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Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
… Shirley Freeman is an Intramural Program Assistant for the Center for Research on Genomics and Global Health … under the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch at the National Human Genome Research …
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 …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… chief of genetics at Walter Reed National Military Medical Center and as the chief of cancer genetics at the Murtha … associate professor in pediatrics and the interim director for precision medicine at the Uniformed Services University … Phenotyping Core in the Center for Precision Health Research. He oversees the daily operations of the core and …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … RNA structure can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** Tanika Kelly*, Ana Ricardo, Maria … Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and Disease Study Site Disease Study Site** …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way … effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning …
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.
… copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … water checked for copper content. … Yes. Wilson disease is inherited in what doctors call an autosomal (not on the X … Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance National Organization for …
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. … Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS), both … the malfunctioning cells. … Gaucher disease is an inherited condition caused by alterations in the GBA gene. It …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP ). We accept … Ivona Aksentijevich if you would like to further discuss research opportunities. … FAQ for Providers and Researchers … FAQs for Autoinflammatory …
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 … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Diseases (TRND) , program, to create an integrated research pipeline to jump start the development of new …