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  • Contains 1 Component(s) Includes a Live Web Event on 03/13/2024 at 12:00 PM (EDT)

    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. 

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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)

      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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    • Contains 1 Component(s)

      A career exploration with Clement Chow, PhD.

      Clement Chow, PhD, sits down with Chris Gunter, PhD, to discuss what can be learned from failure, job searching, and what it means to humanize the sciences through social media.

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    • Contains 1 Component(s)

      Hosted by ASHG’s Career Development Committee, join this hour-long webinar and learn all about what goes into building your own business, key roles and responsibilities, becoming an investor in a biotech company, and so much more.

      Do you want to know what it’s like to begin a start-up company or work in venture capital? Hosted by ASHG’s Career Development Committee, join this hour-long webinar and learn all about what goes into building your own business, key roles and responsibilities, becoming an investor in a biotech company, and so much more. Joined by three experienced panelists, you will get to hear them talk about their experiences, learn tips and end the webinar with an open Q/A session with the panelists themselves. 

      Dr. Adam Hansen

      Principal Investigator, Founder, and CEO

      Geneial

      Dr. Adam Hansen is an accomplished scientist and entrepreneur who has dedicated his career to relieving human suffering through the advancement of precision medicine. He founded and leads Geneial, a private exchange for genetic and patient-reported outcomes data. Less than two years after completion of his doctoral training, Dr. Hansen and team were awarded a $2.3M fast-track Small Business Innovation Research (SBIR) grant from NHGRI. He serves as Principal Investigator, Founder, and CEO at Geneial and is a co-inventor of three international patent applications (pending).

      Liz Todia

      Principal

      Mutual Capital Partners

      Liz Todia is a Principal at Mutual Capital Partners, a Cleveland-based venture capital fund that invests in healthcare IT and medical device companies. Liz manages all deal flow and due diligence for the fund, as well as supporting portfolio companies and overseeing LP relations. She has been on the team since graduating from the University of Dayton in 2017 where she received a BS in Entrepreneurship and Finance with honors.  Prior to joining Mutual Capital Partners and while at Dayton, she spent two years managing the Flyer Angels Fund, a $1 million seed investment fund investing in early stage, Ohio-based technology companies. Liz currently serves as Executive Co-Chair of the nonprofit VentureNext, the premier peer group of rising venture capital investors that work with, manage, and run venture capital investment funds. Under Liz’s leadership the group has grown to over 200 funds across the country with a collective $59B AUM, and has been responsible for over $800M of syndication in investments across the Midwest. 

      Noah Wolfson

      VP of Program Management

      Arnasi Group

      Noah Wolfson is a biotech professional with 15+ years managing program execution in the biotech, consulting, and academic spaces.  After getting his PhD in biochemistry from the University of Michigan Noah went on to hold a number of positions in companies including Ophthotech, Molekule Consulting, Aceragen, and Arnasi Group. During his time at these organizations he helped developed medical and commercial strategies for 8+ commercial and pre-commercial medical products.

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    • Contains 1 Component(s)

      A career exploration with Tiffany Oliver, PhD.

      Tiffany Oliver, PhD, joined us to discuss constructive mentoring and her career balancing research and teaching – as well as the future of genetics and diversity, and what keeps her busy outside of the lab and classroom.

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    • Contains 1 Component(s)

      A career exploration with Kyle Brothers, MD, PhD.

      Get to know PPSI’s Kyle Brothers, MD, PhD while he discusses the path to a career involving bioethics, a love for science fiction, and more serious things like genetic determinism and the difficulty of involving a community in the discussion of future genetics issues.

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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)

      A career exploration with Mila Mirceta, PhD.

      What’s it like to finish your PhD? Find out with Mila Mirceta, PhD, as she discusses her work with Genetically Speaking’s host, Chris Gunter, PhD, diving into this and other topics like ASHG committees, the benefits of a good hobby, and advice for Trainees.

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    • Contains 1 Component(s) Recorded On: 01/10/2024

      Dominique Brooks will discuss pre-clinical data for two therapeutic leads for the treatment of phenylketonuria.

      Dominique Brooks will discuss pre-clinical data for two therapeutic leads for the treatment of phenylketonuria.   

       

      Overview of Presentation:

      • The c.1222C>T (R408W) variant in the phenylalanine hydroxylase gene (PAH) is the most frequent variant of phenylketonuria (PKU).  
      • The c.1222C>T variant is amendable to corrective editing by base editing and prime editing.  
      • Using a prime-edited hepatocyte cell line and a humanized PKU mouse model, we demonstrate efficient in vitro and in vivo correction of the c.1222C>T variant with base editing and prime editing.  
      • Whole-liver corrective editing results in complete normalization of blood Phe levels.  
      • Base editing and prime editing are viable therapeutic strategies to treat the c.1222C>T PKU variant. 



      Dominique Brooks, BS

      Graduate Student

      University of Pennsylvania

      Dominique Brooks is a third-year Ph.D. student in the Gene Therapy and Vaccines Program at University of Pennsylvania. Her research focuses on the development of gene-editing therapies aimed at addressing metabolic diseases, with a specific focus on phenylketonuria. Dominique earned her Bachelor of Science degree from University of Maryland, Baltimore County and distinguished herself as a Meyerhoff Scholar, Howard Hughes Medical Institute Scholar, MARC (Maximizing Access to Research Careers) Scholar, and Barry Goldwater Scholar. Beyond her academic pursuits, Dominique is an IDEAL (Inclusion, Diversity, Equity, and Learner) Research fellow and outreach co-chair for the E.E. Just Biomedical Society where she is an advocate for the advancement of science and education, particularly for those from underrepresented backgrounds. 

      Kiran Musunuru, MD, PhD

      Professor of Cardiovascular Medicine and Genetics

      Perelman School of Medicine at the University of Pennsylvania

      An actively practicing cardiologist and committed teacher, Kiran Musunuru, M.D., Ph.D., M.P.H., M.L., is Professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the genetics of cardiovascular and metabolic diseases and seeks to identify genetic factors that protect against disease and use them to develop gene-editing therapies. He recently served as Editor-in-Chief of the scientific journal Circulation: Genomic and Precision Medicine. He is author of The CRISPR Generation: The Story of the World's First Gene-Edited Babies and Genome Editing: A Practical Guide to Research and Clinical Applications. He is co-founder and Senior Scientific Advisor of Verve Therapeutics. 

      Jessica Chong, PhD (Moderator)

      Deputy Editor

      HGG Advances

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