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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug … successfully corrected the malfunctioning cells. … Gaucher disease is an inherited condition caused by alterations in …
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. … risk of common diseases such as stroke, cardiovascular disease and dementia. Homocysteine is a breakdown product of …
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 … provider or a clinical trial team. … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
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 variants that affect disease risk. Although GWAS may find hundreds of variants …
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). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …
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 …
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 … in the DNA code - called variants - can cause a disease. Scientists at the center, led by Hugo Bellen, … of Oregon in Eugene, will eventually study the potential disease-causing effects of approximately 200 gene variants …
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 … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …
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.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate … Research. "We aim to improve our understanding of the disease." Normal blood cells (left) and the blood cells in …
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 … the Ashkenazi Jewish population. Classification of Gaucher Disease There is a wide variation of disease presentation and …