Search Results
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… researchers to develop new computational approaches for searching among millions of genomic variants to find … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), … and R01CA197139. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership between the … a free, online collection of more than 500 materials for use in the classroom and for self-directed learning of genetics and genomics concepts …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease … in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including … a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… The Center for Research on Genomics and Global Health (CRGGH) … human genetic variation and population differences in disease distribution, with the ultimate goal of informing … models that will explore the patterns and determinants of common complex diseases in populations in the United States …
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 of materials for self-directed learning in genetics and genomics, now … Ethical, legal and social implications Genetics and disease Implementation of pharmacogenetics/pharmacogenomics …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… recover the cost of developing and producing treatments for these diseases. Another reason neglected diseases are not … the United States with high rates of poverty.  … The most common type of neglected diseases are tropical diseases. Many … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, 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.
… a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior … July 12, 2016 NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… or protect against the disease. The NIH awarded grants for using innovative new technologies and computational … $24 million over four years, go to eight academic medical centers that have been at the forefront of research in … that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. … accompanying consents and support documents in preparation for submission to the IRB for initial review. Assistance with writing, editing and …