DeCure for Autosomal dominant nonsyndromic hearing loss 10
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant nonsyndromic hearing loss 10 — 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 10 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 10 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.
What the evidence adds up to
The 2003 review notes that 80 loci for nonsyndromic hearing loss had been mapped and 30 genes identified, but it offers no treatment data. The 1993 paper describes two kindreds with autosomal dominant progressive sensorineural hearing loss beginning in the early 20s, with high frequencies affected first; no intervention is tested. The 2001 study maps a novel form of late-onset, progressive, sensorineural hearing loss in a Michigan family to chromosome 17q25 (locus DFNA20), but the gene was not yet identified and no treatment is reported.
A 2021 Iranian family study identifies a novel stop loss mutation in P2RX2 (c.1048T>G, p.Term350Glu) in two patients with autosomal dominant nonsyndromic hearing loss. This is the first Iranian case of ADNSHL caused by P2RX2 mutation. The paper provides no therapeutic intervention or outcome data. A 2020 Italian study of three children from two non-consanguineous families with DFNB7/11 (recessive TMC1 mutations) reports that after cochlear implantation, speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. The authors state that their results do not support the variable auditory outcome reported in the literature.
No drug is mentioned in any of these abstracts. There is no evidence of any pharmacological treatment for autosomal dominant nonsyndromic hearing loss 10. What is missing is any clinical trial of a drug, any repurposing candidate, any animal model testing a compound, and any patient stratification beyond genetic diagnosis. Money for drug screening or preclinical work has not been reported.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ear and Hearing · 2003 · 66 citations
Nonsyndromic Hearing Loss
AbstractIn Brief The past decade has seen extremely rapid progress in the field of hereditary hearing loss. To date, 80 loci for nonsyndromic hearing loss have been mapped to the human genome. Furthermore, 30 genes have been identified. These genes belong to a wide variety of protein classes: from myosins and other cytoskeletal proteins, over channel and gap junction components, to transcription factors, extracellular matrix proteins and genes with an unknown function. The identification of these genes has enabled geneticists to offer DNA diagnostic tests for some types of nonsyndromic hearing loss. Moreover, it holds the promise to significantly improve the molecular knowledge on the auditory and vestibular organs and on the pathological mechanisms leading to hearing loss. This opens perspectives for future therapeutic and/or preventive measures for hearing loss. This review attempts to give an overview of the current knowledge of the genes responsible for nonsyndromic hearing loss, their expression and functions in the cochlea. A broad review of genes responsible for nonsyndromic hearing loss, their expression and function in the cochlea. Also discusses the genetic tests currently offered for different types of nonsyndromic hearing loss.
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
Audiologic Aspects of the Search for DFNA20: A Gene Causing Late-Onset, Progressive, Sensorineural Hearing Loss
AbstractOBJECTIVE: The purpose of this research was to identify the gene responsible for a novel form of nonsyndromic, late-onset, bilateral, progressive, sensorineural hearing loss in a Michigan family of English descent. This report describes the audiologic aspects of the search. DESIGN: Fifty-eight members of the family served as subjects for the study. Family pedigree information was gathered from family interviews, family records, birth and death registration records and census data. Audiologic evaluation was used to describe the hearing loss (phenotype) and classify family members as affected or unaffected based on hearing status. These data then were used in a linkage analysis, a process in which the inheritance of a trait is compared with the inheritance of genetic markers and statistically significant associations are sought. RESULTS: The team mapped the hearing loss to the long arm of chromosome 17 at band 17q25. The pattern of inheritance is autosomal dominant. The search for the gene is continuing using a candidate gene approach. CONCLUSIONS: The hearing loss demonstrated by this mid-Michigan family is a novel form of nonsyndromic, genetic, late-onset, bilateral, progressive, sensorineural hearing loss. The locus of the gene, the 20th for autosomal dominant hearing loss, is at band 17q25 of chromosome 17.
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss
AbstractBackground: Hearing loss, a congenital genetic disorder in human, is difficult to diagnose. Whole exome sequencing is a powerful approach for ethiological disgnosis of such disorders. Methods: One Iranian family with two patients were attented in the study. Sequencing of known non-syndromic hearing loss genes was carried out to recognize the genetic causes of HL. Results: Molecular analyses identified a novel stop loss mutation, c.1048T>G (p.Term350Glu), whitin the P2RX2 gene, causing a termination-site modification.This event would lead to continued translation into the 3' UTR of the gene, which in turn may result in a longer protein product. The mutation was segregating with the disease phenotype and predicted to be pathogenic by bioinformatic tools. Conclusion: This study is the first Iranian case report of a diagnosis of autosomal dominant nonsyndromic hearing loss (ADNSHL) caused by P2RX2 mutation. The recognition of other causative mutations in P2RX2 gene more supports the probable function of this gene in causing ADNSHL.
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.
