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Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as height. How … to find the chromosomal regions that affect the disease risk or trait. In these regions, usually many variants are … which one or few of the variants functionally affect the risk of disease or other traits. Some variants are in the …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, … change their behaviors in response to learning their risk of getting a disease through their family health … history, to the best ways to understand your disease risk when you don't know your family health history.   Chris …
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.
… have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … person having a stroke. "Our goals were to break down the risk factors for stroke," Dr. Williams said. The researchers … amino acid homocysteine are associated with an increased risk of common diseases such as stroke, cardiovascular …
News Release
Three practical strategies for reducing the risk of re-identification, the process by which anonymized personal genomic data are matched with the owner.
… compares three practical strategies for reducing the risk of re-identification - the process by which anonymized … protections … Three practical strategies for reducing the risk of re-identification, the process by which anonymized … chromosomes … Three practical strategies for reducing the risk of re-identification, the process by which anonymized …
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.
… of genes that have large effects on an individual's risk for developing rare diseases. These same approaches … in the MSH2 gene result in a five-fold increased risk for colon cancer. But they hesitate when asked which … and those we are not sure about," he said. "Some are risk variants. They are not absolutely pathologic and their …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … period. Individuals born with WAGR syndrome are at higher risk for developing other problems during infancy, childhood, …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, … display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Educational …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… providers to identify patterns of inheritance and identify risk factors. … The NHGRI Family Health History Tool … family members, or future generations may be at increased risk of developing particular conditions. … Healthcare … family members, or future generations may be at increased risk of developing particular conditions. … Health …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… of Type 2 Diabetes in Africans Identifies African-specific Risk Locus … The largest genomic study on type 2 diabetes in …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… identified a treatment that significantly decreases the risk of stroke   in children with a rare genetic disease … identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called … identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called …