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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.
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  • Contains 1 Component(s) Includes a Live Web Event on 04/10/2024 at 12:00 PM (EDT)

    Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3'UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

    Lindsay Romo, medical biochemical genetics fellow, will present on incorporating functional datasets to improve interpretation of 3'UTR variants, as well as a new software tool, RegVar, aimed at characterizing variants by their putative regulatory elements.

    Overview of Presentation

    • Most variants in ClinVar are of uncertain significance; this is especially true for 3'UTR variants.
    • Many functional datasets exist that characterize 3'UTR variants and/or regulatory elements including genome wide association studies, expression quantitative trait loci, RNA binding protein immunoprecipitation studies, and microRNA target predictions.
    • These datasets can be leveraged to identify functional 3'UTR variants that impact gene expression or phenotype.
    • Incorporation of regulatory features into a generalized linear model enables characterization of any 3'UTR variant by its potential functional elements as well as the likelihood the variant affects expression or phenotype.
    • We provide RegVar, a software tool that provides regulatory information for any 3'UTR variant and may be used to prioritize patient variants for experimental studies and improve clinical variant interpretation.

    Lindsay Romo, MD, PhD

    Medical Biochemical Genetics fellow

    Boston Children's Hospital/Harvard Medical School Genetics Training Program; Visiting Postdoctoral Researcher at the MIT Burge Lab

    Dr. Lindsay Romo is a medical biochemical genetics fellow in the Harvard Medical School Genetics Training Program at Boston Children’s Hospital and a visiting postdoctoral fellow in the Burge Lab at MIT. She obtained her undergraduate training from MIT and her Doctor of Medicine and Doctor of Philosophy degrees from the University of Massachusetts. Following that, she completed pediatrics residency at Boston Children’s Hospital. For the past several years, her research has focused on characterization of noncoding variants. She has received awards and honors for her research, including a Frederick Lovejoy award from Boston Children’s Hospital and a top abstract award from the ACMG. 

    Chris Burge, PhD

    Professor of Biology

    MIT

    Dr. Burge completed BS and PhD degrees at Stanford, where he developed the GENSCAN gene prediction algorithm that was used in the annotation of genes in the human genome, and did postdoctoral work on the evolution of splicing in the Sharp lab at MIT. He is currently Professor of Biology at MIT and Co-Director of MIT’s Computational and Systems Biology PhD Program.  His lab studies post-transcriptional gene regulation using computational and experimental approaches. 

    Kylee Spencer, PhD (Moderator)

    Assistant Editor

    American Journal of Human Genetics

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  • Contains 1 Component(s)

    Season 3, Voices in Genomics, with Katrina Claw, PhD.

    In this episode, host Eli Roberson, PhD interviews Katrina Claw, PhD, an assistant professor at the University of Colorado Anschutz Medical Campus. Dr. Claw shares her career, focused on research in genomics and pharmacogenomics, with an emphasis on underrepresented populations. She also delves into her community-based research approach and addresses the cultural, ethical, legal, and social aspects of genomic research. The episode explores Dr. Claw’s involvement in initiatives like the Summer Internship for Indigenous Peoples in Genomics Consortium and the PRIME program, which aims to mentor early-career indigenous faculty.

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  • Contains 2 Product(s)

    Season Three of Genetically Speaking

    This new season of Genetically Speaking explores perspectives and stories of genetic and genomic professionals who are balancing career work along with advocacy, allyship, or activism work around equity, justice, diversity, inclusion and more. The episodes feature in-depth interviews with individuals about their careers in science and research, as well as delving into their personal journeys, inspirations, and more.

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  • Contains 2 Component(s)

    Season 3, Voices in Genomics, with Jey McCreight, PhD.

    In the first half of the interview, host Eli Roberson, PhD interviews Jey McCreight, PhD, a science communicator with expertise in genomics. Dr. McCreight shares his journey from grad school to his current role at Verily, emphasizing a shift from research to a passion for communicating science. The conversation covers regrets and successes in his career, the importance of following one's passions, and the intersection of diversity, equity, and inclusion (DEI) with science.

