Search Results
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … that elude diagnosis are considered undiagnosed and are of interest to this clinical research program. Thirty to …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Six new grants from the National Institutes of Health (NIH) will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… NIH researchers find that large language models rely on concise, textbook-like language to evaluate … National Institutes of Health (NIH) researchers discover that while artificial … is trained on massive amounts of text-based data. These models have the potential to be very helpful in medicine due …
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.
… Researchers 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 … The UDP is part of the Undiagnosed Diseases Network , which brings together …
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 … byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal Storage …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals. … lead to changes in physical traits, like eye color, and disease risk. Scientists use different technologies to do … leading to changes in physical traits, like eye color, and disease risk. Scientists use different technologies to do …
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 ( … ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey … to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will …
Talking Glossary
Un gameto es una célula reproductiva de un animal o planta.
… Un gameto es una célula reproductiva de un animal o planta. … Un gameto es una célula reproductiva de un animal o planta. En los animales, los gametos de las hembras … Un gameto es una célula reproductiva de un animal o planta. …
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 … oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, …
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 … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the …