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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
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.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced … for exploring how the genome plays a role in human disease," said NHGRI Director Eric Green, M.D., Ph.D. "Our …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ … Branch Chief Charles Rotimi, …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover … Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated autoinflammatory disorders …
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.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … in the journal Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … contribute to increased risk or protect against the disease. The NIH awarded grants for using innovative new … into why some people with known risks do not develop the disease. … The awards, expected to total $24 million over …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope …
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.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug … successfully corrected the malfunctioning cells. … Gaucher disease is an inherited condition caused by alterations in …
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.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. … risk of common diseases such as stroke, cardiovascular disease and dementia. Homocysteine is a breakdown product of …