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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
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 …
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 released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease … National Institutes of Health, particularly the National Heart, Lung, and Blood Institute.” “Most importantly, the …
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 …
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.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. … This study is open to …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … defects throughout the body, including cleft palate, heart defects, a characteristic facial appearance and …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people … anemic and experience significant damage to their heart, lungs, and kidneys. … Educational Resources …