Search Results
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and … rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by the National Human … contacted GARD, as have people who are taking part in a clinical study. Community leaders looking to help people find …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… What are the opportunities and challenges for ML in genomics research? Moderator: Shannon McWeeney, Ph.D. , … a.m. - Brad Malin, Ph.D. , Vanderbilt University Medical Center Challenges and Opportunities for Machine Learning in … Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … Liaison Office National Institues of Health Clinical Center Phone (Toll Free): 800-411-1222 TTY: (Toll-Free) …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online collection … pharmacogenomics," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "The new …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… our COEH cohort and better characterize the vascular and clinical phenotype of gene variant carriers.    Severe … Distinguished Scholar. …  The CCDGS is a translational genomics research lab using human genetics and genomics to … … Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry will be the focus of an … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need …
Research Funding
NHGRI solicits grant applications related to its scientific priorities and welcomes investigator-initiated applications.
… Genome Sciences Division of Genomic Medicine Division of Genomics and Society Division of Extramural Operations  … Request for Applications (RFA) Describe an institute's or center's interest in receiving applications in specific … for those interested in a customized list of NIH Funding Opportunity Announcements. On the NIH Guide Advanced Search …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, it was charged … in New Haven, and principal investigator of the Yale center. "One question was whether the major task at hand was … of challenges ahead in identifying and understanding the genomics of Mendelian disease. "The only way that the centers …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … School of Biomedical Science at M.D. Anderson Cancer Center and her M.D. from the University of Texas Health … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders …