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  • Contains 1 Component(s) Includes a Live Web Event on 07/28/2022 at 1:00 PM (EDT)

    In this webinar, we will introduce the cloud resources available to educators through the NHGRI AnVIL for teaching basic genomics with hands-on exercises, and we will demonstrate usage through short topical use cases.

    The shift of biomedical data and computational tools to the cloud is opening new opportunities for research-grade resources to be accessible by a wide range of audiences, including students, regardless of their institute’s computational infrastructure. Educators can now leverage these exciting cloud data and tools to make basic genomics concepts and applications more tangible to students. 


    While the growth of cloud-based resources is an exciting development for experienced researchers, using such resources to create educational materials requires dedicated effort. Educators need to know how the cloud products and platforms work together, and how to make use of these resources for their teaching objectives. The aim of this webinar is to support educators by demonstrating how they can find and use cloud-based tools and data to build exercises for their students, and helping them fit these resources into a curricular structure. 


    This webinar explores how educators can apply the NHGRI Analysis Visualization and Informatics Lab-space (AnVIL) to their genomics curriculum. It will showcase different cloud platforms and tools for bioinformatic analysis like Terra, Dockstore, Jupyter Notebooks, and Galaxy. Participants will learn how to find open-source example datasets in the cloud that match teaching needs and how to make those datasets accessible to students so that they can explore different genomic concepts like sequencing formats, whole-genome analysis, and gene expression analysis. 


    Participants will walk away with teaching examples they can use as templates for their own course. The skills participants will learn in this webinar will extend to other scientific use cases, datasets, and tools beyond the examples shown. 


    Overview of Presentation

    • Select open-source example data and make it accessible to students through AnVIL         
    • Identify educational resources they can use as building blocks for a course           
    • Design hands-on exercises using AnVIL features to teach basic genomics

    Geraldine Van der Auwera

    Director of Outreach and Communications

    The Broad Institute of MIT and Harvard

    Dr. Geraldine Van der Auwera directs outreach and communication efforts for the Data Sciences Platform at the Broad Institute. As part of that role, she serves as an educator and advocate for researchers who use DSP software and services including GATK, the Broad's industry-leading toolkit for variant discovery analysis; the Cromwell/WDL workflow management system; and Terra.bio, a cloud-based analysis platform that integrates computational resources, methods repository and data management in a user-friendly environment. She is the co-author of Genomics in the Cloud, a book published by O'Reilly Media and available at https://oreil.ly/genomics-cloud.

     

    Dr. Van der Auwera received her Ph.D. in Biological Engineering from the Université catholique de Louvain (UCL) in Louvain-la-Neuve, Belgium in 2007, and trained as a postdoctoral fellow in the Kolter lab at Harvard Medical School, Department of Microbiology.

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  • Contains 1 Component(s) Includes a Live Web Event on 07/13/2022 at 12:00 PM (EDT)

    Maria A. Nieves-Colón, PhD, discusses their recent AJHG paper.

    Maria A. Nieves-Colón, PhD, and Andrés Moreno-Estrada, PhD, will discuss the results of a study investigating genetic factors associated with preeclampsia amongst altitude resident families in the Andean Highlands.

    Overview of Presentation

    • Preeclampsia is a hypertensive complication of pregnancy that is a major cause of maternal-infant morbidity and mortality worldwide.
    • Risk for developing preeclampsia increases amongst high altitude resident populations.
    • This study investigated genetic factors underlying preeclampsia among a sample of case and control Andean Highlander family trios.
    • Our analyses found associations between preeclampsia and common genetic variants within clotting factor genes, suggesting that irregular coagulation may play a role in preeclampsia risk at high altitudes. 
    • These variants are candidates for future replication and functional validation in other Latin American or high-altitude resident cohorts

    Maria A. Nieves-Colón

    Assistant Professor of Anthropology

    University of Minnesota Twin Cities

    Dr. Maria A. Nieves-Colón is assistant professor of Anthropology at the University of Minnesota Twin Cities and principal investigator of the Anthropological Genetics Laboratories. Her research uses genomics to investigate human population history in the Caribbean and Latin America. She obtained her undergraduate degree in Anthropology and History of the Americas at the University of Puerto Rico-Rio Piedras, and her masters and PhD in Evolutionary Anthropology from the School of Human Evolution and Social Change at Arizona State University. Prior to her current appointment she was a National Science Foundation Postdoctoral Scholar at the National Laboratory for the Genomics for Biodiversity in Guanajuato, Mexico; and a Senior Scientist at Astrea Forensics in Santa Cruz, California. 

