Search Results
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… (HGP). In addition to creating an essential resource for biomedical research, the HGP helped define NHGRI's niche: … to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases … and in some cases, co-funding from other NIH institutes for work in particular disease areas. At present, the …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … Crohn's disease, an idiopathic (of unknown cause), chronic … to lead long and productive lives. New medications and research into the causes of Crohn's disease are helping to increase the quality of life for people who have Crohn's disease. …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
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 …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… The goal of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research is to advance the frontiers of genetics and genomics. … translation of genomic knowledge into tools and approaches for improving the treatment, prognosis, and prevention of …
Clinical Research
The NIH 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). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the NIH …
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 some individual benefit, such as diagnosis of a disease or access to a treatment in development. …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, Inherited, Mutation, Protein, Recessive … genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… Tenn., in 1999. During his Master's study, he was a research assistant in the Bureau of Business & Economics … Rotimi laboratory from Howard University and joined the Center for Research on Genomics and Global Health (CRGGH), National … Bonney, and Charles Rotimi. Gene Copy Number Analysis For Family data Using Semiparametric Copula Model: …
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 … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … nervous system in babies with Tay-Sachs. Another avenue of research is gene therapy in which scientists transfer a …