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Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … in the Social and Behavioral Research Branch  of NIH's National Human Genome Research Institute (NHGRI). "This …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. … pathway that were associated with differences in a person's ability to convert methionine to homocysteine. They found …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … NIH institutes and centers. Our team studies a patient's clinical and laboratory results for diagnostic clues while … new insights about genetic and biochemical mechanisms of disease, normal cell biology, biochemistry, and physiology. …
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 … . National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 institutes and centers …
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 … takes about three hours per exome to analyze an individual's protein-coding genes. …
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 … senior author of the paper and a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … individuals. In doing so, the pathogen suppresses the body's inflammatory response to the infection. This way, the body …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … watch the resulting effects, if any, on the organism. "It's often very difficult to know which genes and variants … led by Thomas Metz, Ph.D., at the Department of Energy's Pacific Northwest National Laboratory in Richland, …
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 … Gaucher Disease and Parkinson Disease In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence … Lysosomal Storage Disorder: A Natural History of Gaucher disease Eligibility Criteria: Anyone who has been diagnosed …
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 ( … learn about: Phases of a clinical trial. Study outcome(s). How researchers will know if the treatment worked. If you … learn about: Phases of the treatment. Treatment outcome(s). How healthcare providers will know if the treatment …