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Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug response. His … Chief of the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch in 2014 and stepped down in 2021. …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year … a complementary training program in the genetic basis of disease, both adult and pediatric, including cytogenetic, … Prenatally Diagnosed Anomalies, Genetic And Metabolic Disease, Healthy Pregnancies, High-risk Pregnancies, …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease
Archive
… Undiagnosed Diseases Program (UDP) Discovers a New Disease … Archive …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While …
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 … Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated autoinflammatory disorders …
Clinical Research
The 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), an NIH Common Fund initiative that … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry … role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the  NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from  Sonia Vallabh and Eric Minikel . After a …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the …