Search Results
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
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 …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… he collaborates on several projects involving genetic risk communication. His main appointment is as associate … Dr. Klein's research interests include self-judgment, risk perception and risk communication. He has been interested in how risk …