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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 …
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 …
Outreach
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 …
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 … that is part of a global effort to raise awareness of rare diseases . several nhgri staff members - anastasia l. wise, …
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.
… 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 …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare , genetic disease in africans, asians and latin … of physical traits of people with many different inherited diseases around the world, including asia, the indian …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke   in children with a rare genetic disease called dada2 (deficiency of adenosine … with dada2 and other autoimmune and autoinflammatory diseases . researchers published their findings in the april …
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, …
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
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 …