Search Results
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 … role of genomics in disease risk and its integration into clinical care is increasingly important to critically examine …
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, … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …
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 … No, as an enrolled patient on an NIH protocol, all your care at the NIH clinic is free of charge. Your insurance will …
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 … consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … program, established in 2010 to speed the integration of genomics into clinical medicine, is funded by the National …
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 … de ADN especÃfica en un cromosoma. … Fluorescence in situ hybridization (abbreviated FISH) is a laboratory …
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, … research and the latest advances in medical genetics, genomics and personalized medicine.  The conference will …
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 … you may leave the hospital and move to outpatient care. Make sure you know about potential complications. …  … …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… National Institutes of Health (NIH) grants aim to gauge if genomics can be used to help diagnose diabetes, keep heart … than $11 million, are part of the Implementing Genomics in Practice (IGNITE) program administered by the National … of clinicians and information scientists will conduct a clinical trial of approximately 6,000 patients to measure …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through … part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is encouraging NIH … genomic medicine by increasing the use of genomic data in clinical research. CCGO is co-sponsored 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 … be prioritized?  No, but the applicant should be verse in the APIs available and which APIs AnVIL is currently … existing AnVIL awardees eligible to submit applications in response to the ACR FOA?  Applications from institutions …