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Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the … 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 …
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 …
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 are now available from researchers at the National …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ 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 …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … and bloodwork. …  … Today, gene therapy for sickle cell disease is considered experimental and only available to you … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
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 … from 1 in 3,000 to 1 in 6,000 children. Because the disease results in multiple defects throughout the body, …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to disease treatment. In September, …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … With Multi-omics Data to Provide Insights Into Prodromal Disease and Prevention Nathan Price, Onegevity and Institute …