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- Genome Technology Program1
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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 …
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 … carry oxygen throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients 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 … Kiana Amini, a postbaccalaureate research fellow in Bonham’s group who co-led the project. “These resources reflect our …
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 …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … opportunities, and challenges for applying a patient’s genomic information (genome sequence, transcriptomic, … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, NHGRI and NIAID will sponsor the …
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 … Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have … Institute for Pediatric Surgical Innovation at Children's National Health System in Washington, D.C., developed the …
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.
… human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 linear feet. As … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 p.m. Purpose … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … (Progression/Prevention) Tes Mersha, Cincinnati Children’s Hospital Guided Discussion - Application of Multi-omics to …
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 of African ancestry. … …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… 2020' calendar . All the best, … A summary of NHGRI's first strategic planning Town Hall, held via videocast in … CA on July 17, 2018. … The Genome: Unlocking Life's Code  exhibition is currently touring North America. … to direct the program today. With the goal of improving disease management for individual patients and advancing …