Usher Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Xia Xi-Xi et al. — Stem cell research (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41763034/
- 2.
From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
Wijn Dirk H et al. — Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41729786/
- 3.
Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.
Shi Tao et al. — The Journal of pathology (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41852313/
- 4.
Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant
Koizumi Hiromi et al. — Genes (11 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41898848/
- 5.
Retinal vasoproliferative tumors in pediatric retinal dystrophies.
Khan Arif O et al. — Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (9 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41812909/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Usher Syndrome
Usher Syndrome is the leading genetic cause of combined deafness and blindness, caused by mutations in any of several genes involved in the function of hair cells in the inner ear and photoreceptors in the retina. It affects approximately 1 in 6,000 people worldwide. Gene therapy research is advancing, with several clinical trials under way.
Most Recent Research
Mutation in USH2A gene cause autosomal recessive retinitis pigmentosa (RP) and Usher syndrome type II (USH2), constituting over 50% of USH2 and approximately 7% of RP. Here, we report the establishment of a human induced pluripotent stem cell (iPSC) line, BTHBIOi002-A, derived from the peripheral blood mononuclear cells (PBMCs) of a USH2 patient with compound heterozygous mutation in USH2A (c.[2512C>T]; [2802 T>G]), using the non-integrating episomal plasmids delivered by electroporation with OCT4, SOX2, NANOG, LIN28, c-Myc, and KLF4. The established iPSC line was validated for the karyotype stability, pluripotency markers, and the ability to differentiate into all three germ layers.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.