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  • Contains 1 Component(s) Includes a Live Web Event on 02/16/2023 at 11:00 AM (EST)

    ASHG’s recent Guidance on addressing underrepresentation in genomics research through community engagement laid out recommendations to help scientists understand and responsibly engage underrepresented communities in research partnerships. This webinar aims to discuss the Guidance recommendations and showcase several researchers in the human genetics community responsibly engaging underrepresented communities in their projects.

    ASHG’s published Guidance, “Addressing Underrepresentation in Genomics Research through Community Engagement” lays out recommendations to help scientists understand and responsibly engage underrepresented communities in research studies. The speakers will discuss these recommendations, the evidence and rationale that supports them, and provide practical tips for researchers who want to establish collaborative research partnerships with communities. This webinar will highlight researchers successfully implementing these guidelines in their own projects. 

     Registrants may submit their questions to the Discussion tab located above, to be answered during the live event on February 16th. 

     

    Overview

    • To illustrate how researchers can best apply the recommendations for responsible research
    • To describe the ethical, legal, and social implications involved to create responsible research partnerships with underrepresented communities

    Tabia Henry Akintobi, PhD, MPH

    Professor and Chair of Community Health

    Morehouse School of Medicine

    Dr. Henry Akintobi, Professor and Chair of Community Health at Morehouse School of Medicine is a graduate of the University of South Florida College of Public Health where she earned her Doctor of Philosophy in Public Health in the Department of Community and Family Health. She is a globally sought health equity champion and social behavioral scientist, leading, or collaborating in the implementation of translational research and participatory evaluations that address health disparities and advance community or population health transformation.  

    Dr. Henry Akintobi serves as Principal Investigator and of the Morehouse School of Medicine Prevention Research Center (PRC), the first institutionally designated center advancing community-based participatory research, competitively funded by the Centers for Disease Control and Prevention (CDC) since 1998. Dr. Henry Akintobi leads the Georgia Community Engaged Alliance (CEAL) Against COVID-19 Disparities funded by the National Institutes of Health (NIH). She also represents Morehouse School of Medicine as its PI, lead or Senior Advisory for other NIH grants including Georgia Center for Diabetes Translation Research, the Georgia Clinical and Translational Science Alliance Community Engagement Program, and Georgia RADx-Underserved Populations-Promoting Engagement and COVID-19 Testing for Health, among others. She is an extensively published contributor to the peer reviewed literature and co-author of the Johns Hopkins University Press text entitled The Morehouse Model: How School of Medicine, Revolutionized Community Engagement and Health Equity and the CDC-NIH co-sponsored Principles of Community Engagement Primer (2nd Edition) among many other books and publications.  

    As Associate Dean for Community Engagement, Dr. Henry Akintobi advances MSM efforts to promote and strengthen effective partnerships between faculty, staff, and students and community residents and leaders, government agencies, faith-based organizations, or health and social service agencies. She has led collaborations with education, clinical, research, practice, and policy leaders to demonstrate preeminence in community health and related engagement strategies through successful acquisition of local and national awards including but not limited to the Carnegie Designation for the Advancement of Teaching in Community Engagement, and the Josiah Macy Inaugural Award for Excellence in Social Mission. Her public health research and practice leadership have been designed to advance the art and science of community engagement. Specifically, her work has focused on community engaged translational research science, the practice of community-based participatory research (CBPR), and approaches to build and sustain effective partnerships among academic institutions, community residents, health departments and policy leaders to understand, develop and shape research, policy and practice strategies to address health disparities and their root causes thereby advancing health equity led. Her work is guided by training in public health social epidemiology, social marketing, community-based participatory research, and evaluation. 


    Ambroise Wonkam, MD, PhD

    Professor of Genetic Medicine, & Director

    McKusick-Nathans Institute & Department of Genetic Medicine, Johns Hopkins University School of Medicine

    Prof Ambroise Wonkam is a professor of Genetic Medicine, and Director of McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.

    His is also Director of GeneMAP (Genetic Medicine of African Populations), and immediate past Deputy Dean Research at the Faculty of Health Sciences, University of Cape Town, South Africa.

    After a MD training from the Faculty of Medicine and Biomedical Sciences, University of Yaoundé He (Cameroon), he completed a thesis in Medical Sciences (cell biology) at the University of Geneva (Switzerland), and a PhD in Human Genetics (University of Cape Town, South Africa). Prof Wonkam’s also trained as a medical geneticist at a highly reputable Genetic Medicine at the University of Geneva (Switzerland). He subsequently practices Genetic Medicine in both European and African contexts.

