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… and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education … ACMG has entered into an agreement with the US Food and Drug AdministrationÕs Center for Devices and Radiologic … genetic services across the lifespan and across healthcare delivery systems. At the time of the rollout of the ACA and …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… between identifying this molecule and having an approved drug." Dr. Sidransky has conducted research on Gaucher … down cellular waste. In a process known as high-throughput drug screening, researchers at NCATS Chemical Genomics Center … see if it might be developed into an appropriate prototype drug for patients with Gaucher disease and Parkinson's …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… for the vast majority of rare diseases. The Orphan Drug Act of 1983 provides incentives for drug companies to develop treatments for rare diseases. In … the Act was signed into federal law, the U.S. Food and Drug Administration (FDA) has approved more than 340 …
Office of Genomic Data Science
NHGRI is committed to increasing the availability of educational and research opportunities in computational genomics and data science (CGDS).
… burdened by disparities in health status and health care delivery, including racial and ethnic minority groups, …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… more people. That's why at this time, the U.S. Food and Drug Administration (FDA) labeling for tamoxifen does not … Resources: The Mayo Clinic - Pharmacogenomics: The Right Drug, for the Right Patient, at the Right Dose Mount Sinai … Pharmacogenomics Implementation Consortium (CPIC®) - Gene/Drug Clinical Practice Guidelines PharmGKB: Knowledge Base on …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… clinical trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… to genomics: " pinpoint gene editing ," " a cancer drug's broad swipe ," and " gene therapy triumph ." Nature's …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… as well as provide animal models for future studies of drug intervention. Dr. Pavan’s group continues to identify … adeno-associated virus vector types (AAV9) and also varied delivery methods to NPC1 mouse mutants, then evaluating …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… alterations in head and neck cancers, new potential drug targets  (2015)  TCGA study improves understanding of … r  (2014)  TCGA bladder cancer study reveals potential drug targets, similarities to several cancers r  (2014)  As … cancers  (2013)  TCGA researchers identify potential drug targets, markers for leukemia risk  (2013)  Study …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… had little effect on the patients, one biological drug called tocilizumab did. Tocilizumab, a drug that suppresses the immune system, reduced the severity …