Duke Genomic Seminar Series

A platform approach to develop and deploy CRISPR-Cas based experimental therapies for inborn errors of immunity in an academic/nonprofit setting

Thursday, February 8 | 2-3 p.m. ET | Bryan Neurobiology Research Building, Rm 103

Speaker: Fyodor Urnov, PhD
Professor of Molecular & Cellular Biology, University of California, Berkeley
Director of Technology & Translation, Innovative Genomics Institute

The vast majority of diseases clinically tractable by genome editing using current-state technology are not the targets of active preclinical or clinical development. Addressing this issue will require more involvement of the academic/nonprofit sector, but despite an existing charted path for advancing genome editing of specific cell types and tissues (such as T cells, hematopoietic stem cells, the liver, and the retina) to the clinic, there presently is only one open US IND for genome editing by an all-academic group. A key reason is that the current manufacturing, regulatory, and healthcare economics environment is not configured to maximize clinical impact of a technology like CRISPR-Cas. Under the framework that exists today, a pediatric patient newly diagnosed with a terminal illness such as a severe inborn error of immunity due to a never-before-seen but clinically editable mutation and a life expectancy of < 1 yr will have to wait ~3.5 years until a gene editing medicine is engineered, tested, and manufactured at an approximate total cost of $9m. An actionable path through this status quo is to develop and clinically derisk a dedicated nonclinical development path for use in academic/nonprofit settings in N=1/rare situations of dire medical need. From a technology standpoint, this will require comprehensive leveraging of the intrinsically platform nature of CRISPR-Cas gene editing. The Innovative Genomics Institute in close partnership with clinicians at UCSF and UCLA is developing such a platform focused on inborn errors of immunity, where ca 112,000 known patients suffering from 505 currently known diseases lack even a single open trial for genome editing open at the present time.

To learn more, visit Duke’s Genomic Seminar Series page.

Please note: This seminar series occurs quarterly with some events occurring virtually only and others in-person with streaming options.

Global Diversity, Local Context: The Role of Ancestry, Genetics, and Environment on Human Health

Global Diversity, Local Context: The Role of Ancestry, Genetics, and Environment on Human Health

Thursday, January 11 | 3-4 p.m. ET | In-person & Virtual

Speaker: Genevieve Wojcik, PhD, MHS
Genetic Epidemiologist and Assistant Professor of Epidemiology
Johns Hopkins Bloomberg School of Public Health

Dr. Wojcik’s research focuses on understanding the role of ancestry in genetic risk and developing solutions to address health inequities for diverse and admixed populations, as well as genetic susceptibility to infectious disease. Her most recent work explores the interaction of genetic ancestry and environment in admixed populations and downstream consequences for genetic risk prediction. Dr. Wojcik is a member of multiple NIH consortia, including the Population Architecture using Genomics and Epidemiology (PAGE) Study, the Clinical Genome Resource (ClinGen), and the Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium.

The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.

To learn more and register, visit the lecture series page.

Please note: Zoom registration is required for virtual attendees.

NASEM | Roundtable on Genomics and Precision Health – Strategic Plan Reflection on the Roundtable’s Work Since 2020

Roundtable on Genomics and Precision Health – Strategic Plan Reflection on the Roundtable’s Work Since 2020

Wednesday, November 15 | 12 p.m. ET | Online

The Roundtable on Genomics and Precision Health will host a virtual event to highlight the work of the Roundtable since the adoption of its strategic plan in 2020. Speakers will provide their perspectives on the goals and key takeaways heard from workshop and event speakers as well as look ahead to what comes next. Public events include:

  • Improving Diversity of the Genomics Workforce: A Workshop (2021)
  • Views & Voices: Reporting Genetics and Genomics (2022)
  • Realizing the Potential of Genomics across the Continuum of Precision Health Care: A Workshop (2022)
  • Next-Generation Screening – The Promise and Perils of DNA Sequencing of Newborns at Birth: A Workshop (2023)

The event will be accessible via webinar. Learn more and register on the event page.

PRS for the PCP: Evaluating polygenic risk scoring in primary care with clinical trials

Wednesday, October 18 | 3 – 4:15 p.m. ET | Online

Beginning September 2022, NHGRI will host a new seminar series based on its Genomic Innovator Award Program, which supports innovative work by early-career genomics investigators who are part of consortia or other team-science efforts. Each seminar will feature an early-career researcher and an established researcher. Their presentations will cover specific topics that showcase the creative ways that early-career investigators are accelerating genomics research.

Each seminar will include two speakers (each giving 20-minute talks) followed by a moderated Q&A session.

This seminar will be presented by speakers:

Katrina A.B. Goddard, Ph.D.
Director, Division of Cancer Control and Population Sciences
National Cancer Institute

Jason L. Vassy, M.D., MPH, M.S.
Associate Professor of Medicine; Clinician-Investigator; Founding Member of Precision Population Health
Harvard Medical School; Veterans Affairs (VA) Boston Healthcare System and Brigham and Women’s Hospital; Ariadne Labs

Please note: registration is required. Learn more and register on the Genomic Innovator Seminar Series website.

Training in Genomics & Precision Public Health

Thursday-Friday, September 7-8 | Online

Advances in genomics, data science, machine learning, and artificial intelligence are transforming practice. Next generation public health and medical workforces need to understand these developments and how they can be used to benefit population health.

Recognizing this challenge, Oak Ridge Institute for Science and Education (ORISE) is partnering with the Office of Genomics and Precision Public Health at the Centers for Disease Control and Prevention (CDC) to offer a free 2-day training event covering the latest developments in these fields: Current Issues in Genomics and Precision Public Health – Using Genomics and Big Data to Improve Population Health and Reduce Health Inequities. 

Learn more and register on the event website.

Pre-Application Webinar for the Investigator-Initiated Research in Genomics and Health Equity RFAs

Wednesday, August 23 | 12-1 p.m. ET | Online

NHGRI will host a pre-application webinar for the Investigator-Initiated Research in Genomics and Health Equity RFAs:  RFA-HG-23-017 and RFA-HG-23-018.

The purpose of these RFAs is to support investigator-initiated research in genomics and health equity, with the ultimate goal of developing approaches, generating and disseminating data, and implementing metrics or interventions that will advance the equitable use of genomics to improve health in U.S. populations.

Learn more and register on the NHGRI website.

The Clinical Geneticist Workforce: Challenges & Opportunities

Tuesday, August 29 | 3-4 p.m. ET | Online

The National Human Genome Research Institute is conducting Zoom-based “listening sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. This last session in the series will be co-moderated by Drs. Ben Solomon, Wendy Chung, Shoumita Dasgupta and Deb Regier.

Learn more and register on the NHGRI website.

Scientists release a new human “pangenome” reference

Posted on by Alexis

Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

The new “pangenome” reference includes genome sequences of 47 people, with the researchers pursuing the goal of increasing that number to 350 by mid-2024. With each person carrying a paired set of chromosomes, the current reference actually includes 94 distinct genome sequences, with a goal of reaching 700 distinct genome sequences by the completion of the project.

Read the full press release on the NHGRI website.

NHGRI Division of Intramural Research Seminar

Thursday, June 22 | 2 – 3 p.m. | Bethesda, MD & Online

The Division of Intramural Research (DIR) sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research. Speakers are selected by NHGRI intramural faculty and trainees and cover research topics of interest to a wide audience.

All seminars are free and open to the public. Registration is required for the webinar.

June 22 Speaker:

Harmit Malik, Ph.D.
Professor and Associate Director
Basic Sciences Division
Fred Hutchinson Cancer Center

View past presentations and learn more about upcoming seminars on the DIR seminar series website.