    His research interests are reflected in more than 200 peer-reviewed publications. His research focuses genetic and genomic variation in African population with focus on: on 1) Genomics modifiers of Sickle Cell Disease (SCD); 2) Genetics of hearing Impairment, and 3) Ethical and educational Issues in human genetics. Prof Wonkam has let successfully over the past 10 years numerous NIH and Wellcome Trust funded projects accounting for about 20m USD, to pursue research studies in various countries in Africa (Tanzania, Cameroon, Nigeria, Zimbabwe, Zambia, Uganda, Mali, Sudan, Rwanda, and Ghana)

    He was awarded the 2003 Denber-Pinard Prize for the best thesis from the Faculty of Medicine, University of Geneva, Switzerland, and won the very competitive Clinical Genetics Society International Award for 2014, from the British Society of Genetic Medicine, and 2021 Alan Pifer Award from UCT, and the 2021 MRC South Africa Gold Scientific Merit Award for the excellence of his research.

    Prof Wonkam is associate Editor of the American Journal of Human Genetics, the American Journal of Medical Genetics, the Journal of Community Genetics, and Academic Editor of Plos One, and member of the editorial Board of Human Genetics.

    Prof Wonkam is president of the African Society of Human Genetics, Chair of the steering committee of H3Africa consortium, Board member of the International Federation of Human Genetics Societies, steering committee’s member of the Global Genetic Medicine Collaborative (G2MC), Faculty Scholar of the Human Genome Organization (HUGO).

    Andrew Landstrom, MD, PhD (Moderator)

    Associate Professor of Pediatrics and Cell Biology

    Duke University School of Medicine

    Dr. Andrew Landstrom is an Associate Professor of Pediatrics (Division of Cardiology) and Cell Biology at Duke University.  He completed an MD and PhD at the Mayo Clinic College of Medicine where he explored the genetic causes of cardiomyopathies and heritable arrhythmias.  He completed pediatrics residency, pediatric cardiology fellowship, and an advanced fellowship in pediatric electrophysiology at Texas Children’s Hospital at Baylor College of Medicine.  There, he also completed a postdoctoral research fellowship in cell and molecular physiology.  He subsequently joined Duke’s Department of Pediatrics as a cardiologist specializing in the care of children and families with heritable cardiac disease, channelopathies, and cardiomyopathies.  He leads an NIH-funded lab which identifies novel genetic loci associated with arrhythmia and cardiomyopathy development and determines molecular mechanisms of disease development using induced pluripotent stem cells and genetic mouse models.  The overall goal of his work is to identify new causes of heritable cardiac disease and to create new therapies to treat these life-threatening diseases. 

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  • Contains 1 Component(s) Includes a Live Web Event on 02/08/2023 at 12:00 PM (EST)

    Erping Long will discuss their study using massively parallel reporter assays and variant scoring to identify functional variants from 78% of known melanoma GWAS loci, including those specific to cell of origin versus cancer contexts. Linking prioritized functional variants to eQTLs identified target genes as validated by CRISPRi.

    Erping Long will discuss their study using massively parallel reporter assays and variant scoring to identify functional variants from 78% of known melanoma GWAS loci, including those specific to cell of origin versus cancer contexts. Linking prioritized functional variants to eQTLs identified target genes as validated by CRISPRi.

     

    Overview of Presentation

    • Massively parallel reporter assays identified 285 functional variants from 78% of the known melanoma risk loci. 
    • A scoring system integrated multi-layer functional datasets and prioritized a single variant for 43% of these loci. 
    • CRISPRi of top-scoring variants validated their cis-regulatory effect on the eQTL target genes, MAFF (22q13.1) and GPRC5A (12p13.1). 
    • Cell-type specificity were observed for variants in the context of malignant melanoma and normal melanocyte cells. 

