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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 … ). Single genes are also responsible for some rare, inherited types of cancer. Examples of these are the BRCA1 …
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 … resulting in anemia. … Thalassemia is actually a group of inherited diseases of the blood that affect a person's …
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 …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… a trait or disease though several generations. … Genotype, Inherited, Phenotype, Proband, Family History, Genetic …
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. … Marker, DNA … location on a chromosome. Markers can help link an inherited disease with the responsible genes. … Educational …
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. … Did you know that there are truly rare people … life, they learned through genetic testing that Sonia had inherited the same mutation that causes familial fatal … Relevant and Medically Actionable Information for Inherited Conditions: E-Book American Society of Human …
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. … A …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of … Genes, Autosomal Dominant … 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 …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now the National Center for Advancing Translational Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … …