Genomic Innovator Seminar Series
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 focus on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with a more senior researcher whose work relates to the research area, to provide additional context. Since these awards support highly innovative work by early career genomics investigators who are part of consortia or other team-science efforts, the series will highlight critical emerging topics in genomics. Attendees will learn about creative endeavors with great potential to accelerate research and have the chance to ask questions of some of the brightest minds in genomics.
Each seminar will include two speakers (each giving 20-minute talks) followed by a moderated Q&A session. The sessions, which will be held via Zoom for the foreseeable future, will be open to the public and video recorded for later viewing on the GenomeTV channel of YouTube.
Zoom Webinar (Requires Registration)
Data-driven approaches to define rare genetic diseases
March 23, 2023, 3:00 - 4:15 p.m. EST
- Melissa Haendel, Ph.D., FACMI
Chief Research Informatics Officer
Marsico Endowed Chair in Data Science
University of Colorado Anschutz Medical Campus
Dr. Melissa Haendel is the Chief Research Informatics Officer and Marsico Endowed Chair in Data Science at the University of Colorado Anschutz Medical Campus; the Director of the Center for Data to Health (CD2H); and the Principal Investigator of the National COVID Cohort Collaborative (N3C). Her background is in molecular genetics and developmental biology as well as translational informatics, with a focus over the past decade on open science and semantic engineering. Dr. Haendel’s vision is to weave together healthcare systems, basic science research, and patient-generated data through development of data-integration technologies and innovative data capture strategies. Dr. Haendel’s research has focused on the integration of genotype-phenotype data to improve rare-disease diagnosis and mechanism discovery. She also leads and participates in international standards organizations to support improved data sharing and utility worldwide.
- Jessica Chong, Ph.D.
Assistant Professor, Division of Genetic Medicine
Department of Pediatrics
University of Washington School of Medicine
Jessica obtained her Ph.D. in human genetics at the University of Chicago, mentored by Carole Ober, where she studied genetic variants that cause common traits and rare diseases in a founder population. She then joined Michael Bamshad’s lab at the University of Washington, where she helped establish the University of Washington Center for Mendelian Genomics. From 2011 to 2020, the center contributed to the discovery of hundreds of genes associated with rare diseases using exome sequencing at scale. Dr. Chong recently started her own lab at the University of Washington, where she is co-investigator in the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) consortium.
Dr. Chong is highly committed to encouraging open data sharing in science and especially in the rare disease genetics field. During her time at the Center for Mendelian Genomics program, she developed MyGene2, an award-winning web-based platform for publicly sharing genomic and phenotypic data used by families, clinicians and researchers. More recently, she helped launch and became deputy editor of the open access journal Human Genetics and Genomics Advances, published by the American Society of Human Genetics.
Playing genomic battleship with CRISPR technologies to uncover non-coding functional elements and their phenotypic effects
September 29, 2022, 3:00 - 4:15 p.m. EST
- Luca Pinello, Ph.D.
Harvard Medical School & Massachusetts General Hospital
- Karen Mohlke, Ph.D.
University of North Carolina
Request an Accommodation
This event will be presented with real-time captioning. American Sign Language interpreting services are available upon request. Individuals who need interpreting services and/or other reasonable accommodations to participate in this event should contact Britny Kish at email@example.com or the NIH Interpreting Office directly at firstname.lastname@example.org. Requests should be made at least five business days in advance in order to ensure interpreter availability.
Last updated: March 28, 2023