    Erping Long, MD, PhD

    Postdoctoral Fellow at Laboratory of Translational Genomics

    National Institutes of Health

    Dr. Erping Long is the postdoctoral fellow in the Laboratory of Translational Genomics (LTG). Dr. Long completed his M.D., Ph.D.in Clinical Medicine (Ophthalmology) from Zhongshan Ophthalmic Center, Sun Yat-sen University, China in 2020. An independent part of his doctoral research was conducted at the University of Michigan, Ann Arbor, where he worked on how evolutionary force shapes the genetic risk of human senescence and disease. In LTG, Dr. Long conducts research that leverages computational approaches and large-scale functional genomics resources to understand genetic susceptibility to lung cancer and melanoma, under the mentorship of Dr. Choi, and Mitchell Machiela, Sc.D., M.P.H., Earl Stadtman Investigator, Integrative Tumor Epidemiology Branch. He was one of 10 recipients awarded the Ray Wu Prize in 2020, the highest honor for Chinese Ph.D. students in Life Science. 

    Jiyeon Choi, PhD

    Stadtman Investigator at Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute

    National Institutes of Health

    Dr. Jiyeon Choi is an Earl Stadtman Investigator at the Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, in National Cancer Institute (NCI). Dr. Choi received her B.S. from Ewha Womans University and her M.S. from Korea University in Seoul, Korea, and her Ph.D. in cell and developmental biology from Rutgers University in New Jersey. Dr. Choi joined NCI for her postdoctoral training and was promoted to an Investigator in 2019. Dr. Choi’s research focuses on understanding genetic susceptibility to lung cancer and melanoma. Dr. Choi has received numerous awards for her work, including the NCI Director’s Intramural Innovation Award, the DCEG Outstanding Research Paper by a Fellow, and the NCI Outstanding Mentor Award. Dr. Choi was selected for the NIH Distinguished Scholars Program in 2019.

    Kylee Spencer, PhD (Moderator)

    Assistant Editor

    American Journal of Human Genetics

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  • Contains 1 Component(s)

    This workshop will provide in-depth training on the design and implementation of research studies using the principles and practices of population-based newborn screening.

    A key component of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program is the Newborn Screening Translational Research Network (NBSTRN). Since its beginning in 2008, the NBSTRN has been led by the American College of Medical Genetics and Genomics (ACMG). In the past fourteen years, NBSTRN data tools, resources, and expertise has been used by researchers to advance understanding of genetic disease and discover novel technologies to screen and diagnose disease. This has led to the population-based screening of the 3.8 million babies born each year in the United States. Collectively, the NBSTRN team has guided efforts by working with an individual research team conducting studies that have enrolled over 1 million newborns in pilots, clinical trials, or natural history studies.

    With the emerging use of genomics as a 2nd tier or confirmatory testing strategy in newborn screening and advancements in antisense oligonucleotide (ASO)-mediated exon skipping compounds, the potential to advance precision medicine using newborn screening has never been more promising.

    This workshop will provide in-depth training on the design and implementation of research studies using the principles and practices of population-based newborn screening. Four use cases will enable participants to carry out data-driven discovery using three NBSTRN developed data tools. The use cases will include a wide array of data elements and components to allow customization of the experience for each participant. The use cases will include both hypothesis-driven and data-driven scenarios, and formatting of data for submission to 3rd party databases like dbGaP will be included. The data tools include the Longitudinal Pediatric Data Resource (LPDR), housed within a FISMA Moderate cloud environment, and designed to share new findings and foster secondary use of accumulated data. The two other data tools are the NBS- Condition Resource (NBS-CR) which helps researchers choose diseases, genes, and variants, and the NBS-Virtual Repository of States, Subjects & Samples (NBS-VR) with an interactive map tool to navigate state NBS programs and locate subjects and samples to execute the use cases.

    Amy Brower, PhD

    Associate Project Director, Adjunct Professor

    Genetic Medicine - UNMC

    Dr. Brower is a medical geneticist at the American College of Medical Genetics and Genomics in Bethesda, MD and is the Co-Principal Investigator of the Newborn Screening Translational Research Network (NBSTRN) as part of Eunice Kennedy Shriver National Institute of Child Health and Human Development’s (NICHD) Hunter Kelly Newborn Screening Research Program. Dr. Brower directs a team that develops informatics platforms, resources and tools to collect, analyze, visualize and share longitudinal clinical and genomic research data to better understand genetic disease across the lifespan.  The NBSTRN collaborates with national research projects working to discover new ways to detect and treat diseases affecting newborns and young children, including a five-year collaborative effort to understand the benefits of sequencing the genome of newborns, a two-year pilot of Duchenne Muscular Dystrophy to assess the benefit of early identification and treatment through newborn screening. Dr. Brower is also the Director of a two-year effort funded by the Health Resources and Services Administration (HRSA) called the Long-Term Follow-Up Cares and Check Initiative. This effort is working to improve the longitudinal follow-up of individuals identified with a disease through newborn screening. Amy has a background in medical genetics, genomics, informatics, FDA submissions, newborn screening, translational research, molecular diagnostics and bioinformatics.  She was a member of the Human Genome Project and International HapMap Project and developed molecular diagnostic and informatics platforms over a decade of work in the device industry. Dr. Brower serves on several national and foundation advisory boards and was an inaugural member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Amy received her doctorate degree in Medical Genetics at the University of Nebraska Medical Center. Amy is the parent of a son with Severe Combined Immunodeficiency.

    Yekaterina Unnikumaran

    Genetic Data Integration Analyst

    Newborn Screening Translational Research Network

    Yekaterina Unnikumaran, is the Genetic Data Integration Analyst and the staff lead for the Bioethics and Legal Workgroup at NBSTRN. She holds a Master of Science in Bioinformatics and a Master of Education from the University of Maryland. Her diverse background includes experience in software development, data analysis, and instructional design, as well as proficiency in programming languages such as Python, Java, R, and SQL. Additionally, she has held leadership positions in STEM education and has taught courses in human anatomy and physiology, biology, and ecology at the university level.

    Her current projects include updates to data tools such as the LPDR tool and dissemination campaigns, such as editing video sessions for Network or Summit meetings. She was also part of the team that contributed content to the ELSI Advantage tool.

    Galata Tona

    Data Engineer

    American College of Medical Genetics and Genomics

    Galata Tona is a Data Engineer at the American College of Medical Genetics and Genomics (ACMG) for the Newborn Screening Translational Research Network (NBSTRN). He holds a Masters Degree, in International Development from the University of Pittsburgh, where his passion for Data Analysis/Science was sparked as he explored the field of Econometrics. He started his career in Data Analysis as Data Coordinator with SOS Children’s Villages-USA, a world-renowned non-profit organization committed to building homes and families for orphaned and vulnerable children in need. He would later become SOS Children’s Villages-USA’s Solutions Engineer, where he would lead the Data Team in building Data tools and processes that removed the need to manual data aggregation and repetitive data entry. He has experience working in Python, JavaScript and Data Science.

    Kevin Wilhelm

    Graduate Student

    Genetics and Genomics Graduate Program at Baylor College of Medicine

    Kevin Wilhelm is a current graduate student in the Genetics and Genomics Graduate Program at Baylor College of Medicine. He obtained his undergraduate degree in Veterinary and Biomedical Sciences from the University of Nebraska-Lincoln and his Professional Science Master’s in Bioinformatics from the University of Maine-Orono. He is currently working in Dr. Olivier Lichtarge’s lab to discover novel genetic risk factors in complex diseases using evolution-based variant impact predictors, whole exome sequencing, and machine learning. He was recently selected for a fellowship through the Gulf Coast Consortia to further study complex genetic risk factors and prioritize candidates for drug repurposing studies.

    Kee Chan, PhD, MBA

    Scientific Strategy Manager

    American College of Medical Genetics and Genomics (ACMG)

    Dr. Kee Chan received her PhD in Epidemiology and Public Health from Yale University.  Her PhD dissertation was focused on the development of a newborn screening test for severe combined immunodeficiency (SCID). Dr. Chan joined NBSTRN as the Scientific Strategy Manager. Her role involves building new strategic partnerships with academia, non-profit organizations, governmental agencies, and industries to expand the NBSTRN network.  Dr. Chan leads a working group with different stakeholders to advance newborn screening research into public health practice and implementation. Dr. Chan has given workshops on effective communication and is serving as the public relations NBSTRN staff to amplify the voices of stakeholders involved in newborn screening research.

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      • Life Member - $20
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  • Contains 1 Component(s)

    Gain hands on experience with the Amazon Genomics CLI.

