Catalog Advanced Search

Search by Category
Search by Format
Sort By
Search by Type
Search by Category
Search in Packages
Search by Format
Search by Type
Search by Date Range
Products are filtered by different dates, depending on the combination of live and on-demand components that they contain, and on whether any live components are over or not.
Start
End
Search by Keyword
Sort By
  • 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.



      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      ​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. 

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      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.

      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

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      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. 

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      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

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • 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.

      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, PhD, MBA

      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 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.

      Hannah Wand, MS, CGC

      Director of the Preventive Genomics Program

      Stanford Healthcare

      Hannah Wand, MS, CGC, 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.  

      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.

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • 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.

       

      Jessica Chong, PhD (Moderator)

      Deputy Editor

      HGG Advances

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • 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. 

      Overview of Presentation

      • 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.

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      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

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
        • Nonmember - Free!
      • More Information
    • Contains 1 Component(s)

      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.

      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

      • Register
        • Regular Member - Free!
        • Early Career Member - Free!
        • Resident/Clinical Fellow Member - Free!
        • Postdoctoral Fellow Member - Free!
        • Graduate Student Member - Free!
        • Undergraduate Student Member - Free!
        • Emeritus Member - Free!
        • Life Member - Free!
        • Trainee Member - Free!
      • More Information