Search Results
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, …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… of genetic tests. Genetic tests can help to: Diagnose disease Identify gene changes that are responsible for an already diagnosed disease Determine the severity of a disease Guide doctors in … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… definitively associated with the most common form of the disease. The panel’s results were published in the journal …  Rare Disease Day is a worldwide observance that aims to raise … with rare diseases. Events related to this year’s Rare Disease Day , which are being sponsored by the National …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus … Genomics of Autoimmune Rheumatic Disease Section Staff … in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); systemic lupus …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … from 1 in 3,000 to 1 in 6,000 children. Because the disease results in multiple defects throughout the body, …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … With Multi-omics Data to Provide Insights Into Prodromal Disease and Prevention Nathan Price, Onegevity and Institute …
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 most often among people of African ancestry. … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Genomic Medicine XVI: Host Genomics and Infectious Disease … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …