Search Results

1 - 10 of 1094
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people born all the time? Around 350 million people on …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that … United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and … are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder characterized by enlargement of …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by multiple, painful … Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by multiple, painful … disease? … About Dercum Disease … Dercum disease is a rare condition that is characterized by multiple, painful …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store … organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 … Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… focus on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … will continue investigating the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple … phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … complex inherited diseases. Understand how best to design rare variant studies for common disease. Develop resources, …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social …