    Andrés Moreno-Estrada

    Principal Investigator

    Advanced Genomics Unit (UGA-Langebio)

    Dr. Andrés Moreno-Estrada is principal investigator of the Human Evolutionary and Population Genetics research group at the National Laboratory for the Genomics for Biodiversity in Guanajuato, Mexico. His research uses genomic data and computational tools to understand demographic and evolutionary processes shaping human genetic diversity, with a special focus on the Americas and the Pacific. He completed his undergraduate medical training at the University of Guadalajara School of Medicine, received a PhD in Evolutionary Biology and Population Genetics from the Pompeu Fabra University in Barcelona, Spain, and subsequently was a postdoctoral researcher in the Department of Genetics at the Stanford University School of Medicine. Dr. Moreno-Estrada is currently the co-chair of the International Common Disease Alliance (ICDA) Global Equity Working Group.

    Bruce Korf, MD, PhD (Moderator)

    Editor-in-Chief

    American Journal of Human Genetics

    Chief Genomics Officer, UAB Medicine 
    Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB

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  • Contains 1 Component(s)

    This webinar, the second in a series, will explore high-level approaches to managing multiple projects, multiple roles, and dynamic biomedical science careers with ASHG member experts and a certified coach/facilitator in the area of professional and career development.

    This webinar, the second in a series, will explore high-level approaches to managing multiple projects, multiple roles, and dynamic biomedical science careers with ASHG member experts and a certified coach/facilitator in the area of professional and career development. 

    In this webinar, attendees will learn about:

    • Challenges associated with managing multiple projects and clarifying which projects to pursue.
    • Crafting practical project timelines and working with collaborators to get the projects done.
    • Taking the time to incorporate milestones, inflection points, and go/no-go decisions into your research plans
    • Communicating regularly with your advisor/thesis committee/team members about your progress, even if they are non-responsive
    • Having the confidence to not wait for leadership opening to come your way and how to impact a team or project even when you have no authority or decision-making power.
    • Creating opportunity including getting buy-in, multi-institutional support, and funding.
    • Avoiding burnout with a focus on prioritizing projects and streamlining your contributions.

    Future webinars in the series will take a deep dive into specific work-life balance topics like parenting, networking, career choices, and remote working, based on what attendees’ say they want to hear about the most. Join us as we explore the necessary art of balancing your science with your personal life in this new age of work. 

    This webinar series is available to current ASHG members only. Please join or renew your membership today to register for the event.

    Hannah Wand, MS, CGC

    Director of the Preventive Genomics Program

    Stanford Healthcare

    Hannah Wand, MS, CGC- Hannah is the director of the Preventive Genomics Program at Stanford Healthcare and a genetic counselor in preventive cardiology. She is a PhD candidate in Translational Health Sciences and her research focuses on equitable implementation methods and community co-design for population genetics programs. In addition, she leads several working groups with the National Society of Genetic Counselors and previously served as a program manager with the ClinGen consortium.  

    Lisa Hanasono, PhD

    Associate Professor in the School of Media and Communication

    Bowling Green State University

    Dr. Lisa Hanasono is an associate professor in the School of Media and Communication at Bowling Green State University, and she is the National Center for Faculty Development and Diversity’s (NCFDD) Academic Director of Training and Content. As a communication scholar, she focuses primarily on how institutions of higher education, academic leaders, and individuals can stop discrimination, reduce inequities, and support the career advancement of minoritized faculty.  In addition to publishing her research in peer-reviewed journals and delivering keynote presentations and faculty development workshops across the United States, she is currently a Co-PI of a nearly $1 million NSF ADVANCE Adaptation grant that examines how inclusive leadership, allyship, and institutional transformations can reduce social biases and support the career advancement of minoritized faculty in STEM disciplines.  

    Danjuma Quarless

    Associate Director

    AbbVie Ventures

    Danjuma Quarless is an Associate Director and a member of the AbbVie Ventures team in AbbVie's Division of Corporate Strategy. AbbVie Ventures strategically invest in transformational scientific opportunities to augment our core R&D interests and gain access to next-generation science and proven scientific leaders. 
    Before pursuing corporate strategy, Danjuma was a Senior Scientist in the Genomics Research Center (GRC) in AbbVie's Discovery division, where he worked as a computational biologist. Prior to joining AbbVie in 2017, he earned a Ph.D. in biomedical sciences from the University of California, San Diego.
    Danjuma is recently earned his M.B.A from the Kellogg School of Business at Northwestern University. He holds undergraduate mathematics and computational biology degrees from Whitworth University in Spokane, Washington.

    Latrice Landry, MS, PhD, MSC (Moderator)

    Genomic Medicine Fellow

    Harvard Medical School

    As a clinical geneticist, epidemiologist and nutritionist, Dr. Landry is focused on the engineering of equity-based systems for clinical integration of biomarkers with a keen focus on genomic and nutrition related biomarkers, in the translation, evaluation, optimization, and implementation of technologies in diverse populations and is helping to lead equity and disparities research in the field of precision medicine and public health. Paragraph Latrice Landry is an instructor specializing in developing systems-based approaches to achieving equitable translation of precision medicine and precision public health.

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  • Contains 1 Component(s)

    Alexandre Bolze will discuss their recent HGGA paper.

    Alexandre Bolze, PhD, will discuss their study to identify genetic factors that help explain interindividual differences in reactions following COVID-19 vaccination. Results of the study show that the HLA-A*03:01 allele was associated with more side effects following vaccination with Pfizer-BioNTech BNT162b2 vaccine. The study of the genetics of response and of reactions to different vaccines could be used to better understand the immune response following vaccination and improve future vaccine design.

    Overview of Presentation

    • Vaccination side effects and other COVID-related phenotypes were collected by online surveys sent to individuals in the United States previously sequenced, including participants in the Healthy Nevada Project.
    • A minority of individuals have severe difficulties with daily routine following COVID-19 vaccination. Replication of known risk factors: younger age, female sex and a personal history of COVID-19 prior to vaccination.
    • GWAS identifies HLA region associated with strong side effects after COVID-19 vaccination.
    • HLA-A*03:01 association is specific to vaccine type.
    • Analysis of four local and 20 systemic symptoms showed that HLA-A*03:01 was most strongly associated with increased risk of fever and chills after receiving the vaccine.

    Alexandre Bolze, PhD

    Senior Staff Scientist

    Helix

    Dr. Alexandre Bolze is a senior staff scientist at Helix. He did his Ph.D. at the Rockefeller University in New York, in the laboratory of Human Genetics of Infectious Diseases, and completed a postdoctoral fellowship at the University of California San Francisco. During his training, he discovered the genetic cause of Isolated Congenital Asplenia, a condition where patients are born without a spleen and are predisposed to life-threatening bacterial infections. At Helix, Alexandre studied the impact of rare and common variants in different diseases including mitochondrial disorders, maturity-onset diabetes of the young and hereditary cancer. His interest in genomic medicine and infectious diseases led to his current work to identify genetic factors involved in differences in immune response following vaccination, as well as differences in common side effects or rare adverse events following vaccination.

     

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  • Contains 1 Component(s)

    Human genetics and genomics drives discovery and new applications across all facets of research, medicine, and society.

    Human genetics and genomics drives discovery and new applications across all facets of research, medicine, and society. How do you discuss these advancements with your neighbors, community, or general public? This webinar provides experiences, lessons, and best practices from your peers to support ASHG members who want to begin or supplement discussions with the public to translate their research. 

    • Identify common obstacles when sharing research with public audiences  
    • Provide resources to navigate obstacles when talking to the public
    • Connect this work with the benefits to both you as a scientist and the public 

    Michael Anton Bauer, PhD

    Bioinformatician, Assistant Professor

    Department of Biomedical Informatics at the University of Arkansas for Medical Sciences

    Michael Bauer is an assistant professor in the Department of Biomedical Informatics at the University of Arkansas for Medical Sciences. He obtained duel bachelor of science degrees in computer science and biology at New Mexico Institute of Mining and Technology. He then went to the University of Arkansas Little Rock and obtained his Masters and PhD in Bioinformatics. He specializes in the use of extremely large heterogeneous datasets, coined as Big Data. His work focuses specifically on furthering the understanding of cancer biology with the inclusion of multiple types of molecular data. These data types include epigenetic information, whole genome and RNA sequencing and combining these genomic modalities to get a more complete picture of the cancer biology. Recent work has involved investigating the largely unexplored process of alternative splicing of mRNA and long noncoding RNA and their role in Multiple Myeloma. In addition to research, he feels that it is important include public outreach and public education as part of his activities. An informed public about cancer genetics and genetics in general can better advocate for their own health and request cutting edge diagnostic tests and treatment. He believes this is one way to combat health disparities. In his free time, he is playing his 21st season of rugby for the Little Rock Rugby Club.

    Arvind Kothandaraman, MBS

    Managing Director, Specialty Diagnostics

    PerkinElmer. Inc.

    Arvind Kothandaraman is the Managing Director of Specialty Diagnostics at PerkinElmer. His primary interest is in equipping clinical laboratories with the tools needed to meet their technical and operational goals. Prior to PerkinElmer, Arvind held positions at Thermo Fisher Scientific, BioReference Laboratories and Advanced Analytical Technologies. Arvind holds a Master’s degree in Science and Business from the Claremont Colleges in California, USA.

    Kenneth Ramos, MD, PhD (Moderator)

    Professor of Translational Medical Sciences Alkek Chair of Medical Genetics Executive Director

    Institute of Biosciences and Technology Associate Vice President for Research Assistant Vice Chancellor for Health Services, Texas A&M University System

    Kenneth S. Ramos, MD, PhD is an accomplished physician-scientist with designations in the National Academy of Medicine and National Academy of Sciences. He is a transformational leader recognized throughout the world for his scientific contributions in the areas of genomics, precision medicine and toxicology.

    With formal training in pharmaceutical sciences, chemistry, biochemistry, pharmacology, and medicine, Dr. Ramos is helping to steer the changing landscape of medicine, biotechnology and healthcare. In this context, he leads several translational, clinical research, and educational programs that integrate diverse approaches to elucidate genomic mechanisms of disease and to develop novel therapies for several oncologic, pulmonary, and vascular diseases.
    Dr. Ramos has provided academic, executive, administrative, and scientific leadership in the areas of genetics and genomic medicine and toxicology at various academic institutions and over the course of his career has positively influenced the career of numerous clinicians and scientists engaged in medical, veterinary and pharmaceutical practice. He is deeply committed to initiatives that advance modern technological applications to improve quality of healthcare and reduce disease burden and health-associated costs.

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    Chiara Auwerx discusses their recent AJHG paper.

    Chiara Auwerx will discuss the role of individual CNVs and the total CNV burden on modulating over 50 medically relevant complex trait in the UK Biobank. Results of the study expose the pleiotropy and polygenicity of CNVs and highlight the complex and nuanced role of this mutational class at odds with the classical dichotomy between common diseases and Mendelian disorders.

    Overview

    • Call CNVs from genotyping microarray data in the UK Biobank.
    • Perform CNV-GWAS between the copy number state of CNV-proxy probes and 57 medically relevant complex traits.
    • Identify 131 independent CNV-trait associations across 47 phenotypes.
    • CNVs signals colocalize with SNP-GWAS signals and Mendelian disorder loci.
    • Total CNV burden negatively impacts health, socio-economic status, and longevity.
    • Data suggest a polygenic CNV architecture for many assessed traits.


    Chiara Auwerx, MS

    PhD candidate

    University of Lausanne

    Chiara Auwerx obtained a Bachelor (2017) and Master (2019) degree in biology from the Eidgenössische Technische Hochschule (ETH) Zürich (CH). She completed her Master thesis in Prof. Coleen Murphy’s group at Princeton University (US), where she investigated the effect on short-term memory of the loss-of-function of novel Alzheimer’s disease candidate genes in C. elegans. In 2020, she started a PhD in human statistical genetics under the supervision of Profs. Zoltán Kutalik and Alexandre Reymond at the University of Lausanne (CH). She has since been investigating the role of copy-number variants in shaping complex traits and common diseases in the general population. In 2021 she was awarded the Young Investigator Award (Lodewijk Sandkuijl) for the best talk in complex disease genetics and statistical genetics at the European Society of Human Genetics Conference. 

    Alexandre Reymond, PhD

    Director

    Center of Integrative Genomics, University of Lausanne

    Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group. He joined in 2000 the Department of Genetic Medicine and Development, University of Geneva Medical School. He moved to the Center for Integrative Genomics in October 2004 and became its Director in 2015. He is the Vice-President of the European Society of Human Genetics and the Chair of its Scientific Program Committee.

