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News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … Ph.D., NHGRI clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of … of a patient who is part of the Undiagnosed Diseases Network, will answer questions about rare diseases when they …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … to any neurological disease in humans. “Among genetic diseases, we’ve solved many of the lower hanging fruits,” … Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… eMERGE Network will support multiple clinical sites and a … Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish protocols and methodologies for … and management methods for a number of common diseases. Approximately half of the clinical sites will …
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.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … The exact cause for many rare diseases remains unknown. Still, for a significant portion, …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… The Implementing Genomic in Practice (IGNITE) Network was established in 2013 ( RFA-HG-12-006 , … in diverse clinical settings. The first phase of the network, IGNITE I , was a consortium of collaborative … , RFA-HG-17-009 , and RFA-HG-17-010 ) began in 2018. The network comprises five multi-site Clinical Groups (CGs) and …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN) has been working towards creating a model … the framework for how this can be successful. See: The Undiagnosed Diseases Network: Accelerating Discovery about Health and … Accelerating Diagnosis of Rare Diseases …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth … Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. Frequently asked questions … applicants should expect to return all results that the Network determines actionable based on the Network’s collective expertise. Should applicants include a …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … Research Institute (NHGRI) Genomics and Randomized Trials Network (GARNET) program ( …