    The cloud provides a scalable platform to store, analyze, and query genomic data. Amazon Omics is an managed service on AWS that helps healthcare and life science organizations and their software partners store, query, and analyze genomic, transcriptomic, and other omics data and then generate insights from that data to improve health and advance scientific discoveries. The Registry of Open Data on AWS makes it easy to find data sets made publicly available through AWS services and contains over 90 life sciences datasets like the NCBI Sequence Read Archive, The Cancer Genome Atlas, and Genome in a Bottle. In this workshop, you will gain detailed view of how Amazon Omics enables an end-to-end genomic data journey - from ingesting raw sequence data, to running community best practice workflows, to querying variants at scale using publicly available data from the Registry of Open Data on AWS.

    W. Lee Pang, PhD

    Principal Solutions Architect

    Amazon Web Services

    Lee is a Principal Solutions Architect with the Health AI services team at AWS focused elevating the user experience performing large scale bioinformatics and genomics data analysis in the cloud. He has a PhD in Bioengineering and over a decade of hands-on experience as a scientist and software engineer in bioinformatics and computational systems biology, developing tools for high throughput *omics data processing and analysis.

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      • Undergraduate Student Member - $10
      • Emeritus Member - $10
      • Life Member - $20
      • Trainee Member - $10
      • Nonmember - $50
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  • Contains 1 Component(s)

    Vamsee Pillalamarri will discuss the impact of rare nuclear genetic variation on the number of copies of the mitochondrial genome, called mitochondrial DNA copy number (mtDNA-CN), an important biomarker for aging. Results from the study implicate an ancestral haplotype associated with increased mtDNA-CN, as well as highlight core processes involved with mtDNA replication and maintenance and enrichment of rare variant associations in Mendelian mtDNA depletion syndromes loci.

    Vamsee Pillalamarri will discuss the impact of rare nuclear genetic variation on the number of copies of the mitochondrial genome, called mitochondrial DNA copy number (mtDNA-CN), an important biomarker for aging. Results from the study implicate an ancestral haplotype associated with increased mtDNA-CN, as well as highlight core processes involved with mtDNA replication and maintenance and enrichment of rare variant associations in Mendelian mtDNA depletion syndromes loci.

    Learning Objectives

    • Highlight the association of mitochondrial DNA copy number with aging related traits and disease
    • Describe the use of whole-exome sequencing and genotyping data to estimate the number of copies of the mitochondrial genome in the UK Biobank
    • Perform an exome-wide association study of single-variant and gene-based groups of rare variants with mtDNA-CN
    • Identify 24 independent signals from 17 loci
    • Rare variants delineate a 1.2 Mb ancestral haplotype associated with increased mtDNA-CN, contrary to expectation that physically distant rare variants are in linkage equilibrium
    • mtDNA-CN associated rare variants are enriched in loci implicated in Mendelian mtDNA depletion syndromes


    Vamsee Pillalamarri

    PhD Candidate

    Johns Hopkins University School of Medicine

    Vamsee Pillalamarri is a PhD Candidate in Human Genetics at the Johns Hopkins University School of Medicine and is cross trained by the Johns Hopkins Bloomberg School of Public Health through the Maryland Genetics, Epidemiology, and Medicine training program. At Hopkins, with the supervision of Dr. Dan Arking, he investigates the role of mitochondrial DNA variation and copy number in complex traits and disease, and further studies the impact of complex genetic risk for autism spectrum disorder within general and admixed populations. Prior to his predoctoral studies, he earned bachelor’s and master’s degrees in Computer Science / Computational Biology from Carnegie Mellon University in Pittsburgh, PA, worked at the MIT Lincoln Laboratory in Boston, MA in forensic genetics, and served as a bioinformatics specialist and researcher at Massachusetts General Hospital within the lab of Dr. Michael Talkowski investigating the impact of complex structural variation for autism spectrum disorders.

     

    Contact Vamsee Pillalamarri:

    Twitter: @vkpillal

    Email: vpillal1@jhmi.edu 

    Dan E. Arking, PhD

    Professor of Genetic Medicine

    Johns Hopkins University School of Medicine

    Dan E. Arking, Ph.D., is a Professor of Genetic Medicine at the Johns Hopkins University School of Medicine, and is the Deputy Director of Research in the Department of Genetic Medicine.  Dr. Arking earned his doctoral degree in human genetics from the Johns Hopkins University School of Medicine in 2001 and completed a postdoctoral fellowship at Johns Hopkins in the laboratory of Dr. Aravinda Chakravarti in 2005. Dr. Arking’s research focuses on identifying and characterizing genetic variants underlying complex human disease, with a specific focus on aging-related diseases and autism. Recent work has focused on the role of mitochondrial DNA variation in cardiovascular disease and overall mortality.  

    Mike Bamshad, MD (Moderator)

    Editor-in-Chief of HGG Advances

    Chief of the Genetic Medicine Division of the Department of Pediatrics at Seattle Children’s Hospital, University of Washington (UW), Director of the Center for Clinical Genomics, Principal investigator the UW Center for Mendelian Genomics

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  • Contains 17 Product(s)

    A Two-Day Interactive Event Brought to You by ASHG

    A Two-Day Interactive Event Brought to You by ASHG hosted on November 15 & 16, 2022.

    Please review the available agenda.

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  • Contains 1 Component(s)

    A 90-minute virtual forum featuring a brief presentation of the "Facing Our History - Building an Equitable Future" initiative, a panel discussion, and a safe space for questions and dialogue.

    ASHG invites our community to participate in a 90-minute virtual forum featuring a brief presentation of the Facing Our History – Building an Equitable Future initiative, a panel discussion, and a safe space for questions and dialogue. Please join us on September 14, 2022, from 2 pm to 3:30 pm ET.

    This session will be moderated by Neil Hanchard, MBBS, D.Phil, (Chair, ASHG DEI Task Force and Facilitator of the initiative’s Expert Panel on Historic Injustices and Scientific Racism). The session is designed to provide background on the initiative and its progress as well as engage our community in this important discussion. The dialogue portion of the session will not be recorded to maintain the freedom for participants to speak openly and safely.

    The following Expert Panel members are participating in the forum:

    • Katrina Claw, PhD, University of Colorado School of Medicine, Assistant Professor, Medicine-Bioinformatics
    • Tshaka Cunningham, PhD, Chief Scientific Officer, Polaris Genomics Inc.
    • Charmaine Royal, PhD, Duke University, Robert O. Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health
    • Digna Velez Edwards, PhD, Vanderbilt University, Division Director Quantitative Sciences, Director, Women’s Health Research

    Register today using the green button at the top of this page.

    • Katrina Claw, PhD, is an Assistant Professor at the University of Colorado Anschutz Medical Campus in the Department of Biomedical Informatics. Broadly, her research program focuses on personalizing medicine, pharmacogenomics, and the ethical, legal, social, and cultural implications of genomic research with American Indian/Alaska Native and other Indigenous communities. At the core of her research is using community-engaged approaches and ethical frameworks throughout the research process. Dr. Claw grew up on the Navajo Nation and is an enrolled member of the Navajo (Diné) tribe. She obtained her BS in biology and BA in anthropology at Arizona State University and her PhD in genome sciences at the University of Washington.
    • Tshaka Cunningham, PhD, a graduate of Princeton University, received his PhD in molecular biology from Rockefeller University & completed his postdoctoral training at the Pasteur Institute in Paris, France. He is the co-founder and Chief Scientific Officer of Polaris Genomics, a precision behavioral health company. A leading voice in advocating for diversity & representation in the field of genomics, Tshaka is also a volunteer leader of non-profit STEM youth programming for underserved communities. He previously worked at the VA headquarters overseeing a large neurodegenerative disease research program, & also served as a subject matter expert for the VA’s Genomic Medicine Implementation Program. Motivated by the timely need for advancements in precision medicine while at the VA, Tshaka is dedicated to improving people’s lives through the power of genomics.
    • Charmaine Royal, PhD, is the Robert O. Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health at Duke University. She directs the Duke Center on Genomics, Race, Identity, Difference and the Duke Center for Truth, Racial Healing & Transformation. Dr. Royal’s research, scholarship, and teaching focus on ethical, social, scientific, and clinical implications of human genetics and genomics research, particularly issues at the intersection of genetics and "race". Her specific interests and primary areas of work include genetics and genomics in African and African Diaspora populations; sickle cell disease and trait; public and professional perspectives and practices regarding "race", ethnicity, and ancestry; genetic ancestry inference; and broadly defined genotype-environment interplay. A fundamental aim of her work is to dismantle ideologies and systems of racial hierarchy in research, healthcare, and society. She serves on numerous national and international advisory boards and committees for government agencies, professional organizations, research initiatives, not-for-profit entities, and corporations.
    • Digna Velez Edwards, PhD, MS, is a genetic epidemiologist, Professor of Obstetrics and Gynecology, Director of the Division of Quantitative Sciences in the Department of Obstetrics and Gynecology, and Director of Women's Health Research center. She has doctoral training in human genetics and a master's degree in statistics. She started as faculty in the department of Obstetrics and Gynecology in 2010 pursuing research focused on understanding the genetic determinants of health disparities and the role of gene and environment interactions in the risk for complex diseases, with a specific interest in fibroproliferative disorders that include uterine fibroids and keloids and diseases that disproportionately impact women's reproductive health. She is also actively engaged in early career faculty and graduate student training through her role as Associate Program Director of the Vanderbilt’s Building Interdisciplinary Research Careers in Women’s Health K12 Program that focuses on training faculty in sex and gender research careers, as well as her role as Co-Director of the Initiative for Maximizing Student Diversity (IMSD) graduate student training program.



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      ​Are you interested in an industry career and how to be the ideal candidate for those positions? Get the answer directly from industry scientists in this webinar and hear about the up-to-date resources ASHG provides you to support a career transition.

      Are you interested in an industry career and how to be the ideal candidate for those positions? Get the answer directly from industry scientists in this webinar and hear about the up-to-date resources ASHG provides you to support a career transition. Webinar attendees will hear from scientists in a variety of positions from Biogen, Illumina, Invitae, and GlaxoSmithKline. These panelists will talk about the skills necessary for success at their respective companies and how ASHG membership, relationships, and resources contribute to their professional development success. Attendees will have the opportunity to join breakout rooms to ask questions of individual companies and get immediate feedback.  

      Swaroop Aradhya

      Head of Medical Affairs

      Invitae

      Dr. Aradhya is the head of global medical affairs at Invitae, which he helped develop from its inception to become one of the largest and globally recognized genetic testing companies. His team provides the medical voice within the company and influences strategic business decisions, guides clinical product development, conducts scientific and clinical research, and supports relationships with clinicians and partners. Dr. Aradhya is a board-certified clinical molecular geneticist and cytogeneticist. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. He participated in the international Human Genome Project, has helped characterize several Mendelian disorders, and has helped develop professional guidelines for clinical genomics. For several years, he has participated in the ClinGen project and has served as Adjunct Clinical Associate Professor at Stanford University School of Medicine. He has served on various committees at the American Society of Human Genetics and the International Society for Prenatal Diagnosis and as a Director of the American Board of Medical Genetics and Genomics. 

      Chia-Yen Chen

      Principal Scientist

      Biogen

      Dr. Chia-Yen Chen’s research focus is on leveraging large-scale human genomic datasets and biobanks for psychiatric and cognitive genetics. Dr. Chen is a currently a principal scientist in the Human Genetics group at Biogen. Before joining Biogen, he was a postdoctoral fellow in Massachusetts General Hospital and Stanley Center for Psychiatric Research at Broad Institute. Dr. Chen obtained an ScM in biostatistics and ScD in epidemiology from Harvard School of Public Health. He published on novel statistical genetics methods, biobanks analysis with genetic and electronic health record data, common and rare variant association studies, and most recently, leveraging human genetics for drug target identification and validation. He has also been an active member of international consortia and biobanks including the Psychiatric Genomics Consortium and FinnGen. 

      Meg Ehm, PhD

      Senior Director Group Lead, Genomic Sciences

      GlaxoSmithKline

      Meg is currently a Senior Director, Genomic Sciences at GSK where she leads the Collaborations & Capabilities group.  Her work supports GSK’s commitment to a research pipeline driven by genetics, by fostering the use of Electronic Health Record (EHR) linked biobanks for genetic research, driving strategies for defining analysis traits using EHR data and piloting genetics-driven recall studies of participants with loss of function variants from consanguineous populations.  This work builds on her experience in use of EHR data and genetic information with biobanks in Scandinavia, UK and US to identify and validate drug targets which is transforming the use of genetic data in drug discovery and development.  Meg joined GSK in 1995 as their first statistical geneticist and was promoted through a series of progressively challenging roles.  She is the sponsor of Genomic Sciences’ Diversity, Equity and Inclusion team and enjoys supporting the development of high school students and young scientists through coaching, summer internships and job shadowing.   

        

      Meg earned an MA and PhD in statistics in 1995 and 1996 from Rice University after earning her BS in computer science and mathematics in 1991 from Vanderbilt University.  She became interested in genetics after a summer job at the University of Texas Medical Center where she studied genetic linkage analysis just as the Human Genome project was initiated.

