DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for retinitis pigmentosa-deafness syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleRetinitis pigmentosa-deafness syndrome maps to a 3-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for retinitis pigmentosa-deafness syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
myosin VIIA (MYO7A) — MYO7A is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5MV9 · 2.6 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Seventeen patients with retinitis pigmentosa were investigated audiologically in a 1987 study; nine had significant hearing loss, six of those were examples of Usher syndrome with a cochlear pattern of hearing loss. The other three were examples of Senior syndrome, Kearns-Sayre syndrome and Lawrence-Moon-Biedl syndrome respectively, and two of those patients had absent stapedius reflexes. The authors suggested that different retinitis pigmentosa-deafness syndromes may involve lesions in different parts of the auditory system.
Usher syndrome is the most common cause of deaf-blindness worldwide, with a prevalence between 4 and 17 per 100,000. It is an autosomal recessive genetic disorder classified into three main types. Type I involves profound congenital deafness and early-onset retinitis pigmentosa. Type II involves moderate to severe hearing loss with later onset of visual problems. Type III is the rarest, with progressive hearing and vision loss that begins later in life. Ten causative genes have been identified; MYO7A accounts for more than 50% of type 1 and USH2A contributes to approximately 80% of type 2. Variants in these genes can also cause non-syndromic retinitis pigmentosa and deafness.
Hearing loss in Usher syndrome is managed with hearing aids and cochlear implants, which have made a significant improvement in quality of life. There is currently no available approved treatment for the retinitis pigmentosa component. Various therapeutic strategies are in development or in clinical trials, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs. A 2024 review noted that ongoing research into genetic mechanisms and potential therapies offers hope for future successful treatments, but no such treatment has yet been approved.
What is still missing is an approved therapy for the retinal degeneration in any form of Usher syndrome. The clinical trials that are underway for gene replacement, gene editing, antisense oligonucleotides and small molecule drugs have not yet produced a licensed treatment. Patient stratification by genetic subtype will be necessary for any future trial design, and the funding required to bring these experimental approaches through late-stage trials remains a limiting factor.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Therapeutic Advances in Ophthalmology · 2020 · 119 citations · open access
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
AbstractUsher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have been described for several of the Usher genes. Hearing loss is managed with hearing aids and cochlear implants, which has made a significant improvement in quality of life for patients. While there is currently no available approved treatment for the RP, various therapeutic strategies are in development or in clinical trials for Usher syndrome, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs.
Journal of the Royal Society of Medicine · 1987 · 7 citations · open access
Retinitis pigmentosa and deafness
AbstractSeventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively. Two of these patients had absent stapedius reflexes. It is suggested that patients with different RP-deafness syndromes may have lesions in different parts of the auditory system.
Quality in Sport · 2024 · 0 citations · open access
Impact of Usher syndrome on athletic performance - navigating silence and darkness
AbstractUsher syndrome (USH) is an autosomal recessive genetic disorder and a leading cause of simultaneous hearing and vision loss. The aim of this paper is to provide a detailed review of Usher syndrome, including its pathogenesis, clinical symptoms, diagnostic methods, the role of sport in the lives of athletes and sportspeople with Usher syndrome and available therapeutic options. Understanding this disease is crucial for early detection and the implementation of appropriate therapeutic interventions. Currently, Usher syndrome is classified into three main types (I, II, and III), differentiated by the degree and progression of hearing and vision loss. Type I is characterized by profound congenital deafness and early-onset retinitis pigmentosa. Type II presents with moderate to severe hearing loss and later onset of visual problems. Type III is the rarest, with progressive hearing and vision loss that occurs later in life. The genetic basis of Usher syndrome is linked to mutations in various genes that affect proteins essential for the proper functioning of the inner ear and retina. Early diagnosis and an interdisciplinary approach to treatment are key to improving the quality of life for those affected by this disease. Ongoing research into the genetic mechanisms and potential therapies offers hope for future successful treatments.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
