DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Usher syndrome — screening already-approved drugs against its 25-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleUsher syndrome maps to a 25-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 usher syndrome 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
USH1 protein network component harmonin (USH1C) — USH1C 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 mltdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5XBF · 1.802 Å · ligand D-MALATE (MLT). Experimental structure, not a prediction.
What the evidence adds up to
Usher syndrome is an autosomal recessive disorder characterised by sensorineural hearing loss, progressive retinal degeneration known as retinitis pigmentosa, and sometimes vestibular dysfunction. It accounts for more than half of all cases involving combined deafness and blindness. Prevalence in the general population is estimated at roughly 4.4 per 100,000 individuals, or about 1 in 23,000 in the United States, with heterozygous carriers reaching 1 per 70 normally hearing people. The syndrome is responsible for about 17% of all retinitis pigmentosa cases in the United States.
Nine different genetic loci have been identified, and two specific genes had been found by the year 2000. Usher syndrome type I is the most common and severe form. Structural studies of the five USH1 proteins have provided mechanistic explanations for the hearing and visual deficiencies caused by mutations, but these remain basic science findings with no translation to treatment. A 1994 case report described a 22-year-old patient with Usher syndrome who also had bronchial asthma, an association not previously reported.
There is currently no effective treatment for Usher syndrome. Patients are offered hearing aids, but in cases of severe hearing impairment these provide no benefit. The 2008 review states plainly that no effective treatment exists. The 2000 paper notes that understanding the genes should lay the foundation for eventual treatment strategies, but that foundation has not yet produced any therapy. What is still missing is any clinical trial of a drug or gene therapy for Usher syndrome, adequate funding to move from structural biology to preclinical models, and a way to stratify patients by the specific genetic mutation causing their disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1994 · 344 citations
Clinical diagnosis of the Usher syndromes
AbstractThe Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.
Structures of Usher Syndrome 1 Proteins and Their Complexes
AbstractUsher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations. This review focuses on the structural basis of the USH1 protein complex organization.
Advances in oto-rhino-laryngology · 2000 · 32 citations
Genetic Heterogeneity of Usher Syndrome
AbstractProgress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understanding of the genes involved should not only help the families with US but will also provide much needed basic information about the hearing and visual systems.
Bronchial Asthma in a Patient with Usher Syndrome: Case Report
AbstractThe Usher syndrome is a recessively inherited disorder characterized by the associated deficits of sensorineural hearing impairment and a progressive retinal degeneration called retinitis pigmentosa. A case of Usher syndrome is reported in a 22-year-old atopic patient with asthma. To our knowledge, such an association has not been described previously in the literature.
AbstractUsher syndrome (USH) is inherited in an autosomal recessive mode. The disease is characterized by hearing loss, progressing vision loss, and vestibular dysfunction. In most cases, it is the reason for deafness and blindness in school-age children. The prevalence of USH in the main population is estimated as 4.4 per 100,000 individuals, approximately. The prevalence of heterozygous carriers can reach 1 per 70 normally hearing individuals. There is currently no effective treatment of USH. The patients are provided with hearing aids, but, in case of severe hearing impairement these aids give no effect. In view of this, developing diagnostic methods is important. It is believed that molecular genetic investigations will enable early diagnostics of the syndrome.
AbstractInherited retinitis pigmentosa (RP) in combination with deafness was reported in the 19th century (1,(2), but became known as Usher syndrome from a report by Charles Usher in 1914 (3). Usher syndrome is autosomal recessive (3) and responsible for more than half of the cases involving deafness and blindness (4). It affects about 1 in 23,000 within the United States (5). Estimates are slightly lower from Scandinavia at 1 in 29,000, and as high as 1 in 12,500 from Germany (6). Because the frequency of RP is 1 per 4000 persons (7), Usher syndrome accounts for about 17% of all cases of RP in the United States.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
Usher Syndrome in Adult Nigerians: Report of Two Cases
Abstract<strong>ABSTRACT</strong> This is a report of Usher syndrome in adult Nigerians. Two adults aged 28 and 33 years had retinal degeneration, optic atrophy and visual fields defects consistent with retinitis pigmentosa. Each patient also had a hearing impairment and one patient had ataxia. These are features of Usher syndrome which usually manifests in the first and second decades of life. The late presentation of our patients reflects the inadequacy of the relevant services that could have facilitated early detection and management of the cases. Routine screening of pre-school children for visual and hearing loss is recommended for early detection of these cases.
UP Journal of Ophthalmology · 2023 · 0 citations · open access
Usher Syndrome: A Rare Case
AbstractUsher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for it include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome.1,2 Usher syndrome represents a genetically diverse condition that involves both early onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence vary, the condition has been estimated to occur in three in 100, 000 individuals.
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.
