Search Results

71 - 80 of 1187
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … neurological manifestations seen in patients with Gaucher disease. The gene coding for the enzyme glucocerebrosidase is … mutations in the GBA1 gene give individuals an increased risk for the development of Parkinson disease. Further …
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 … … Biography … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey A. Criswell, M.D., M.P.H., … Disease Genomics Branch. … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); …
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 … related to the features of the tumor, and the stage of the disease. Treatment may include surgery to remove the kidney, … increased risk of cancer in babies. … WAGR Syndrome, Rare Disease, Genetic Disease, Chromosome 11, 11p13 Deletion … …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease are now available from researchers at the National …
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  … for Emerging Centers in Fiscal Year 2020. …   Rare Disease Day is a worldwide observance that aims to raise … Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual …
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 …
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. … This study is open to …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … to a protective environment in the hospital to reduce your risk of infection. Medical staff will monitor you closely … and bloodwork. …   … Today, gene therapy for sickle cell disease is considered experimental and only available to you …