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News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … can be difficult to decipher because they result from a complex combination of genomic influences and environmental …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… are the genetics’ underlying traits? What makes them so complex? My laboratory is committed to teasing apart some of … the complexities of biology. “That you can get such complex systems starting with the simple rules of genetic …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… understanding of the genetic variants involved in this complex and devastating disease and to the shared goal of … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
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 … participants in the FHS, a remarkable result given the complex nature of methionine metabolism and its impact on …