Search Results
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… approaches for the integration of genomic discoveries into clinical and community contexts. … families. We conduct research at the intersection of genomics and the social and behavioral sciences and train the next generation of scientists and clinicians in this domain. Our ongoing research is aligned with the four …
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 patients with GD, this enzyme does not function correctly, … a buildup of that byproduct. The macrophages malfunction in different tissues, leading to hematological, skeletal, and …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see Protocol 19-HG-0059 … Identifier: NCT03854318 .  To learn more or enroll in the Natural History Study, email natalie.deuitch@nih.gov . … patients with germline RUNX1 mutations and their families in order to achieve better understanding of the disease …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
…   2024 Year in Review 1. Testing and managing iron overload after genetic … Actionable genotypes and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results … families 4. Chronic disease polygenic risk scores for clinical implementation in diverse US populations 5. Skeletal …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… scientists have sketched out what doctors need to know in order to use the new technology effectively. … Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of The New England Journal of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about …
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) es una técnica de laboratorio que se usa para … La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para … La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para …
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… The Genomics and Health Disparities Interest Group provides a … the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide … genomic research accelerates , understanding the role of genomics in disease risk and its integration into clinical …
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.
… Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … Assessment from 3-year Nitisinone treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and … and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort P058 Design of the …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… previously unsuspected disease states. Pediatricians, in particular, face complicated ethical questions about what … uncovers signs of possible genetic risk for disease in patients who are too young to give informed consent. … program, established in 2010 to speed the integration of genomics into clinical medicine, is funded by the National …
FAQ
Frequently asked questions from the November 2, 2022 webinar that provided an overview of the Funding Opportunity Announcement (FOA) for the AnVIL Clinical Resource (ACR)Â RFA-HG-22-021.
… of the ACR to provide functionality to return results to clinical research subjects?  Yes, the purpose of the ACR is to provide genomic-based clinical resources within the AnVIL platform to support clinical genomic research. … be prioritized?  No, but the applicant should be verse in the APIs available and which APIs AnVIL is currently using. …