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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

Rare Diseases FAQ

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

Rare disease research may provide insights into common diseases

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

Genetic and Rare Diseases Information Center

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

Mouse model for rare genetic disease advances understanding of Parkinson's

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

About Dercum Disease

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

About Wilson Disease

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

NIH genome sequencing program targets the genomic bases of common, rare disease

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

Centers for Common Disease Genomics

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

Reddit AMA: The Undiagnosed Diseases Network

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 …