    In the second half of the interview, they discuss topics related to balancing personal and professional life, navigating passion projects without burnout, and the challenges faced by individuals in the DEI (Diversity, Equity, and Inclusion) field. The conversation also delves into the complexities of sustaining DEI efforts in organizations, addressing setbacks, and more.

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  • Contains 1 Component(s)

    Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry.

    Sandra Soo-Jin Lee will discuss an empirical study of the use of population descriptors in precision medicine research and decision points in which investigators substitute and combine race and/or ethnicity and genetic ancestry. 

    Overview of Presentation:

    • The recent NASEM Report on the use of populations descriptors in genomics research recommends against use of race and ethnicity when indicating genetic ancestry.
    • Drawing on qualitative data on five PMR projects, we identify multiple points across the research life course at which conceptual slippage and conflation between race and genetic ancestry occur.
    • We illustrate points of negotiations within and between research teams as investigators deliberate on the relevance of race and genetic ancestry for different analyses and contexts.
    • We argue that moving beyond race will require confronting the entrenched ways in which race is built into research practices and biomedical infrastructures.




      Sandra Soo-Jin Lee, PhD

      Professor of Medical Humanities & Ethics and Chief of the Division of Ethics

      Columbia University

      Sandra Soo-Jin Lee, PhD, is Professor of Medical Humanities and Ethics and Chief of the Division of Ethics at Columbia University. She received her undergraduate degree in Human Biology from Stanford University and her doctorate in Medical Anthropology from the joint UC Berkeley/UCSF program. Dr. Lee’s research focuses on the ethical and social dimensions of emerging biotechnologies, including the use of race, ethnicity and ancestry in genomics, precision medicine and AI applications in healthcare.  She is Co-Director of the NHGRI funded Center for ELSI Resources and Analysis (CERA) and is President of the Association of Bioethics Program Directors. She serves on the editorial boards of the American Journal of Bioethics and Narrative Inquiry in Bioethics and is a member of the US Health and Human Services Secretary’s Advisory Committee on Human Research Protections. 

      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 3 Product(s)

      This series of three educational webinars will highlight scientific and ethical, legal and social implications (ELSI) perspectives on why the appropriate and responsible use of population descriptors matters in genomics research.

      This series of three educational webinars will highlight scientific and ethical, legal and social implications (ELSI) perspectives on why the appropriate and responsible use of population descriptors matters in genomics research. Panelists will provide their unique perspectives and guide group discussion using case studies as examples. 

      **Please read through the reading materials in advance of this interactive webinar series.

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    • Contains 1 Component(s)

      Christina Vallianatos, PhD, talks about ways to get involved in DNA Day.

      In this episode,  Andrew Marderstein, PhD, co-chair of ASHG's Career Development Committee, interviews Christina Vallianatos, PhD, a member of ASHG's Public Education & Awareness Committee. She shares her experiences with DNA Day, volunteering as a judge for ASHG's DNA Day essay contest, and more.

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    • Contains 8 Product(s)

      Episodes for the Trainee Excellence podcast are bundled here.

      Episodes for the Trainee Excellence podcast are bundled here.


      Music courtesy of Scott Holmes Music, available here

      License language here.

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    • Contains 2 Component(s)

      This webinar will cover the role of genetic technologies, how they have advanced over the decades, and what more there is to learn and develop. The presentations will also address how technologies lead to new ways of conducting genetic research.

      Genetic technologies reflect the progress of genetics research over the decades. With the exciting research discoveries come its implementation and integration on further research, health, and society. This webinar will cover the role of genetic technologies, how they have advanced over the decades, and what more there is to learn and develop. The presentations will also address how technologies lead to new ways of conducting genetic research.

       

      This webinar will be targeted for teachers, students, and the general public with at least a basic understanding of human genetics.