    Zoltán Kutalik, PhD

    Principal investigator

    Statistical Genetics Group, University of Lausanne

    Zoltán Kutalik is a statistical geneticist, associate professor at the University of Lausanne, heading the Statistical Genetics Group. His main research interest lies in developing statistical methods integrating various omics data in order to better understand the genetic architecture of complex human diseases. He is a council member of the Swiss Institute of Bioinformatics (SIB), scientific programme committee member of the ESHG, EMGM, BC2, ISCB conferences and evaluation committee member of the Swiss National Science Foundation (SNSF). Zoltan is on the advisory board of the LongITools EU project, science council member of the Health 2030 Genome Center, an editorial board member of PLoS Genetics, Human Molecular Genetics and EJHG. He won the Early Career Bioinformatician Award of the SIB, the Investigator-in-training award of the University of Lausanne and shared the Leenaards Prize. He published over 180 peer-reviewed articles (>40,000 citations, h-index >80) in international scientific journals. 

    Bruce Korf, MD, PhD (Moderator)

    Editor-in-Chief

    American Journal of Human Genetics

    Chief Genomics Officer, UAB Medicine 
    Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics UAB

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    Laura Schultz, PhD, discusses their recent HGGA paper.

    Laura Schultz, PhD, will discuss the surprising lack of consistency between polygenic scores (PGS) computed from subsequent generations of consortia-produced discovery GWAS for height, post-traumatic stress disorder, and type-2 diabetes.  For a given trait, PGS are only modestly correlated at the level of the individual subject, and different individuals are identified at the upper quantiles of the PGS distributions.

    Overview of Presentation

    • PGS calculated from pairs of same-ancestry discovery GWAS show only modest correlation with each other despite there being near-perfect genetic correlation between the discovery GWAS.
    • A series of height GWAS in the UK Biobank suggests that correlation between PGS is strongly dependent on the extent of sample overlap between the discovery GWAS.
    • Focusing on the upper tail of the PGS distribution, different discovery GWAS do not consistently identify the same individuals.  The degree of overlap decreases sharply as higher quantiles, less heritable traits, and different-ancestry GWAS are considered.
    • PGS computed from different discovery GWAS have only modest correlation at the individual level, underscoring the need to proceed cautiously with integrating PGS into precision medicine applications.

    Laura Schultz

    Data Scientist

    Department of Biomedical and Health Informatics at the Children's Hospital of Philadelphia (CHOP)

    Dr. Laura Schultz is a Data Scientist in the Department of Biomedical and Health Informatics at the Children's Hospital of Philadelphia (CHOP) who is also affiliated with the Lifespan Brain Institute (LiBI) at CHOP and the University of Pennsylvania. She earned her A.B. in psychobiology from Ripon College and her Ph.D. in psychology and neuroscience from Princeton University, and she completed a postdoctoral fellowship in computational neurobiology at the Salk Institute for Biological Studies.  After a previous career teaching statistics at Rowan University, she earned an M.S. in Analytics from the Georgia Institute of Technology and joined Laura Almasy's statistical genetics research group.  In addition to contributing statistical computing expertise to a wide range of collaborative projects at CHOP, LiBI, and beyond, she is interested in developing new methods for analyzing genomic data.

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    This webinar, the first in a series, will explore high-level approaches to finding work-life balance with ASHG member experts and a full-time career coach.

    COVID-19 has disrupted scientific workplaces and the way in which we work. With return-to-work efforts ramping up, what does work-life balance look like now? 

    This webinar, the first in a series, will explore high-level approaches to finding work-life balance with ASHG member experts and a full-time career coach. 

    Future webinars in the series will take a deep dive into specific work-life balance topics like parenting, networking, career choices, and remote working, based on what attendees’ say they want to hear about the most. Join us as we explore the necessary art of balancing your science with your personal life in this new age of work. 

    This webinar series is available to current ASHG members only. Please join or renew your membership today to register for the event.

