DeCure for Autosomal recessive nonsyndromic hearing loss 1A
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive nonsyndromic hearing loss 1A — 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 moduleAutosomal recessive nonsyndromic hearing loss 1A 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 autosomal recessive nonsyndromic hearing loss 1a 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
crystallin lambda 1 (CRYL1) — CRYL1 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 naddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3F3S · 2.0 Å · ligand NICOTINAMIDE-ADENINE-DINUCLEOTIDE (NAD). Experimental structure, not a prediction.
What the evidence adds up to
A 2020 review notes that 119 nonsyndromic genes have been linked to hearing loss in children, and that gene therapy is emerging but not yet a viable management option. A 2004 study of 144 patients with nonsyndromic hearing loss examined sex distribution, type, degree, symmetry, laterality, progression, and inheritance pattern, but did not test any drug or intervention. A 2000 paper states that by that time 6 genes had been identified for autosomal recessive hearing loss, with an estimated 50 to 80 hearing loss genes still undiscovered. A 2014 review reports that more than 100 genetic loci are associated with nonsyndromic hearing loss, that the disorder can be inherited in autosomal dominant, autosomal recessive, X‑linked, and mitochondrial patterns, and that identifying the implicated genes is essential for diagnosis and rehabilitation but does not describe any treatment.
No abstract in this set reports a clinical trial, a drug, or an outcome in patients with autosomal recessive nonsyndromic hearing loss 1A. No survival or response rates are given because no drug was tested. The abstracts are reviews and genetic studies that catalogue genes and inheritance patterns but do not test any compound. The only mention of a future treatment is the 2020 review’s statement that gene therapy “may be a viable management option in the future.”
What is missing is any clinical trial testing a drug for this specific condition, any patient‑stratified study that links a genotype to a drug response, and the funding or trial design needed to move from gene discovery to a treatment. The abstracts themselves acknowledge that most hearing‑loss genes remain unknown, and that the complexity of the auditory apparatus makes intervention difficult.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
New England Journal of Medicine · 2000 · 202 citations
Genetic Causes of Hearing Loss
AbstractHearing loss is the most common sensory defect in humans, affecting normal communication in 10 percent of people aged 65 years or older. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors. However, single-gene mutations can lead to hearing loss. In these cases, hearing loss is a monogenic disorder with an autosomal dominant, autosomal recessive, X-linked, or mitochondrial mode of inheritance. These monogenic forms of hearing loss can be syndromic (characterized by hearing loss in combination with other abnormalities) or nonsyndromic (with only hearing loss). This review focuses on nonsyndromic hearing loss, since . . .
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.
American Journal of Audiology · 2004 · 1 citations
Clinical Genetic Study of 144 Patients With Nonsyndromic Hearing Loss
AbstractHearing loss constitutes an important category of congenital defects that can be isolated or part of the phenotypic spectrum of several syndromes. A clinical genetic study was performed on a sample of 144 patients with nonsyndromic hearing loss, establishing the sex distribution, type, degree, symmetry, laterality, progression, etiology, and, when possible, inheritance pattern.
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.
Medicinos teorija ir praktika · 2014 · 0 citations
Hereditary hearing loss. Genetic factors in ethiopathogenesis of deafness
AbstractCongenital hearing loss is one of the most common defects diagnosed 1 in 1000 newborns. Prelingual hearing loss disturbs development of the child and it is one of disabling conditions in present day environment. It is a highly heterogeneous disorder, with the majority of cases having genetic etiology. Ear is a very complex organ, proper development of the tissues in macroscopic, microscopic and molecular levels and function are essencial for the perception of sound. These processes are influenced mostly by genetic factors. Recent advances in the gene identification techniques have revolutionized the clinical approach to congenital hearing loss. More than 400 and 100 genetic loci are associated with syndromic and nonsyndromic hearing loss respectively. High heterogeneity of hearing loss is important in genetic counselling – the disorder may be inherited in autosomal dominant, autosomal recessive, X recessive and mitochondrial manner. In this review we discuss the structure and the function of auditory organ, the pathogenic mechanisms of hearing loss and provide the clinical approach. The identification of genes implicated in pathogenesis of hearing loss is essential in establishing of genetic diagnosis and rehabilitation, opens new perspectives in treatment, and allows predicting the severity of the disorder, progression and effectiveness of rehabilitating measures.
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.
