Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … At the National Institutes of Health, we are interested in research. Although we are happy to provide advice for people … D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable opportunity for medical school … Combined residents gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and … perinatal medicine. In the 5th year, residents work on a research project of their choosing or focus on a clinical …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health. … $1000 Genome Program Genetic Association Information Network (GAIN) … (IGNITE) Knockout Mouse Program (KOMP) Large-Scale Genome Sequencing and Analysis Centers (LSAC) Model Organism …
Research Training
Competitive scholarships for students from disadvantaged backgrounds to support careers in biomedical, behavioral and social science health-related research.
… Institutes of Health (NIH) Undergraduate Scholarship Program (UGSP) offers competitive scholarships to students … biomedical, behavioral, and social science health-related research. … The UGSP offers scholarship support, paid research training during the summer, and paid employment and …
Clinical Research
A study for patients with unexpected genetic results
… testing done for some other reason. … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” … discover other treatable health conditions … The NIH Clinical Center is located in Bethesda, MD (near Washington, …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… The JHU/NIH Genetic Counseling Training Program prepares students for a Master of Science degree … a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion of an original research thesis. The program qualifies graduates to attain …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … As genomic technologies have advanced and the cost of sequencing has decreased , it has become feasible to produce … consortium were incorporated into the Clinical Sequencing Exploratory Research ( CSER) consortium Among other aspects …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the … a diagnosis: from one week to 10+ years. Types of genomic sequencing performed: Family genome sequencing, SNP-array …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … grants, which total approximately $14.5 million to eight research teams over two to four years as funds become … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …