DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hearing loss, autosomal recessive 116 — 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 moduleHearing loss, autosomal recessive 116 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 hearing loss, autosomal recessive 116 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
claudin 9 (CLDN9) — CLDN9 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 6OV2 · 3.2 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2020 review states that 119 nonsyndromic genes have been associated with hearing loss in children, and that gene therapy is emerging but not yet a viable management option. A 2019 case report describes a proband with postnatal deafness who carried a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of the inner ear and may cause premature termination of translation of the TECTA protein. The report also found two heterozygous mutations in the USH2A gene, one likely pathogenic and one of unknown significance. All three mutations were inherited from the parents, and the hearing loss conformed to an autosomal recessive pattern.
A 1978 study of 111 children with bilateral hearing loss of unknown aetiology, followed for 1 to 6 years, found that average hearing level deteriorated slowly, with no difference between hereditary and unknown groups. Average deterioration was about 10 dB over 5–6 years. In 39 of 111 cases (35.1%), hearing level deteriorated more than 15 dB. The dominant shape of audiograms in progressive cases was gradually sloping.
A 2020 study of three patients from two non-consanguineous families with DFNB7/11, caused by biallelic pathogenic variants in the TMC1 gene, reported that all children had prelingual, severe-to-profound hearing loss. 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, which they attribute to social, environmental, and genetic factors.
A 2025 expert consensus on surgical treatment for hereditary hearing loss notes that the condition is suitable for precision medicine but that surgical treatment has particularities due to genetic heterogeneity and phenotypic diversity. The consensus is based on molecular epidemiological survey results, various surgical methods, and postoperative follow-up data. A 2000 paper notes that 11 genes for autosomal dominant and 6 genes for autosomal recessive hearing loss had been isolated at that time, but that an estimated 50 to 80 hearing loss genes remained to be discovered. What is still missing is large-scale, long-term prospective data linking specific genotypes to surgical outcomes, and the development of gene therapies that have been tested in controlled human trials.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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.
[Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene].
AbstractOBJECTIVE: To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family. METHODS: Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband. CONCLUSION: The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.
PROGRESSION OF SENSORINEURAL HEARING LOSS IN CHILDREN
AbstractOne hundred and eleven children with bilateral hearing loss of unknown etiology have been followed up for a period of 1 to 6 years. Audiograms were studied from the view point of progression of hearing loss. Children were classified into 2 groups of 47 hereditary cases and 64 cases with unknown etiology.The conclusions obtained were as follows.1, Average hearing level deteriorated slowly during the observation period of 1-6 years. No difference was observed between both groups of the hereditary and unknown. Average deterioration was accounted for about 10 dB in 5-6 years.2. In 39 cases out of 111 cases (35, 1 % : hereditary group 29.8% and unknown group 39.1%), hearing level detetriorated more than 15 dB.3. The dominant shape of audiograms in cases with progressive hearing loss was gradually sloping, and in a few cases abrupt shape.
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.
[Expert consensus on surgical treatment for hereditary hearing loss].
AbstractHereditary hearing loss, with its well-defined molecular etiology, is a typical disease suitable for applying the concept of individualized precision medicine to clinical practice. Given its genetic heterogeneity and phenotypic diversity, there are particularities for the surgical treatment of hereditary hearing loss. Based on the results of the molecular epidemiological survey of large samples of deafness, various surgical methods and postoperative follow-up data, this expert consensus formulates a detailed guidance plan for the surgical treatment, efficacy evaluation and postoperative rehabilitation of hereditary hearing loss.
Zurich Open Repository and Archive (University of Zurich) · 2000 · 0 citations · open access
Erbliche Schwerhörigkeit: neue Möglichkeiten der Diagnostik
AbstractMutations in many different genes can result in hearing loss. Using different molecular genetic methods, the disease-causing gene mutations can often be identified or at least localised to defined regions of the genome. These new diagnostic possibilities result from the localisation and identification of a number of hearing-loss genes in the last five years. Diagnostic investigations should always be accompanied by a genetic counselling of the family. In addition, the isolation thus far of 11 genes mutated in autosomal dominant inherited hearing loss, as well as of 6 genes mutated in autosomal recessive inherited hearing loss, has contributed to a better understanding of the molecular pathology of hearing loss in general. However, we are only beginning to see the whole picture, as an estimated 50 to 80 hearing loss genes remain to be discovered.
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.
