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News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … leg ulcers. Participants will be seen at the NIH Clinical Center in Bethesda, Maryland. "We have organized a … risk," said Dr. Koehly. "We want to build the foundation for understanding how families communicate with and provide …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Jie Zhou is a Data manager and SAS programmer at the Center for Research on Genomics and Global Health (CRGGH). She is a … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1;5(3):75-80. …
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 … of African ancestry. … Autosome, Birth Defect, Gene, Inherited, Mutation, Protein, Recessive … Sickle cell disease … genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain … to commit? This very much varies from study to study. For any study you are considering, it is important that you … ] NIH Clinical Research Studies At the NIH Clinical Center in Bethesda, Maryland The NIH maintains an online …
Diversity Center
Meharry Medical College establishes a Diversity Center for Genome Research (DCGR) that will narrow inequitable representation gaps for underrepresented, disadvantaged minority by realizing their vision to promote African ancestry genomic research through infrastructure building and the formation of basic, clinical, and computational science research teams that are inclusive, interdisciplinary, and community-engaged.
… Medical College (MMC) is committed to bridging the gaps for underrepresented, disadvantaged minority (URM) groups by establishing a Diversity Center for Genome Research (DCGR). The Diversity Center will … the college’s other ongoing genomics initiatives. Genotype-disease associations for African ancestry-specific, …
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 … Staff and the SAP at an annual meeting. A coordinating center has been funded and established at Rutgers University …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.
… The National Human Genome Research Institute (NHGRI) conducts a broad program of … understanding of human biology and develop better methods for the detection, prevention and treatment of heritable and … of human biology and developing new methods for treating disease. … NHGRI's research focuses on the understanding of …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … a network of researchers to develop and apply methods for mapping candidate functional elements in the genome, and … by ENCODE are organized by two groups: a data coordinating center, which houses the data and provides access to the …
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 … 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 …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a … model organisms core, a biorepository, and a coordinating center. There were more than 100 people sitting around the … might be: (1) The Metabolic and Molecular Bases of Inherited Disease (a four volume textbook that is on line). …