NHGRI logo

Center for Precision Health Research Seminar Series

Event Details

The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health. Speakers are selected by CPHR faculty and cover research topics of interest to a wide audience.

All seminars are free and open to the public. Seminar titles and other details are updated as information becomes available. For more information, please contact Les Biesecker at email lesb@nih.gov.


Upcoming Seminars

Past Seminars

Hybrid: Zoom Webinar (Requires Registration) and In-Person

Video Recordings

YouTube Playlist: CPHR Seminar Series Videos

Upcoming Seminars

TBD

Past Seminars

Uncovering fetal genetic disease: a focus on non-immune hydrops fetalis

May 23, 2024, 5:00 - 6:00 PM ET


Teresa Sparks

Teresa Sparks, M.D., MAS 
Associate Professor, Maternal-Fetal Medicine and Clinical Genetics 
Program Director, Maternal-Fetal Medicine Fellowship 
Co-Director, Women's Reproductive Health Research/K12 Program 
Division of Maternal-Fetal Medicine and Reproductive Genetics 
University of California, San Francisco

Dr. Teresa Sparks is an Associate Professor at UCSF who specializes in both Maternal-Fetal Medicine and Clinical Genetics. In her clinical practice, Dr. Sparks cares for individuals through the Prenatal Diagnosis Center and the Fetal Treatment Center who are pregnant or considering pregnancy, particularly those that are higher risk due to fetal birth defects, fetal genetic diseases, and maternal genetic as well as non-genetic diseases. Dr. Sparks is the Program Director for the Maternal-Fetal Medicine Fellowship at UCSF and is an active mentor for many post-graduate students, residents, and fellows. In her role as a physician scientist, Dr. Sparks oversees an active NICHD-funded research program focused on non-immune hydrops fetalis, is an Investigator for the UCSF Center for Maternal-Fetal Precision Medicine, serves as Co-Director of the NICHD-funded Women's Reproductive Health Research (WRHR)/K12 Program at UCSF, and serves as the alternate PI for the NICHD-funded Maternal-Fetal Medicine Units (MFMU) Network award at UCSF. Her overall research goals are to uncover the full breadth of genetic diseases underlying non-immune hydrops fetalis, characterize genotype-phenotype relationships for genetic diseases that present in the fetal period, develop a precision-based approach to care for non-immune hydrops fetalis and other fetal anomalies, and work toward the development of novel in utero treatment approaches for fetal genetic diseases.

Video Follow @teresansparks on X

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing

April 25, 2024, 5:00 - 6:00 PM ET 


Theodore Drivas

Theodore G. Drivas, M.D. Ph. D. 
Clinical Geneticist / Assistant Professor of Medicine 
Translational Medicine and Human Genetics 
University of Pennsylvania 

Assistant Director of Scientific Outreach 
Penn Medicine BioBank

Teddy Drivas is a Clinical Geneticist and an Assistant Professor of Medicine at the University of Pennsylvania in the Division of Translational Medicine and Human Genetics where he serves as the Assistant Director of Scientific Outreach for the PennMedicine BioBank. Through his clinical work, focusing on the care of adult patients with known or suspected genetic conditions, he has established himself as a dedicated advocate for the advancement of genetic testing in adult populations to improve patient outcomes and combat disparities and inequities in genetic medicine. Outside of the clinic, the Drivas Lab is engaged in pioneering research at the intersection of common and rare disease genetics, leveraging the latest in informatic, molecular, and translational research techniques to elucidate the complex genetic architecture that underlies human disease. The lab focuses on identifying and validating genetic pathways and interactions that act together to perturb fundamental cellular processes important to human health, with a particular focus on the complex cellular organelle known as the primary cilium, and its involvement in both rare syndromic and common complex disease pathogenesis.

Video Follow @tdrivas on X

Clinical and Research Strategies to Support Genomic Medicine

March 28, 2024, 5:00 - 6:00 PM ET


Heidi Rehm

Heidi Rehm, Ph.D.
Institute Member, Co-director of the Program in Medical and Population Genetics
BROAD Institute

Heidi Rehm, a human geneticist and genomic medicine researcher, is co-director of the Program in Medical and Population Genetics and an institute member at the Broad Institute. She is the chief genomics officer in the Department of Medicine at Massachusetts General Hospital (MGH), working to integrate genomics into medical practice with standardized approaches. She is also a professor of pathology at Harvard Medical School and faculty member of the Center for Genomic Medicine at MGH.

As a board-certified laboratory geneticist and medical director of the Clinical Research Sequencing Platform, she is guiding genomic testing for clinical and clinical research use. She is a leader in defining standards for the interpretation of sequence variants and a principal investigator of a major NIH-funded effort called ClinGen (Clinical Genome Resource), providing free and publicly accessible resources to support the interpretation of genes and variants.

Rehm also co-leads the Broad Center for Mendelian Genomics with Anne O’Donnell-Luria focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as a vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center, supporting the sequencing and return of results to a cohort of one million individuals in the U.S. and co-leading gnomAD, the Genome Aggregation Database.

Rehm is a board member of the American College of Medical Genetics and Genomics and the National Library of Medicine. She serves as an editor of the Cold Spring Harbor Molecular Case Studies journal and as an associate editor of the American Journal of Human Genetics. 

Video Follow @heidirehm on X

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 Monica Berger at bergerm@mail.nih.gov or the NIH Interpreting Office directly at nih@ainterpreting.com. Requests should be made at least five business days in advance in order to ensure interpreter availability.

Last updated: June 7, 2024