Search Results
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… at the Dana-Farber Cancer Institute and professor of pediatrics at Harvard Medical School. He is the recipient of … E. Plon, M.D., Ph.D., professor at the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics, …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… is a very needed resource.  We have had some debate is pediatrics will be included, as our Children's Hospital is a …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… History. In collaboration with American Academy of Pediatrics and the American Academy of Otolaryngology-Head …
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… The University of Michigan Medical Center Department of Pediatrics, Genetics Division Term ends 6/2028 Pending …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… specialty paths to care for patients with rare diseases: pediatrics, internal medicine and genetics. Good luck, and … a specialty amenable to rare disease research, e.g., pediatrics, and then a fellowship, likely in genetics. If a …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… of Florida College of Medicine. She completed her pediatrics residency at the Children’s Hospital of Pittsburgh …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… combined programs, including a Combined Residency in Pediatrics and Medical Genetics as well as Combined … NIH and at other participating institutions. The Combined Pediatrics and Medical Genetics Residency Program , offered … genetic disorders. Participants gain broad experience in pediatrics, clinical and molecular genetics, metabolic …