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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… community will celebrate a yearly highlight - National DNA Day. On this day, students, teachers, and the public are engaged and … (or SNP) associations related to human health and disease. It is maintained through a partnership between NHGRI …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … is being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Genome …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… joins the rest of the country in celebrating National DNA Day, which commemorates two historical milestones: the … The first project (“Genetic testing to Understand Renal Disease Disparities U.S.” or GUARDD-US) will study if early … a program that has aimed to uncover the genomic basis of rare diseases and Mendelian conditions. CMG researchers …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson's disease. A small …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … colectomy for uncontrolled bleeding, this is increasingly rare in Crohn's, especially with new immune therapies. … … Disease Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
News Release
On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… genomics through sculpture. … On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a … “The Ladder,” celebrating DNA and children. National DNA Day is a unique day when students, teachers and the public can learn more …