Search Results
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … to lead long and productive lives. New medications and research into the causes of Crohn's disease are helping to … colectomy for uncontrolled bleeding, this is increasingly rare in Crohn's, especially with new immune therapies. … …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.
… The National Human Genome Research Institute (NHGRI) conducts a broad program of … of human biology and developing new methods for treating disease. … NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease. … Research at NHGRI …
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. … As you may know, the therapies that a child with … in children with mitochondrial disease. … Clinical Research …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Steven Benowitz … When the National Human Genome Research Institute and the National Heart, Lung, and Blood … There are an estimated 7,300 such conditions, which are rare and usually inherited, and typically caused by a … genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research accomplishments for a single, notable research achievement or a larger body of work of exemplary …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … disturbance and cognitive decline. … Huntington's disease (HD) is an inherited neurological illness causing … generations. Symptoms of HD generally appear in mid-life. Research: Unlocking the Mysteries of Huntington's Disease The …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth Defect, … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories into general medical practice. Now, two … These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … nervous system in babies with Tay-Sachs. Another avenue of research is gene therapy in which scientists transfer a …