Search Results

61 - 70 of 1086
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
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Branch … Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN) has been working towards creating a … the framework for how this can be successful. See: The Undiagnosed Diseases Network: Accelerating Discovery about …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… has given dozens of lectures about helping patients with undiagnosed diseases, work he began with the Undiagnosed Diseases Program in 2008. … But when he gave the …
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 …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
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.
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. …