    Jim Gould, PhD

    Director of the Office for Postdoctoral Fellows

    Harvard Medical School

    Dr. Gould is the Director of the Office for Postdoctoral Fellows as well as the Program Director for the Responsible Conduct of Research course at Harvard Medical School. He has been implementing research, career, and professional development programs and policies for HMS trainees since 2011. He has spoken and published on career and professional development topics in a variety of forums, locally and nationally, including articles covering CV to resume conversion, interviewing strategies, and manuscript writing. Prior to HMS, Dr. Gould completed two postdoctoral fellowships at the National Cancer Institute of the National Institutes of Health where he chaired the Fellows & Young Investigators Association.

    Marylyn Ritchie, PhD, FACMI

    Professor of Genetics and Director of the Institute for Biomedical Informatics

    University of Pennsylvania School of Medicine

    Dr. Marylyn D. Ritchie is a Professor of Genetics and Director of the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine. She is also Associate Director of the Penn Center for Precision Medicine, Director of the Center for Translational Bioinformatics, and Co-Director of the Penn Medicine BioBank.  Dr. Ritchie is an expert in translational bioinformatics, with a focus on developing, applying, and disseminating algorithms, methods, and tools integrating electronic health records (EHR) with genomics. Dr. Ritchie was appointed as a Fellow of the American College of Medical Informatics (ACMI) in 2020 and was elected as a member of the National Academy of Medicine in 2021. She is also the host of two podcasts: she co-hosts The Biomedical Informatics Roundtable podcast with Dr. Jason Moore and she is the solo host of The CALM Podcast: Combining Academia and Life with Marylyn.  

    Nadya Ali, MD

    Manager, Global Medical Information

    Seagen Inc.

    Dr. Nadya Ali is a Global Medical Information Manager and lead for a recently approved cervical cancer antibody-drug conjugate drug at Seagen, Inc., a biopharmaceutical company. Previously, she collaborated with Dr. Latrice Landry on a population-based research project focused on exposing racial disparities in biomarkers for diseases in early and late phase immunotherapy clinical trials. As the 2016/2017 United States Surgeon General David E. Satcher, M.D., Ph.D. Research Fellow, Dr. Ali analyzed two nationally used genomic catalogues to assess the goals of President Barak Obama’s Cancer Moonshot Initiative. Additionally, she completed research at the Harvard Medical School Center for Biomedical Informatics, Laboratory for Personalized Medicine, and evaluated the accuracy of a breast risk prediction model supported by the National Cancer Institute, on a simulated US patient population. 

    Lucia Hindorff, PhD, MPH (Moderator)

    Lead Extramural Training Program Director

    NHGRI

    Dr. Lucia Hindorff is the extramural lead for training programs in the Office of Training, Diversity and Health Equity (TiDHE) at NHGRI. Previously, she led NHGRI programs at the intersection of diversity and genomic medicine, including the Clinical Sequencing Evidence-Generating Research (CSER) program, the Population Architecture using Genomics and Epidemiology (PAGE) program, the online NHGRI-EBI GWAS Catalog, and the Polygenic Methods in Diverse Populations (PRIMED) consortium. She has authored or co-authored over 100 publications and enjoys working with trainees and experienced investigators alike. In addition to her extramural portfolio, Dr. Hindorff is broadly interested in characterizing and improving health information disparities and in coaching to build strong and diverse teams. She is a member of the ASHG Career Development Committee and co-hosts its Trainee Paper Spotlight podcast.

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    Dr. Roger Reeves discusses their recent AJHG paper.

    This month's presentation is on the recent AJHG paper, “A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features." Attendees will have the opportunity to ask questions in a live Q&A session. 

    Overview of Presentation

    • Trisomy 21 is among the most complex genetic challenges to development and function
    • Animal models are essential to understanding mechanisms underlying divergent features
    • New models provide improved genetic representation and expand opportunities for preclinical studies

    To read the full paper, check the Journal Paper tab.

    Roger H. Reeves, PhD

    Professor Emeritus

    Johns Hopkins University School of Medicine

    Dr. Roger Reeves is Professor Emeritus in the Department of Physiology and the McKusick-Nathans Department of Genetic Medicine at the Johns Hopkins University School of Medicine. He earned his B.S. from Bowling Green State University in Ohio and his Ph.D. at University of Maryland, doing his thesis research at the National Cancer Institute. He is noted for his contributions to development of animal models to understand pathogenesis and variable expression of Down syndrome features. His lab demonstrated a biological basis for the reduced frequency of solid tumors in people with trisomy 21; provided direct evidence disproving a “critical region” for Down syndrome; and established a reduced response to effects of the SHH growth factor as a major contributor to several features of Down syndrome. Patient-based studies uncovered genetic modifiers predisposing to congenital heart disease in DS and in the population at large, and support for the development of a Cognitive Test Battery that can be used to monitor effectiveness of drugs designed to ameliorate cognitive dysfunction specific to people who have trisomy 21. Recognition for his efforts includes the Int’l. Sisley Lejeune prize for research in intellectual disabilities.

