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Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To … for specific publications by title, author, category and/or by date range.  For an explanation about the selection … Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic Medicine Working …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare …
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 Institute (NHGRI) and the National Center for Advancing Translational Sciences …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their children to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… collaboration with the UMDF, the NIH Metabolism, Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune … with mitochondrial disease receive immune therapies and some do not. The purpose of this study is to understand …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. … … we decided that while we assess the state of the science and any potential risks to research participants, NIH … By Eric D. Green, M.D., Ph.D., Director, National Human Genome Research Institute Carrie D. Wollinetz, Ph.D., …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency and precision. … Did you know that in the 15 years since we … be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available … Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … models to examine how differences in the DNA code - called variants - can cause a disease. Scientists at the center, led …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… medical devices in fields such as radiology, cardiology, and various other disciplines of medicine. Vast amounts of … of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will leverage … … NIA … ODSS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Institute on Aging …