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News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
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
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
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
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… causes of multiple rare and debilitating autoinflammatory diseases and identifying and treating previously undiagnosed illnesses, efforts that have alleviated the … program. … Dan Kastner, autoinflammatory diseases, undiagnosed diseases … Daniel Kastner was named Federal …
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.
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… 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. …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… our common goals of understanding and treating common diseases. … Launched in 2012, the NHGRI History of … genomic, social, and cultural determinants of many human diseases. … Genomics Research Prolonged antibiotic treatment … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.