Search Results
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 …
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
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 …
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 …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … … Genetic Disorders … A list of genetic, orphan and rare diseases under investigation by researchers at or …