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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 .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Sangamo Therapeutics Inc (NASDAQ: SGMO) has announced updated preliminary results from the Phase 1/2 STAAR study of isaralgagene civaparvovec, or ST-920, a gene therapy candidate for Fabry disease.
[2] [3] The mRNA sequence is determined by the sequence of genomic DNA. [4] In this context, the standard genetic code is referred to as 'translation table 1' among other tables. [3] It can also be represented in a DNA codon table. The DNA codons in such tables occur on the sense DNA strand and are arranged in a 5 ′-to-3 ′ direction.
Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities.
Sangamo Therapeutics Inc (NASDAQ: SGMO) has announced updated preliminary results from the Phase 1/2 STAAR study evaluating isaralgagene civaparvovec (ST-920), a gene therapy candidate for Fabry ...
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
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