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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 … variants specific to certain ethnicities and populations, rare disease genes and raw data error corrections. Many of …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … but to fundamental new insights into blood vessel disease. In their study, which appears in the Feb. 19, 2014, … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing … related approaches in genome sequencing studies of both rare and common diseases. The following grants have been …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … you may: Stop taking hydroxyurea or any other sickle cell disease medication for 2–3 months. Receive blood transfusions …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … animation depicting specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …
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 … Lysosomal Storage Disorder: A Natural History of Gaucher disease Eligibility Criteria: Anyone who has been diagnosed …
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.
… People with sickle cell disease (SCD) can experience excruciating pain all over their … bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in … has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, …
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 Parkinson's … Ellen Sidransky never thought she would study Parkinson's disease because it is not a disease a pediatrician … recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …