Search Results
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… which breaks down a normal metabolic byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… technologies, genome sequencing carries the possibility of incidental or "secondary" findings that can reveal … previously unsuspected disease states. Pediatricians, in particular, face complicated ethical questions about what … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing … including: Tracking genome sequencing and analysis costs; data production and deposition; project completion Being a … Investigator: Richard Wilson, Ph.D.  Broad Institute of MIT and Harvard , Cambridge, Massachusetts Principal …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us … Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples … An observational study P712 A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… …  Step 1: Referral for participation in a clinical trial  If you are referred to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will … gene therapy for sickle cell disease. We encourage you to use these educational materials to talk with your healthcare …
Talking Glossary
La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN especÃfica en un cromosoma.
… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) … sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide … matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… to provide scientific leadership and shape direction of computational genomics in institute’s Intramural Research … the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its …
Event
NHGRI holds a pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 1, 2023 at 2:00 pm ET.
… during the webinar and are encouraged to email questions in advance to Dr. Shurjo Sen at sensh@mail.nih.gov . … … … NHGRI holds a pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002 , for potential … Broadening Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI holds a pre-application …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… NHGRI's first Chief Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide … she initiated and established initiatives focused on the use of high-throughput "omics" technologies, the development …
OGDS
NHGRI held a second pre-application webinar for potential applicants on the Broadening Opportunities for Computational Genomics and Data Science Education NOFO on September 27, 2023 at 2:00 pm ET.
… during the webinar and are encouraged to email questions in advance to Dr. Shurjo Sen at sensh@mail.nih.gov . … … held a second pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002 , for potential … Broadening Opportunities for Computational Genomics and Data Science Education NOFO … NHGRI held a second …