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News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… The network builds on a program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and … 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … 25 million to 30 million Americans. … The exact cause for many rare diseases remains unknown. Still, for a … ). Single genes are also responsible for some rare, inherited types of cancer. Examples of these are the BRCA1 …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's … types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the … death. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. The …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … Sidransky's lab, analyzed more than 200 individual mice for as long as two years. Also contributing to the study were …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… a family tree that diagrams the inheritance of a trait or disease though several generations. … Genotype, Inherited, Phenotype, Proband, Family History, Genetic … a family tree that diagrams the inheritance of a trait or disease though several generations. … Educational Resources …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did you know that there … life, they learned through genetic testing that Sonia had inherited the same mutation that causes familial fatal … Real Life Stories Rare Action Network State Action Center NIH - Genetic and Rare Diseases Information Center …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… of computational genomics in institute’s Intramural Research Program. … The National Human Genome Research … Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s …
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… Professor with tenure in the Department of Clinical Research and Leadership at the George Washington University … (GW) School of Medicine and Health Sciences (SMHS). For over a decade, she has also served as a Special Volunteer at the Center for Research on Genomics and Global Health at the …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… location on a chromosome. Markers can help link an inherited disease with the responsible genes. … Marker, DNA Sequence, … location on a chromosome. Markers can help link an inherited disease with the responsible genes. … Educational …
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).
… Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United … Dr. Rotimi was the director of the National Human Genome Center at Howard University. Dr. Rotimi came to the NIH in … into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug …