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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.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … The exact cause for many rare diseases remains unknown. Still, for a significant portion, …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … studies have the potential to shed light on more common diseases in a perspective published February 22, 2017, in the … clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of rare …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to … Thalassemia is actually a group of inherited diseases of the blood that affect a person's ability to … Thalassemia is a group of inherited diseases of the blood that affect a person's …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … life, they learned through genetic testing that Sonia had inherited the same mutation that causes familial fatal …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… Genotype, Inherited, Phenotype, Proband, Family History, Genetic …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… location on a chromosome. Markers can help link an inherited disease with the responsible genes. … location on a chromosome. Markers can help link an inherited disease with the responsible genes. …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's disease is an inherited disease characterized by the progressive loss of … Huntington’s disease is a rare inherited disorder associated with the progressive loss of … and psychiatric symptoms. Huntington’s disease is inherited as an autosomal dominant trait, meaning that a …
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 … Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) at the National Center …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… came from a small town in Southern Italy in which PD was inherited from parent to child (dominant inheritance). We found the gene that caused their inherited Parkinson's Disease and it coded for a protein … to identify genetic variations that contribute to common diseases including Parkinson's disease. …