Identification of a novel mutation in the PROM1 gene associated with autosomal dominant Stargardt disease

Nov 23, 2024 | Government, News, Science

Asian J Surg. 2024 Nov 22:S1015-9584(24)02598-3. doi: 10.1016/j.asjsur.2024.10.264. Online ahead of print.NO ABSTRACTPMID:39580292 | DOI:10.1016/j.asjsur.2024.10.264

Type 2 Usher Syndrome – A Cause for Sensorineural Hearing Loss

Nov 19, 2024 | Government, News, Science

Indian J Otolaryngol Head Neck Surg. 2024 Dec;76(6):5228-5233. doi: 10.1007/s12070-024-04953-9. Epub 2024 Aug 7.ABSTRACTUsher syndrome is a genetic condition involving Sensorineural hearing loss and Retinitis pigmentosa (RP). Although considered a rare disease, it is...

Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care

Nov 19, 2024 | Government, News, Science

Laryngoscope. 2024 Nov 19. doi: 10.1002/lary.31911. Online ahead of print.ABSTRACTINTRODUCTION: Usher syndrome (USH) is a rare, autosomal-recessive genetic disorder and a leading cause of early onset deaf-blindness. A clinical diagnosis is made by the presence of...

Exploring the Molecular Interaction Between NR2E3 and NR1D1 in Retinitis Pigmentosa: A Docking and Molecular Dynamics Study

Nov 18, 2024 | Government, News, Science

J Clin Lab Anal. 2024 Nov 18:e25125. doi: 10.1002/jcla.25125. Online ahead of print.ABSTRACTBACKGROUND AND AIMS: Retinitis pigmentosa (RP) is a hereditary retinal disorder that gradually leads to vision loss due to photoreceptor cell degeneration. This study aims to...

Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review

Nov 16, 2024 | Government, News, Science

J Community Genet. 2024 Nov 16. doi: 10.1007/s12687-024-00749-0. Online ahead of print.ABSTRACTDespite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient’s usage. This scoping...