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Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in … at Massachusetts General Hospital. She was looking at diseases of the brain. "I'm doing an autopsy on a patient … recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real …
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 Neoteryx™ fingerstick at-home sampling.
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.
… Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN) has been working towards creating a … The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a … the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. …
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. … genomic, social, and cultural determinants of many human diseases. … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us … Alliance aims to accelerate our understanding of common diseases …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
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.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … and Dr. Stephen Groft (then Director of the NIH Office of Rare Diseases, now part of the National Center for Advancing … cardiology, and genetics. Dr. Gahl, an expert on rare genetic diseases, served as the founding Director of the …