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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… genes. But doctors have struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more than 80 million variants … in the context of particular diseases. ClinGen projects center on developing processes and procedures to answer three …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for Public …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized …
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 …
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 …
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 …
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 …
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 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 …
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 …