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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) and the NIH Clinical Center. … A … list for admission is 2 to 6 months. The Undiagnosed Diseases Program pursues two goals: To provide answers to …