       

      Learning Objectives:

      • Provide overview of genetic technologies including gene editing, next generation sequencing, and RNA sequencing in cancer research.
      • Walk through the evolution of genetics and technologies.
      • Address potential pitfalls, including what we know and don’t know yet. 

      Arvind Kothandaraman, MBS

      General Manager of Multiomics and Specialty Diagnostics

      Revvity

      Arvind Kothandaraman’s work has revolved around development and deployment of tools that are vital for the improvement of human healthcare. He serves as the General Manager of Multiomics and Specialty Diagnostics at Revvity (formerly PerkinElmer) and has previously held positions at Thermo Fisher Scientific, Advanced Analytical (now Agilent Technologies) and BioReference Laboratories (now OPKO Health). His experience spans business management, product development, commercial engagement, operations, research, and development across life sciences discovery and diagnostics.

      Kothandaraman is passionate about bridging the gap between credible, actionable information and public awareness particularly in multifaceted areas like medical science. He considers every interaction to be a learning opportunity, greatly enjoys knowledge exchange and considers it to be an extremely effective method to invigorate the mind.

      Kothandaraman holds a master’s degree in business and science from the Claremont Colleges, California. He is an active member of the American Society of Human Genetics (ASHG) Public Education and Awareness Committee (PEAC).

      Nara Sobreira, MD, PhD

      Principal Investigator

      Johns Hopkins University

      Nara Sobreira, MD, PhD, is an associate professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies, and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She is one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data.

      Joseph Shen, MD, PhD (Moderator)

      Associate Professor

      University of California, Davis

      Dr. Joseph Shen is a geneticist with interests in neurodevelopmental disorders, clinical and molecular characterization of ultra-rare genetic conditions, and gene variant interpretation. He obtained his undergraduate degree from University of California, Berkeley, and his medical degree and doctorate in human molecular genetics from Case Western Reserve University in Cleveland, OH. His pediatrics residency and clinical genetics fellowship training was at Baylor College of Medicine in Houston, TX. Currently he is an Associate Professor in the Division of Genomic Medicine in the Department of Pediatrics at University of California, Davis.

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    • Contains 1 Component(s)

      Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.

      Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.

      Overview of Presentation:

      • Splice-altering variants are a frequent cause of hereditary disorders, but their impact is difficult to predict.  
      • RNA diagnostics of clinical samples can contribute to the classification of splice-altering variants. 
      • One in five human disease genes are not expressed in easily accessible cells and cannot be analyzed in this way.  
      • Using CRISPR activation to induce expression of the gene of interest in skin fibroblasts, we show proof of principle of a diagnostic tool to study such variants.  
      • CRISPR activation is rapid and easy to perform. 

       

      Thorkild Terkelsen, MD

      Postdoc and Resident in Clinical Genetics

      Aarhus University Hospital

      Thorkild Terkelsen is a resident medical doctor and postdoctoral research fellow in clinical genetics at Aarhus University Hospital and the Aarhus University Department of Biomedicine in Denmark. He obtained his undergraduate medical training from Aarhus University and the University of Sydney and will defend his PhD from Aarhus University in February 2024. Under the supervision of professor Uffe Birk Jensen, he has applied genome perturbation experiments such as CRISPR activation to study the effects of non-coding variants in easily accessible cells from individuals with rare diseases.

      Uffe Birk Jensen, MD, PhD

      Clinical Professor and Chair, Department of Clinical Genetics

      Aarhus University Hospital

      Uffe Birk Jensen is Clinical Professor and Chair at Department of Clinical Genetics, Aarhus University Hospital. He obtained his medical degree and PhD degree from Health Faculty at Aarhus University, Denmark. As a post doc he trained with Professor Fiona M. Watt at Cancer Research UK and studied the location of stem cells in a three-dimensional model of the human and mouse epidermis. He specialized in clinical genetics and became Clinical Professor in 2012. He works on rare disorders and how genetic variants outside the coding region of the genome causes disease. 

      Alyson Barnes, PhD (Moderator)

      Assistant Editor

      American Journal of Human Genetics

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