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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
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.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. … Team … Current Research and Resources … Gaucher Disease Clinical Studies at NIH … Gaucher Disease Clinical Studies at …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the … the UDP. In return, patients provide UDP researchers the opportunity to gain new insights about genetic 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 … the fields of hematology and oncology because of the rare opportunity to monitor the genomic evolution of cancer from a …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… “The promise of genomics cannot be fully achieved without successfully … workforce of genome scientists in basic, behavioral, clinical and social science research.  iSPRinG … Summer Program for Research in Genomics (iSPRinG) … An opportunity for students to receive individualized research …
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.
… 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 … Visit with NHGRI staff at Booth #827 in the convention center to learn more about our research, programs, career and …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … program, established in 2010 to speed the integration of genomics into clinical medicine, is funded by the National …
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.
… scientific leadership and shape direction of computational genomics in institute’s Intramural Research Program. … The … Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the … and provide mentorship for researchers within the Center. Since joining NHGRI in 2015, Dr. Phillippy has been …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lin Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National Human Genome … Vitae … Biography … Related Projects … Lin Lei … Lin Lei, Center for Research on Genomics and Global Health, zebrafish, …
Staff
Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health.
… Ph.D. … Karlijn A.C. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health (CRGGH). She received her Ph.D. in … A.C. Meeks, Ph.D. … Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health. … Dr. …
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… availability. … Request an Accommodation … The NHGRI Center for Precision Health Research (CPHR) sponsors a … and In-Person … MD … 50 South Drive … Room 1227 … Center for Precision Health Research Seminar Series … The NHGRI Center for Precision Health Research sponsors a monthly …