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News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
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.
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.
… genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … to improve upon the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's … on average, 6.6 faulty genes in people with undiagnosed diseases compared to 5.8 faulty genes in their healthy …
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.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
… particular disease. … Gene, Gene Environment Interaction, Inherited, Risk … Susceptibility, as related to genetics, …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future … Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… create a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue bank that … create a resource that researchers can use to study how inherited changes in genes lead to common diseases. … The …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of photos of physical traits of people with many different inherited diseases around the world, including Asia, the Indian … often does not represent the characteristics of these diseases in patients from other parts of the world. …