Search Results
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, … In most cases the other copy of the gene makes up for the one that does not work properly and we are healthy. A …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … Wilson disease is a rare genetic condition that affects about one in … copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … can lead to organ damage that may cause death. Other names for Wilson disease include copper storage disease, …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… recover the cost of developing and producing treatments for these diseases. Another reason neglected diseases are not considered high priorities for prevention or treatment is because they usually do not … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … 2024. NOT-OD-24-134 : Extramural Loan Repayment Program for Clinical Researchers (LRP-CR) NOT-OD-24-135 : Extramural Loan Repayment Program for Pediatric Research (LRP-PR) NOT-OD-24-136 : Extramural Loan Repayment …
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 … A referral clinic established at the NIH Clinical Center has evaluated more than 1,700 patients with known or … affected subpopulations. The branch houses the Center for Research on Genomics and Global Health, which advances …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lin Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National … Lin Lei, Center for Research on Genomics and Global Health, zebrafish, … Lin Lei, Center for Research on Genomics and Global Health, zebrafish, … ​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​ …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might …
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 … family members. Unfortunately, we receive more requests for participation than we can accept. Our study team will …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long … epilepsy, confusion and dementia. The pain can last for hours, can be paroxysmal (occurring only at certain …
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.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS), both … Gaucher disease were an important genetic risk factor for developing the more common disorder Parkinson's disease. …