      Kaitlin Pugliese

      Senior Product Manager

      Illumina

      Kaitlin Pugliese, PhD, MBA is a Senior Product Manager at Illumina focused on developing and managing product for genetic disease testing applications. Kaitlin completed her PhD in Chemistry at UC Irvine. After her first round of graduate school, Kaitlin spent over 5 years as a Scientist in Research and Technology Development at Illumina. Throughout this time, she achieved recognition as an accomplished inventor for her scientific contributions and served as the Chair for the Women at Illumina Network employee resource group. More recently, Kaitlin transitioned from R&D to Marketing for her current role and completed her MBA from UCSD’s Rady School of Management earlier this year

      Ted Han (Moderator)

      Postdoctoral Research Fellow and ABMGG Laboratory Genetics and Genomics Fellow

      National Human Genome Research Institute

      Dr. Han is a postdoctoral research fellow and an ABMGG Laboratory Genetics and Genomics fellow at the National Human Genome Research Institute. He obtained his PhD in human genetics from Johns Hopkins University studying the molecular genetics of cystic fibrosis. In his current role, Dr. Han studies the molecular mechanisms underlying neurodevelopmental disorders with a focus on lysosomal biology and lysosomal storage disorders. He is also currently in training for certification in laboratory genetics and genomics by the American Board of Medical Genetics and Genomics. 

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      Emil Jørsboe, PhD, will discuss their paper on an LDLR missense variant that poses a high risk of familial hypercholesterolemia in 30% of Greenlanders and that offers potential of early cardiovascular disease intervention and prevention.

      Emil Jørsboe, PhD, will discuss his paper on an LDLR missense variant that poses a high risk of familial hypercholesterolemia in 30% of Greenlanders and that offers potential of early cardiovascular disease intervention and prevention.

      Overview of Presentation

      • A missense variant in the LDLR gene, common in Greenlanders (MAF = 16%), approximately one third of all Greenlanders are carriers
      • Doing association studies we show how carriers have highly elevated levels of LDL cholesterol, around 50% of homozygous carriers have very high levels of LDL cholesterol above 4.9 mmol/L, which is the level used for familial hypercholesterolemia diagnosing
      • Doing survival studies we show how carriers have an increased risk of developing ischemic heart disease
      • LDL cholesterol has a burden effect over time similar to pack-years for smoking, therefore this should hopefully lead to early detection and intervention, hopefully preventing cardiovascular disease on a population scale 

      Emil Jørsboe

      Postdoc

      University of Oxford

      Dr. Emil Jørsboe is currently a postdoc at the University of Oxford. He obtained his bachelor’s degree in Pharmacy and his master’s degree in Bioinformatics at the University of Copenhagen. He then moved on to do a PhD in Bioinformatics at the University of Copenhagen, working with the genetics of Greenlanders and also working with probabilistic methods for low depth sequencing data, publishing papers on both topics. Following his PhD degree, Emil chose to do a postdoc on applying visual deep learning methods to histology data. This project is a collaboration between the University of Copenhagen and the University of Oxford.


      Contact Dr. Jørsboe:

      Twitter: @jorsboe

      Email: emil.joersboe@sund.ku.dk 

      Jessica Chong, PhD (Moderator)

      Deputy Editor

      HGG Advances

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      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.

      Ninad Oak, PhD (Moderator)

      Bioinformatics Research Scientist

      Division of Cancer Predisposition, Oncology, St. Jude Children’s Research Hospital

      Dr. Ninad Oak is a bioinformatics research scientist within the Division of Cancer Predisposition, Department of Oncology at St. Jude Children’s Research Hospital. During his 9+ years of research experience in the field of human genetics and bioinformatics, Ninad has focused on understanding the genetic predisposition to adult and pediatric cancers through development of novel bioinformatic approaches. Dr. Oak has a PhD in molecular and human genetics from Baylor College of Medicine which focused on identification of microRNA sequence variants from large-scale control and adult cancer datasets. Dr. Oak continues to contribute to several professional organizations, notably chairing Alumni Student and Ambassador Board at Baylor College of Medicine and as a member of a working group (OPPE) in American Society of Human Genetics. At St. Jude, Ninad feels high sense of commitment to the noble mission of St. Jude with the ultimate goal of making patients’ lives better. 

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