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  2. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    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.

  3. List of gene therapies - Wikipedia

    en.wikipedia.org/wiki/List_of_gene_therapies

    Cambiogenplasmid (Neovasculgen): treatment for vascular endothelial growth factor peripheral artery disease; Ciltacabtagene autoleucel (Carvykti): treatment for multiple myeloma [6] Delandistrogene moxeparvovec (Elevidys): treatment for Duchenne muscular dystrophy [7] [8] Elivaldogene autotemcel (Skysona): treatment for cerebral ...

  4. List of antineoplastic agents - Wikipedia

    en.wikipedia.org/wiki/List_of_antineoplastic_agents

    EGFR-mutation positive non-small cell lung cancer. Skin reactions, diarrhoea, dehydration, haemorrhage, interstitial lung disease (uncommon), pancreatitis (uncommon), hepatitis (uncommon), allergy (uncommon), hepatic failure (rare), toxic epidermal necrolysis (rare) and Stevens–Johnson syndrome (rare). Imatinib: PO: Bcr-Abl kinase inhibitor.

  5. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2). When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is missing or has been deleted.

  6. Deletion (genetics) - Wikipedia

    en.wikipedia.org/wiki/Deletion_(genetics)

    The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slippage, within the DNA polymerase active site. [ 3 ] [ 4 ] [ 5 ] Deletions can be caused by errors in chromosomal crossover during meiosis , which causes several serious genetic diseases .

  7. List of syndromes - Wikipedia

    en.wikipedia.org/wiki/List_of_syndromes

    Chromosomal deletion syndrome; Chromosome 5q deletion syndrome; Chronic fatigue syndrome; Chronic functional abdominal pain; Chronic infantile neurologic cutaneous and articular syndrome; Chronic Lyme disease; Chronic prostatitis/chronic pelvic pain syndrome; Churg–Strauss syndrome; Chédiak–Higashi syndrome; Claude's syndrome; Clinically ...

  8. Austin musician Casey McPherson opens Everlum Bio lab to ...

    www.aol.com/lifestyle/austin-musician-casey...

    The problem with rare diseases. A genetic mutation disease like HNRNPH2, estimated at about 150 cases globally, lacks enough patients to make finding a cure profitable for pharmaceutical companies ...

  9. Koolen–De Vries syndrome - Wikipedia

    en.wikipedia.org/wiki/Koolen–de_Vries_syndrome

    Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups. [1] [2] [3] [4]