Search Results
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 criteria and categories, see the list of categories and their …
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 therapies in children with mitochondrial disease. … with mitochondrial disease receive immune therapies and some do not. The purpose of this study is to understand …
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.
… 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 … "You do what you have to do," said Janice Hanson, Tonya and Cody's mother. "Each child felt that they were loved by …
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 … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… 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 … Juvianee I. Estrada-Veras, M.D., clinical investigator and staff clinician in NHGRI's Medical Biochemical Genetics …
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 … of the disease: Type 1 causes enlargement of the liver and spleen, a low number of red blood cells, easy bruising …
Fact Sheet
Sickle cell disease resources for patients
… 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 … About Sickle Cell Disease   Centers for Disease Control and Prevention Sickle Cell Disease   American Society of …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was …
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. … that in the 15 years since we finished reading  the human genome sequence for the first time, we have developed … But in 2012, a new technique called CRISPR  was developed and has revolutionized genome editing. The scientists who …