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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… research that will have a direct impact on patients with genetic disorders. Ms. Iriele's summer project was to assist … around the world. "In Nigeria, there is a high rate of genetic malformations due to a high fertility rate," said Ms. … mine, that don't have the infrastructure or resources for genetic screening." This summer, Ms. Iriele focused on …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Professional Development Programs
GCTP faculty instructors.
… Bloomberg School of Public Health Morgan Similuk, Sc.M. Genetic Counselor National Institute of Allergy and … Diseases, NIH Jennifer Johnson, Ph.D. Staff Scientist Genetic Disease Research Branch National Human Genome … School of Public Health Dana Petry, Sc.M., C.G.C. Genetic Counselor Johns Hopkins Hospital Elizabeth A Platz, …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… 2022. Gahl WA, Adams DR Markello TC, Toro C , Tifft CJ. Genetic approaches to rare and undiagnosed diseases. Nelson …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… genetics Learn about genomic sequencing and management of genetic disorders Participate in supervised clinical, …
News Release
NHGRI and other NIH institutes recently participated in the high-energy science communications contest called the Three-minute Talk.
… Office director and senior investigator for NHGRI's Genetic Disease Research Branch. "These scientists are still … Branch); Melissa Harris (Research Fellow, Pavan group, Genetic Disease Research Branch). NHGRI TmT … to R: Senta Kapnick (Graduate Student, Schwartzberg group, Genetic Disease Research Branch); Brenna Labarre (Graduate …
Jobs at NHGRI
Funded postdoctoral positions are available in the laboratory of Dr. Shawn Burgess, within NHGRI's Translational and Functional Genomics Branch.
… There are multiple projects available to pursue involving genetic analysis with high-throughput mutagenesis approaches, …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… diseases: their natural history, diagnosis, treatment, and genetic causes. She was involved in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… explore the pathophysiology and develop new therapies for genetic and metabolic disorders. During her training as a …