Search Results
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 … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to …
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 … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated …
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 Center (GARD)  was created in 2002 by … Genetic and Rare Diseases Information Center … The Genetic and Rare Diseases Information Center helps people find useful …
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 … 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 … Wilson disease is a rare genetic condition that affects about one in 30,000 … Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …
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. … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … 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 … 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
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … $2.5 million to study what specific genes do in rare, difficult-to-diagnose diseases. In this third round of …