Search Results
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain … The Clinical Center hosts a wide range of studies from rare diseases to chronic health conditions, as well as …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms … to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from people …
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 …
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
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 …
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 …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … drug treatment, improved medical care and aggressive research, half of sickle cell patients live beyond 50 years. …