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Mutations in the gene encoding otoferlin are a cause of a neurosensory nonsyndromic recessive deafness, DFNB9.The diagnosis is identified by molecular genetic testing.. In October 2023 two small clinical trials for a gene therapy restoring the defective Otoferlin via an adeno-associated virus (AAVs) have been announced.
Gene therapy is controversial due to ethical and social considerations. [ 24 ] [ 25 ] [ 26 ] For example, some members of the deaf community embrace hearing loss as a positive aspect of their identity and culture that they do not wish to change, whereas other members seek therapeutic interventions.
Deafness in animals can occur as either unilateral (one ear affected) or bilateral (both ears affected). This occurrence of either type of deafness seems to be relatively the same in both mixed-breed animals and pure-breed animals. [5] Research has found a significant association between deafness in dogs and the pigment genes piebald and merle ...
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[3] [14] Additionally, hearing loss is not as common as in type 2. [3] Rarely, cleft lip has been reported in this form of Waardenburg syndrome. [15] Type 4 can also be caused by a mutation in SOX10 (the same gene as in type 2E), in which it is known as type 4C; hearing loss is very common and severe in this type. [16]
Gene therapy has allowed several children born with inherited deafness to hear. On Tuesday, the Children's Hospital of Philadelphia announced similar improvements in an 11-year-old boy treated there.
Cancer gene therapy was introduced in 1992/93 (Trojan et al. 1993). [167] The treatment of glioblastoma multiforme, the malignant brain tumor whose outcome is always fatal, was done using a vector expressing antisense IGF-I RNA (clinical trial approved by NIH protocol no.1602 24 November 1993, [168] and by the FDA in 1994). This therapy also ...
Gene therapy that cures congenital deafness For the first decade of his life, Aissam Dam, an 11-year-old boy from Morocco couldn’t hear. A genetic condition had rendered him deaf from birth.