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By Sriparna Roy (Reuters) -The U.S. Food and Drug Administration has approved Zevra Therapeutics' drug for a rare and fatal genetic disorder, making it the first treatment to get a nod for the ...
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan ...
Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1][2][3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4][5] although cases may be recognized dating back as early as 1908. [6][7][8] The symptoms of the disease vary greatly from ...
The one-time therapy, branded as Lenmeldy in the U.S., is approved for children in certain stages of disease progression, the Food and Drug Administration (FDA) said. US approves first gene ...
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
Ellis–Van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability.
Tuberous sclerosis. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
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