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    Dr. Genevieve Wojcik will discuss the role of social determinants of health in genetic epidemiology.

    Dr. Genevieve Wojcik will discuss the role of social determinants of health in genetic epidemiology, specifically the need for careful consideration from study design to interpretation. She will present two vignettes to illustrate: (1) a study of enteric infections in Bangladeshi infants, which required homogeneity of SDOH to better isolate genetic effects, and (2) the role of heterogeneity within Hispanic/Latino populations and how this can influence our estimates of genetic risk. Together, these vignettes will show how both homogeneity and heterogeneity in SDOH can influence genetic studies of human health.

    Overview of Presentation

    • Human genetics are part of a complex system contributing to health.
    • This system includes both individual-level and structural contributors.
    • These structural influences can introduce heterogeneity both within and between populations.
    • Genetic studies must consider societal contexts in order to appropriately account for these contributions in analyses and ensure appropriate interpretations of results.

    Dr. Genevieve Wojcik

    Genetic Epidemiologist and Assistant Professor of Epidemiology

    Johns Hopkins Bloomberg School of Public Health

    Dr. Genevieve Wojcik is a genetic epidemiologist and Assistant Professor of Epidemiology at the Johns Hopkins Bloomberg School of Public Health. She obtained her BA in Biology from Cornell University, followed by an MHS in Human Genetics/Genetic Epidemiology and a PhD in Epidemiology from the Johns Hopkins Bloomberg School of Public Health. Dr. Wojcik then conducted her postdoctoral training at Stanford University in the Departments of Genetics and Biomedical Data Science. Her research program focuses on two major areas: (1) investigating the role of human genetics in infection and vaccine response, and (2) understanding the role of ancestry in genetic risk and developing solutions to address health inequities for diverse and admixed populations. Dr. Wojcik is involved in multiple NHGRI consortia, most notably the Population Architecture using Genomics and Epidemiology (PAGE) Study and the Clinical Genome Resource (ClinGen).

    Anne Slavotinek, MD, PhD, FRACP, FACMG (Moderator)

    Professor of Clinical Pediatrics

    UCSF

    Dr. Slavotinek is certified in Clinical Genetics and has worked as a Medical Geneticist at UCSF since 2002, specializing in dysmorphology and clinical genomics. She received her medical degree from the University of Adelaide and her Ph.D from Flinders University whilst studying in Edinburgh at the MRC Human Genetics Unit. She trained in Clinical Genetics in the U.K. and then did a postdoctoral Fellowship and a Genetics Fellowship at the National Institutes of Health. She has participated in leadership activities at the American College of Medical Genetics and Genomics and is currently Chair of the American Board of Medical Genetics and Genomics. Dr. Slavotinek is a Co-Editor in Chief for the American Journal of Medical Genetics and an author on more than 200 peer-reviewed publications. She is a Principal Investigator for the Program in Prenatal and Pediatric genomic sequencing grant at UCSF that is part of the Clinical Sequencing Evidence Generating Research (CSER) consortium and directs a laboratory that uses next-generation sequencing technologies and zebrafish as an animal model system to study the etiology of developmental eye defects and multiple congenital anomaly syndromes.

    Chris Gunter, PhD (Moderator)

    Senior Advisor to the Director for Genomics Engagement

    National Human Genome Research Institute, NIH

    Dr. Chris Gunter is the Senior Advisor for Genomics Engagement at the National Human Genome Research Institute, and the head of the Engagement Methods Unit in the Social Behavioral Research Branch. She earned her Ph.D. in human genetics at Emory University and then completed postdoctoral work at Case Western Reserve University. Following that, she worked in editorial positions for Human Molecular Genetics, Science, and Nature, and currently has editorial positions at the preprint server bioRxiv and the journal CSHL Molecular Case Studies. Her work has two major foci: scientific studies on autism genetics, and development and measurement of science communication methods.

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