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The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Administration (FDA), which approved two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people … cell disease, and this treatment offers great promise for improving many lives. This afternoon, Genevieve Wojcik, …
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 …
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 …
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. ​ …
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 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 …
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 …