DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for nonsyndromic genetic hearing loss — screening already-approved drugs against its 41-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleNonsyndromic genetic hearing loss maps to a 41-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 nonsyndromic genetic hearing loss 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
estrogen related receptor beta (ESRRB) — ESRRB 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 2ohdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6LIT · 2.0 Å · ligand 4,4'-PROPANE-2,2-DIYLDIPHENOL (2OH). Experimental structure, not a prediction.
What the evidence adds up to
Over 119 nonsyndromic genes have been associated with hearing loss, and hundreds of syndromic causes also include hearing loss as part of their clinical presentation. Identifying these genes and linking them to clinical characteristics, known as genotype-phenotype correlation, yields a more accurate diagnosis and prognosis. A genetic diagnosis can help clinicians avoid unnecessary and expensive clinical examinations, provide prognostic information, and assist in constructing medical therapy for patients. Audiologists are in a unique position to facilitate investigation into the aetiology of a patient's hearing loss, as a genetic diagnosis can provide information on recurrence risks and other potential health implications.
The development of gene therapy for hereditary hearing loss continues to grow, with some reports showing promising results. One specific strategy uses the example of otoferlin gene (OTOF)-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the OTOF gene, where delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. However, the complexity of the auditory apparatus presents challenges, and gene therapy is described as emerging and may be a viable management option in the future, not a current treatment.
No clinical trial results, survival data, response rates, or sample sizes from any interventional study are reported in these abstracts. The papers are reviews, guidelines, and tutorials that describe the current state of genetic knowledge and the theoretical pipeline from mutation identification to gene-based therapy. What is still missing is any completed clinical trial demonstrating efficacy in humans, the funding and trial design needed to move from preclinical promise to patient treatment, and the patient stratification required to match specific gene therapies to the many different genetic causes of hearing loss.
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 Pediatrics and Adolescent Medicine · 1974 · 28 citations
Familial Occurrence of Drug-Induced Hearing Loss
AbstractA sensorineural hearing loss was found in two members of a single family. Both mother and son had previously received streptomycin therapy. Although other causes of hearing loss in the son could not be eliminated, evidence is presented that supports streptomycin toxicity as the cause. To our knowledge, this represents the eighth such family in which a hearing loss secondary to streptomycin therapy has been described. It is believed that in these cases there is an increased sensitivity to this drug.
American Journal of Audiology · 2015 · 8 citations
Guidelines for Audiologists on the Benefits and Limitations of Genetic Testing
AbstractPURPOSE: This tutorial provides information to aid audiologists in determining when a referral for a genetics evaluation is appropriate for a patient with hearing loss. Direction is given on discussing the benefits and limitations of genetic testing with parents of children with hearing loss. METHOD: Genetic patterns of inheritance are reviewed, particularly in reference to syndromic and nonsyndromic forms of hearing loss. A review of pertinent literature was performed. CONCLUSION: Audiologists are in a unique position to facilitate investigation into the etiology of a patient's hearing loss. This is of high importance in genetic etiologies because the diagnosis can provide information on recurrence risks and other potential health implications. Suggestions are made to help audiologists recognize when a genetics referral is warranted, counsel patients and their parents about the benefits and limitations of genetic testing, and interpret genetic test results.
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.
Journal of the American Academy of Audiology · 2021 · 4 citations
Genetic Medicine for Hearing Loss: <i>OTOF</i> as Exemplar
AbstractAbstract Millions of people worldwide have disabling hearing loss because one of their genes generates an incorrect version of some specific protein the ear requires for hearing. In many of these cases, delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. Purpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss. We will use the example of otoferlin gene ( OTOF )-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the OTOF gene.
Current Opinion in Otolaryngology & Head & Neck Surgery · 1995 · 2 citations
Modern clinical methods in genetic hearing loss
AbstractClinical methods in cases of genetic hearing loss have been influenced recently by both methodologic advances and specific findings made in the many research laboratories devoted to human genetic investigation. For the clinician, reports from these laboratories seem to suggest significant breakthroughs accompanied by allusions to clinical applicability. This review presents a rationale for the analysis of the many reports related to genetic hearing loss and their attending clinical impact. This rationale is based on a simplified view of the laboratory effort as a pipeline. A disease (mutation) passes through this pipeline on its way from family identification, through linkage analysis (chromosome localization), to gene sequencing and disease mechanism identification, and finally to gene-based therapy. Each stage of the investigation process has its own impact on clinical methods, and each mutation is in a particular spot in the pipeline at present. The pipeline itself is presented in this paper, along with the nature of the clinical impact of each level of laboratory findings.
Journal of High School Science · 2023 · 0 citations · open access
Diagnosis and treatment of genetic hearing loss
AbstractThis paper discusses the potential influence of genetic research in the diagnosis and treatment of congenital hearing loss. It provides an overview of the different views in society surrounding genetic testing, especially the opinions of the hearing loss community and their families. By introducing the variety of genetic indicators of hearing loss that have been discovered, this paper highlights the technological advancements in hearing loss genetics. Furthermore, it introduces the importance of timely diagnosis and treatment to affected individuals, supporting the significance of the impact of genetic testing. Lastly, this paper presents future possibilities that genetic research can bring to hearing loss treatment, such as gene therapy. Overall, the purpose of this research is to explore the value of genetic research in this field and provide the readers with knowledge of the genetic basis in hearing loss.
Biomedical Journal of Indonesia · 2022 · 0 citations · open access
Genetics Of Hearing Loss: Focusing On Gene Therapy
AbstractGenetic is one of the most common causes of hearing loss with more than a hundred genes related to hearing loss have been identified. A genetic diagnosis can assist clinicians to keep away from unimportant and expensive clinical examinations, put up prognostic information, and assist in constructing medical therapy for patients. The development of gene therapy to improve hereditary hearing loss continues to grow these days, showing promising results. This literature review aims to review the genetic aspects of hearing loss, focusing on the gene therapy.
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.
