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Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and … Genes, Cancer, Heart Disease, Gene-environment Interactions … influences of the physical and social environment. For this reason, complex diseases are also called … is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include heart …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… and deposition; project completion Being a resource for logistics and communication among GSP program … archiving working group documents) Coordinating outreach for the GSP, including program webpages Developing specifications for common controls for rare variant association studies …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… Institutes of Health has awarded grants to six medical centers around the country to select from the most … program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and … (pending available funds) to each of the six medical centers around the country. James M. Anderson, M.D., Ph.D., …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… are not majoring in the sciences, I focused on how genomics is increasingly relevant in our everyday lives. It … give this lecture in the Sisters Chapel, a historic site for many reasons including being the place where the late Dr. Martin Luther King, Jr. lay in state for two days in 1968. I was also excited to speak at …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… elements of informed consent that are required by the Common Rule (45 CFR 46, Subpart A) and that are relevant to genomics. It also provides sample language that can be used … This Research Study Being Done? [Examples:] We are asking for your permission to collect samples and health information …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… is critical. All of these factors contribute to a need for new and more innovative approaches, including new … and funding mechanisms. The creation of research centers with the resources and expertise to design and … to support other related research). Add value beyond the genomics and ELSI research studies that are already ongoing …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… Ph.D., is a Program Director with overall responsibility for the NHGRI Genome Sequencing Program (GSP), and specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases …
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 those that make a difference in disease susceptibility or in other traits. The awards are for three years each and total approximately $13 million, …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… methods as applied to mapping quantitative trait loci for obesity in model organisms. He contributed code to the R … influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. Curriculum Vitae … B., He, X., Corey, L., and Mullins, J. I. 2002. Selection for human immunodeficiency virus type 1 recombinants in a …
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 characterized by a slowly progressive degeneration of … 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 …