascular disease, diabetes and osteoporosis.

Davis adds that self-reporting is not accurate at capturing how often a woman experiences a particular symptom, such as a hot flush, or how bad it is. Our tracker can provide the information women and clinicians need to personalise the management of their symptoms, she says.

We want women suffering with symptoms to be able to navigate the menopause with improved quality of life.

The idea for the tracker came out of a general interest in disease prevention before the founders decided to focus on unmet needs in womens health, starting with menopause. Prior to setting up identifyHer, Davis, whose background is in molecular medicine, was working in the field of peptide discovery using AI.

The identifyHer tracker, which can be used from perimenopause onwards, sits under the breast and is activated by an app. The wearer goes about their business as normal and they will get daily, weekly, and monthly reports on their menopausal symptoms and lifestyle data.

The woman will wear the sensor for three months to track her symptoms and the data collected during that time will be used to initiate treatment or to evaluate whether the treatment she is already on is working.

This data essentially provides a profile of each woman that can then be used to track menopausal progression and activate an individual symptom management plan, Davis says.

The trackers will be supplied by the womans GP or menopause clinic and the revenue model will be SaaS. However, the pricing structure is still a work in progress as the device is not due for launch until the third quarter of 2023.

identifyHer was formally established in October 2022 and now employs four people. To date, about 55,000 has been invested in the business which has been primarily self-funded while Davis is also quick to acknowledge the help given to the fledgling business by Analog Devices.

Their support has enabled us to get a prototype for initial data collection up and running at very low cost based on future sales potential, she says.

Davis has recently completed the New Frontiers programme at TU Blanchardstown and is now pushing ahead with a major fundraising drive. The company has been approved for Enterprise Ireland Competitive Start Funding and it is currently raising a pre-seed round of 700,000.

Ultimately, the company will be looking to raise about 4.5 million to fully commercialise the device which has global potential.

The tracker is still in development and at present the prototype is being used to gather a critical mass of proof-of-concept data. The company will launch initially in Ireland and the UK followed by the EU and the US.

Women go through menopause everywhere in the world and these women have been massively underserved by the historical bias in science and health that has seen them under-represented in clinical trials and underdiagnosed, particularly around menopause and its symptoms, Davis says.

Read more:
identifyHer aims to help women manage menopausal symptoms - The Irish Times

Published in Molecular Psychiatry, a team of scientists from the University of Minnesota Medical School, University of Texas Health San Antonio, and the Biomedical Research Institute (BRI) of the Foundation for Research and Technology Hellas (FORTH) in Greece found that the disruption of a circadian clock gene may be involved in the development of autism spectrum disorder.

Autism spectrum disorder, or ASD, refers to a neurodevelopmental disorder characterized by a wide range of behavioral conditions including challenges with social skills, repetitive behaviors, speech and nonverbal communication. According to the Centers for Disease Control and Prevention, ASD affects one in 44 children in the U.S.

About 50-80% of children with ASD have sleep problems, compared to less than 30% in the general population. The causes of sleep problems in ASD are not entirely clear, but a malfunctioning body clock could be the culprit.

It has long been recognized that the function of the body clock is frequently disrupted in autism patients and these patients often exhibit various sleep problems, said Ruifeng Cao, MD, PhD, an assistant professor of neuroscience at the U of M Medical School, Duluth Campus and co-author of the study. But, it is not known whether clock gene disruption can directly cause autism.

The study found that the disruption of an essential clock gene in preclinical models can lead to autistic-like phenotypes. Specifically, the global or cerebellar deletion of the Bmal1 gene can cause severe impairments in sociability, social communication and excessive repetitive behaviors.

The models also illustrated damages to their cerebellum or cerebellar ataxia. The research team further studied the pathological changes in the cerebellum and found a number of cellular and molecular changes that indicate neurodevelopmental deficits.

Clock gene disruption could be a mechanism underlying several forms of autism and potentially other neurodevelopmental conditions, and this finding paves the way for further exciting research, said Christos Gkogkas, PhD, a lab principal investigator in neurobiology at BRI of FORTH.

The research team plans to continue to study other clock genes that are found mutated in ASD. More importantly, they recommend development of novel therapeutic strategies based on their findings.

The study is supported by grants from the National Institute of Health and the Winston and Maxine Wallin Neuroscience Discovery Fund.

###

The research team consists of Drs. Harry Orr, Alfonso Araque, Paulo Kofuji, and Jonathan Gewirtz (now at Arizona State University) from the U of M Medical School; Dr. Victor Jin from UT Health San Antonio; and Dr. Christos Gkogkas from BRI-FORTH in Greece.

About the University of Minnesota Medical SchoolThe University of Minnesota Medical School is at the forefront of learning and discovery, transforming medical care and educating the next generation of physicians. Our graduates and faculty produce high-impact biomedical research and advance the practice of medicine. We acknowledge that the U of M Medical School, both the Twin Cities campus and Duluth campus, is located on traditional, ancestral and contemporary lands of the Dakota and the Ojibwe, and scores of other Indigenous people, and we affirm our commitment to tribal communities and their sovereignty as we seek to improve and strengthen our relations with tribal nations. For more information about the U of M Medical School, please visit med.umn.edu.

The Biomedical Research Institute of FORTHThe Biomedical Research Institute (BRI) of FORTH at Ioannina consists of 18 research teams that comprise 140 members. The groups of BRI work in basic molecular and cellular biology areas of biomedical research with high interest in public health and biomedicine, such as vascular biology, stem cell biology and regenerative medicine, cancer biology, neurobiology, and biomedical technology.

The Foundation for Research and Technology - Hellas (FORTH) is one of the largest research centers in Greece, comprising nine Research Institutes. FORTH conducts specialized scientific research in strategic high-added value sectors, focusing on interdisciplinary research and development (R&D) activities in areas of major scientific, societal and economic interest.

Molecular Psychiatry

Observational study

Animals

Autistic-like behavior and cerebellar dysfunction in Bmal1 mutant mice ameliorated by mTORC1 inhibition

17-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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Research Brief: Clock gene mutation found to contribute to the development of autism - EurekAlert

by Dr. Paras Singh

How is the Indian government fairing on the TB front? Tuberculosis is a critical health issue in our country. The WHO stated that India has the maximum number of TB cases in the world. A quarter of the global TB cases reside in India. As per the global TB report 2020 2,640,000 TB incidents were recorded within India, making us have the highest numbers of both TB and MDR TB.

In 2020, the Indian government stated that they aim to eliminate the disease by 2025 with the help of its National TB Elimination Program. This programs interventions are majorly around investments in healthcare and a tie-up of the government and the private medical infrastructure.

However only 10% of the people are having DRTB and all these prior efforts have yielded inadequate declines, and will not accelerate the progress towards ending TB. New, innovative diagnostic tools and smarter interventions can accelerate progress towards TB elimination. The lack of proper, affordable and accessible diagnostic tools has led people to settle for delayed or sub-optimal treatments while missing to cover a large number of patients.

Diagnostic molecular technology approved by WHO can play an effective moving towards TB elimination that has been integrated into the four strategic pillars of GOI mandate Detect Treat Prevent Build (DTPB).

Moreover, TB co-morbidities like Diabetes, HIV and tobacco-related problems have also been prioritised, and as close to 1 lakh patients with TB/HIV were put on a daily DOT routine around 5 lakh people were treated with preventive TB therapy. These interventions and strategies helped in lowering down TB fatalities by 82%.

DBT or Direct Benefit Transfer is a major reformation by the government, necessitating benefits targeted provisions of benefits to the patients through efficient technology usage. NIKSHAY, an online web-based and case-based application have been useful to give targeted deliveries to the citizens. The app makes the TB patients digitized database available and accessible nationally.

This app is further equipped to store bank details and other necessary information for DBT execution. The database is supported with PFMS also known as, Public Finance Management System for smoother benefits transfer into the beneficiaries accounts.

Many novel and innovative tools have been introduced by the collaborative effort of the government and the medical infrastructure. Wider usage of ICT tools and application health financing methodologies assures a rapid and accurate response while treating TB as an epidemic.

Another aspect that needs to be highlighted is the tie-up of the public and the private medical sector. RNTCP has ensured that the private laboratories provide an affordable service delivery under the revised NGO-PP schemes. This approach has brought together all the diagnostic tools LPA, CBNAAT, liquid culture DST under the single initiative called Promoting Affordable and Quality TB Tests. Also, the ICT-supported tools have helped in getting universal access to TB care. Getting notification from the private sector to the public sector. Response of public healthcare sector to all the people suffering from TB notified via private sector will come under the responsibility of public healthcare system. Patients support services like, adherence, comorbidity detection, drug susceptibility testing, infection prevention and social welfare support would be extended to the private healthcare facilities as well.

Periodic monitoring and upscaling high sensitivity diagnostic tests and algorithms. Improving the private service providers engagement will increase the affordability and accessibility of the diagnostic tools. Monitoring and supervision are non-negotiable in ensuring the achievement of the vision of TB Free India by 2025.

Dr. Paras Singh, Head & Specialist, Dept. of Molecular Medicine, National Institute of Tuberculosis and Respiratory Diseases, New Delhi

(DISCLAIMER: The views expressed are solely of the author and ETHealthworld does not necessarily subscribe to it. ETHealthworld.com shall not be responsible for any damage caused to any person / organisation directly or indirectly.)

Excerpt from:
How India is poised to eradicate TB with effective, accessible and affordable Diagnostic tools - ETHealthWorld

How much does a molecule weigh? Well, that depends.Molecules, like people, come in various shapes and sizes.

That difference in size can mean a lot for researchers in the ever-evolvingpharmaceutical industry. Molecular weight is a key component tomanufacturing it can actually be used to determine how effective a pharmaceutical drug is.

"Probably the single most important piece of information that you can get (from a mass) isits molecular weight How big is it? How heavy is it? Mass spectrometry is a very accurate way of measuring the masses of molecules," distinguished IU professor Martin Jarrold said.

Jarrold andfellow IU chemistry professorDavid Clemmer are the founders ofMegadalton Solutions, a start-up company whosetechnology has made a big splash in the measurement field.

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These two Indiana University chemistry professors developed a new, refined method to test the effectiveness of experimental pharmaceuticals. Some of these drugs, coined thenext-generation medicine, are projected to revolutionize the medical field.

"(The technology)just came along at the right time,"Jarrold told the Herald-Times.

Megadalton Solutions recently entered an exclusive licensing agreement withWaters Corporation, ananalytical laboratory instrument and software company. Waters was recently recognized as one of America's largest companies of 2021 by Fortune Magazine.

The technology, an IU-refinedtake on charge detection mass spectrometry (CDMS), will be usedto test the potency of newpharmaceutical drugs in the rapidly evolving field of gene-based therapies. This new wave of medicine can potentially prevent orprovide long-term treatment of certain genetic disorders.

Mass spectrometry converts the molecule into an ion, which can then be weighed on an instrument.

You might not recognize amass spectrometeroffhand, but you've definitely used one before if you've boarded a flight in the last 20 years. An airport'sdetector sensors are compact mass spectrometry instruments.These sensors are used as homeland security checks to identifyillegal drugs orexplosive compounds.

However, since the first mass spectrometer was invented in1912, the instrument has had limitations.

For objects with a light molecular weight, such as antibodies,scientists havea tried and true method of measurement known as conventional mass spectrometry. But for determining the weightof large, heavy molecules, it has historically been less like reading a number off a scale and more like that age-old weight guessing game typically seen at a county fair.These specific drugs, such as those being developed for gene therapy, can weigh over a million mass units.

"Whereas conventional mass spectrometry played a role in the development of the small-molecule drugs, it ran into this sort of fundamental problem with being able to measure the masses of the heavier, larger molecules that are being developed as drugs now," Jarrold said.

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For heavier molecules, scientists must use charge detection mass spectrometry. Jarrold and his team of collaboratorshave builta machine thatcan analyzelarge, complex molecules with an unprecedented level of accuracy and speed.

