DeCure for Autosomal dominant nonsyndromic hearing loss 11
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant nonsyndromic hearing loss 11 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal dominant nonsyndromic hearing loss 11 maps to a 1-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 autosomal dominant nonsyndromic hearing loss 11 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
In 1993 and 1996, two studies described a large North American family with autosomal dominant progressive sensorineural hearing loss beginning around age 20 and becoming profound by about age 45. The 1993 report covered 74 members across four generations, with 23 affected individuals, and noted that the hearing loss starts in the early 20s and affects high frequencies first. The 1996 study evaluated 49 family members and confirmed the same pattern of onset and progression. No drug or treatment was tested in either study.
A 2020 review of genetics in paediatric hearing loss stated that 119 nonsyndromic genes have been associated with hearing loss to date, and that gene therapy is emerging as a possible future management option. The review did not report any clinical trial results or patient outcomes.
Another 2020 study examined cochlear implantation in three children from two non-consanguineous families with DFNB7/11, a recessive form of hearing loss caused by pathogenic variants in the TMC1 gene. All three children had prelingual, severe-to-profound hearing loss. After cochlear implantation, their speech perception, nonverbal cognition, and speech performance were comparable to those of children with DFNB1 deafness. The authors noted that this excellent outcome contrasts with the variable results reported elsewhere in the literature, which they attributed to social, environmental, and genetic factors. No drug treatment was involved.
What is still missing for autosomal dominant nonsyndromic hearing loss 11 specifically: no drug-repurposing trials have been conducted, no molecular target for a drug has been validated in patients, and no patient stratification beyond age of onset and audiogram pattern has been established. Funding for preclinical drug screening or for a trial of any repurposed compound is absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Otolaryngology - Head and Neck Surgery · 1993 · 51 citations
Autosomal Dominant Sensorineural Hearing Loss: Further Temporal Bone Findings
AbstractIn a previous publication, my colleagues and I<sup>1</sup>described the audiologic and temporal bone characteristics of some affected members in two kindreds with autosomal dominant progressive sensorineural hearing loss.<sup>1</sup>The pedigree and audiologic and temporal bone findings of kindred 1 are briefly summarized here, and additional temporal bone findings are described. <h3>PREVIOUS FINDINGS</h3> Kindred 1 consists of 74 members from four generations. The hearing status of 26 members is unknown. Of the 23 affected members, 12 are male and 11 are female. The pattern of trait inheritance is autosomal dominant, with almost complete penetrance. By history and analysis of available audiograms of affected and unaffected individuals, we determined that the hearing loss begins in the early 20s. None of the fourth-generation members have attained the age of 20 years and, presumably for this reason, have normal hearing. The hearing loss is progressive, high frequencies being affected first, followed
American Journal of Audiology · 1996 · 24 citations
Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family
AbstractForty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of the hearing loss, the size of the family, and the availability of two previously described temporal bones from family members, a fairly complete description of the nature and impact of this mutation will be presented.
Genetics of pediatric hearing loss: A functional perspective
AbstractOBJECTIVES: This article reviews the current role of genetics in pediatric hearing loss (HL). METHODS: A review of the current literature regarding the genetic basis of HL in children was performed. RESULTS: To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syndromic causes that have HL as part of the clinical phenotype. CONCLUSIONS: Identifying HL genes coupled with clinical characteristics ("genotype-phenotype") yields a more accurate diagnosis and prognosis. Although the complexity of the auditory apparatus presents challenges, gene therapy is emerging and may be a viable management option in the future.
Supplementary Material for: Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in <b><i>TMC1</i></b> Gene
Abstract<b><i>Introduction:</i></b> Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in <i>TMC1</i> gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described in the literature is variable. The objective of this work is to evaluate the auditory outcome after CI in pediatric patients with DFNB7/11, born to non-consanguineous parents. <b><i>Methods:</i></b> A retrospective analysis of genetic and audiological data of DFNB7/11 patients followed up in a single Italian otolaryngology clinic was performed. Cases with biallelic pathogenic variants in <i>TMC1</i> were selected from the cohort of children with non-syndromic hearing loss who had undergone CI and had been molecularly characterized by multigene panel testing. All patients underwent extensive audiological assessment, and the auditory outcome after CI was evaluated. <b><i>Results:</i></b> DFNB7/11 was diagnosed in a total of 3 patients from 2 non-consanguineous families; a novel disease-causing variant in <i>TMC1</i> was detected [c.962G>A p.(Trp321*)]. All the affected children showed the typical DFNB7/11 phenotype characterized by prelingual, severe-to-profound HL. The patients showed an excellent functional outcome after CI; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. <b><i>Discussion/Conclusion:</i></b> Our results do not support the variable auditory outcome reported in the literature, which may be affected by several social and environmental factors and by the genetic background.
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.
