Search Results
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 … review medical records to determine if the participant’s medical history is consistent with an autoinflammatory …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … individual- and population-level approaches. The center's scientists develop genetic epidemiology models that explore …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… said James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … provide patients and their families access to the nation's leading diagnostic teams and sophisticated diagnostic … York City Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General …
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 … represents an important step in the evolution of NHGRI's long-standing, flagship Genome Sequencing Program (GSP). In its earliest phase, the GSP represented NIH's major contribution to the Human Genome Project. As DNA …
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). … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … 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.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
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 letters in a cell's DNA-may contribute to increased risk or protect against the … that have been at the forefront of research in Alzheimer's genetics: University of Pennsylvania, Philadelphia; Case …
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 … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the …
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 … M.D., clinical investigator and staff clinician in NHGRI's Medical Biochemical Genetics Residency Program . "Our work …
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 … factor for developing the more common disorder Parkinson's disease. NHGRI also coordinated a large international study …