According to Jarrold, the idea for the technology was borne out of a desire for kinship.

When he first arrived at IU, Jarrold felt like an outsider. While his colleagues were discussing their work withviruses, his background was rootedin massspectrometry.

"I thought, 'Gosh, you know, wouldn't it be cool if we could start weighing viruses and I'd have all these collaborators that I could work with and feel as thoughI was a member, instead of somebody on the outside,'" Jarrold recalled.

This led him to a scientific discovery, aided by several colleagues and students throughout the years.

According to Jarrold, he has spent close to a decade on the technology, tinkering in the IU chemistry building. The machine has been viable for five years now and Jarrold and others at IU continue to refineit for commercial use.

IUs Innovation and Commercialization Office madeefforts to patent a lot of the technology that helped secure thecorporatepartnership. Dan McNerny, a technologycommercialization manager in the office, has worked with Jarrold for several years on the business side.

"I did not need to be sold on it," McNerny said.

Before his current position,McNerny was a researcher who hadlooked into manufacturing therapeutics, where something like Jarrold's technology would have made a big difference.

"Ultimately why my project failed is because we could never actually determine what was in the mixtures that we were creating. We would tryto find how heavy it was and the result was you'd get a blob back,"McNerny said.

The technology can have various applications in the medical industry, such as analyzing vaccines or lipoproteins incardiovascular diseases.

"There's awhole slew of these large objects, which have not previously been accessible to accurate mass measurements, that cannow be analyzed," Jarrold said. "The sort of drug that CDMS really is having an impact in the area is gene therapy, which is really sort of revolutionizing medicine at the moment."

Waters Corporationhas indicated that Megadalton Solutions' technology will be further developed foruse in gene therapies.

Gene therapyis a new medical approach that can treator even preventcertain diseases by correcting the underlying genetic problem, either throughreplacing a faulty gene or addinga new one.Gene therapy has the potential of being a new form of treatmentfor a wide range of diseases, such as cancer, cystic fibrosis, diabetes and AIDS.

"Many of these genetic diseases, which are like death sentences for people that have them, can now be fixed," Jarrold said.

Currently, gene therapy can only treatmonogenic disorders, whicharecaused by variation in a single gene. Some examples of monogenic disorders include sickle cell anemia, cystic fibrosis andHuntington's disease.

"In the future, you can anticipate that the multiple gene ones can also be fixed as time goes on," Jarrold said.

Jarrold estimates that there areover 200 new gene- and cell-based therapy drugscurrently in the development research pipeline.

During development, pharmaceutical manufacturersmust verify there are no errors in the final product. Empty capsules could reduce the drug's potency. In a worst case scenario, it could even lead toharmful mutated genes. That's why technology such as Jarrold's CDMS is crucial in these preliminary stages.

Jarrold said he plans to continue working with Waterson the technology to improveits accuracy and performance. Once fully developed, the machines could appear in laboratories around the world.

"This could really lead to new and unexpected discoveries because nobody's measured the masses of these very large things with very high resolution," Jarrold said. "That area itself is like a complete unknown as to what we might find there. There could be some very interesting science there."

Contact Rachel Smithat rksmith@heraldt.com or @RachelSmithNews on Twitter.

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Indiana University-developed tech could lead to a revolution in medicine. Here's how. - The Herald-Times

Amid a growing COVID-19 surge occurring overseas, there are renewed concerns among health officials in the United States that the spread of the highly transmissible omicron subvariant BA.2, combined with waning vaccine immunity and the decision to end masking recommendations, could cause the country to face yet another viral resurgence.

"What we're seeing in Europe, and particularly in the U.K., is something we really need to pay attention to because they are starting to see a reversal and a resurgence of cases," Dr. Anthony Fauci, chief medical adviser to the White House, told "GMA3" on Friday. "So even though our cases are continuing to come down, I would not be surprised if in the next couple of weeks ... that we might well see an increase in cases."

The Centers for Disease Control and Prevention estimate that 23.1% of new cases in the U.S. are BA.2. Studies estimate that BA.2 is between 30% and 80% more infectious than the original strain, and federal data shows its presence in the U.S. is nearly doubling every week.

There are already initial indicators that the nation may be on the brink of an uptick as the nation begins to see a plateau in infection and hospitalization rates, which were previously declining.

A syringe is prepared with the Pfizer COVID-19 vaccine at a vaccination clinic at the Keystone First Wellness Center in Chester, Pa., Dec. 15, 2021.

Earlier this week, wastewater data shared by the CDC revealed that between Feb. 24 and March 10, 37% of wastewater sites monitored by the CDC have seen an increase of 100% or more of the presence of the COVID-19 virus in their wastewater. Approximately 30% of these sites have seen an increase of 1,000% or more

Nationwide, new data shows that COVID-19-related hospitalizations appear to also be plateauing following weeks of steady decline. Over the last two months, hospitalization levels had been dramatically falling, but over the last week those daily declines have become steadily smaller.

Virus-related hospitalizations now stand at about 23,000 patients, according to federal data.

"You just got over a wave of the most transmissible #SARSCoV2 variant the world has seen, with the highest level of hospitalizations in the pandemic," Dr. Eric Topol, professor of molecular medicine at Scripps Research, said in a tweet on Thursday. "Now you are facing a variant [with] 30% more transmissibility, [without] mitigation measures, low [vaccination] coverage, and gutting funding."

CDC Director Dr. Rochelle Walensky said Thursday that she too anticipates there could be an increase in new virus cases in the U.S. as BA.2 spreads, warning that it is "certainly ... possible" that mask recommendations will have to be reimplemented.

"We want to make sure that people have an opportunity to relax their mitigation strategies when things are good, as they are right now," Walensky said during a panel discussion with the Bipartisan Policy Center.

A woman reads directions before giving her daughter a COVID-19 antigen rapid test at home in Washington, Jan. 9, 2022.

"But then, they should put that mask in a drawer, because if we have more cases that occur in the winter time, if we have more cases that occur because of a new variant, we want to make sure that people have the opportunity to take those masks off, so that we can re-implement them and protect people, should we need them again," she added.

Officials are closely monitoring the viral resurgence occurring overseas, Walensky said, and looking for clues as to what it might foreshadow for the crisis in the U.S.

However, overseas, similar to the previous omicron surge, there are hopeful signs that should there be a resurgence, intensive care units and morgues will not be as overwhelmed as in past surges. In the U.K., ICU capacity has yet to see a notable increase, which experts say could ultimately prevent a significant spike in virus-related deaths.

"Their intensive care bed usage is not going up, which means they're not seeing a blip up of severe disease," Fauci told ABC News' Brad Mielke on the podcast "Start Here," in an interview that aired Friday, adding that officials in the U.K. have not reported an increase in severity due to the BA.2 subvariant.

The best way to evade a significant surge will be to get vaccinated and boosted, Fauci said.

Earlier this week, the CDC released data showing that vaccines are still dramatically reducing the risk of hospitalization or dying from COVID-19.

A registered nurse steps out of an isolation room at the Dartmouth-Hitchcock Medical Center, in Lebanon, N.H., Jan. 3, 2022.

In January, unvaccinated adults were nine times more likely to die of COVID-19, compared to vaccinated individuals, and six times more likely to require hospitalization. Unvaccinated adults were about 21 times more likely to die of COVID-19 in January, and 12 times more likely to require hospitalization, compared to fully vaccinated and boosted adults.

Although breakthrough COVID-19 infections surged during the omicron wave in February, unvaccinated adults were still 2.8 times more likely to test positive for COVID-19 compared to fully vaccinated individuals, and 3.2 times more likely to test positive compared to fully vaccinated and boosted adults.

Experts say Americans must be flexible and willing to take on the future challenges that may present themselves as we move into the next phase of the pandemic.

"We're not done with this pandemic as much as we all wish. We are not," newly named White House COVID-19 coordinator Dr. Ashish Jha said during an appearance on "Good Morning America" Friday. "Whatever the pandemic throws at us, we have got to be ready for it."

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Fears of COVID-19 resurgence in the US grow as officials warn of potential upticks - ABC News

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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