DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for inherited retinal dystrophy — screening already-approved drugs against its 32-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleInherited retinal dystrophy maps to a 32-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 inherited retinal dystrophy 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
aspartate beta-hydroxylase (ASPH) — ASPH 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 akgdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9FVU · 1.7 Å · ligand 2-OXOGLUTARIC ACID (AKG). Experimental structure, not a prediction.
What the evidence adds up to
In a UK national surveillance study from 2006–2008, 241 children under 16 received a new diagnosis of an inherited retinal disorder, representing an annual incidence of 1.4 per 100,000 children and a cumulative incidence by age 16 of 22.3 per 100,000. Twenty-four distinct diagnoses were recorded; 14% of children had additional systemic disorders and 13% had dual sensory impairment. The rate was higher in males than females (relative rate 1.53), in Asian compared with White children (relative rate 7.12), and in the most deprived socio-economic quintile compared with the least deprived (relative rate 1.43). Parents were the most common first detectors of vision problems, and up to seven different health professionals were involved in early management, with variation in access to low vision aids, educational statements, and sight-impairment certification.
A 12-year follow-up of a single boy with oculo-auricular syndrome due to HMX1 mutation showed that the retinal degeneration is a progressive rod-cone dystrophy. Initial full-field electroretinograms demonstrated rod dysfunction greater than cone dysfunction, and repeat recordings showed rapid deterioration of both rod and cone function. The authors state that visual prognosis is guarded given the progressive nature of the dystrophy in early infancy.
A single-family study of 14 examined members identified five individuals with a previously unreported sheen retinal dystrophy characterised by a glistening inner retinal surface in the posterior pole. Visual loss occurred in three affected patients later in life due to superficial polycystic retinal edema and retinal folds. Electroretinography showed selective reduction of the b wave. Pathological examination of two eyes from one patient revealed an abnormal internal limiting membrane, schisis cavities in the inner retina, and capillary changes including endothelial cell swelling, pericyte degeneration, and basement membrane thickening. Pedigree analysis suggested autosomal dominant inheritance. The suspected but unproven cause is a primary defect in Müller cells. No effective treatment for the associated visual loss is known.
What is still missing: no therapy is tested or proposed in any of these reports. The UK surveillance study notes that data on incidence and management are needed for planning future treatment programmes, but no trial design, funding, or patient stratification strategy is provided. For the HMX1-related dystrophy and the familial internal limiting membrane dystrophy, no molecular treatment, gene therapy, or drug intervention has been attempted or described.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Ophthalmology · 2011 · 26 citations
Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK
AbstractBACKGROUND: A prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood. METHODS: Children aged <16 years with a new diagnosis of an inherited retinal disorder made between September 2006 and February 2008 in the UK were identified through two national active surveillance schemes. Clinical and socio-demographic information was collected on each child at diagnosis and 9 months later using standardised questionnaires. RESULTS: 241 patients were reported with 24 distinct diagnoses. 14% had additional systemic disorders and 13% had dual sensory impairment. Annual incidence was 1.4/100,000 children (aged 0-15 years) and the cumulative incidence by age 16 years was 22.3/100,000 children. The most common mode of inheritance was autosomal recessive. A significantly higher rate was seen in males than females (relative rate (RR) 1.53), in children of Asian compared with White ethnicity (RR 7.12) and in those in the worst quintile of socio-economic deprivation compared with those in the best (RR 1.43). Parents most commonly detected a problem with their child's vision. Up to seven different health professionals were involved in a child's early management, and variations were noted in the proportion of eligible children having assessments for low vision aids, statement of educational needs and certification as sight-impaired. CONCLUSIONS: These findings illustrate the highly heterogeneous nature of childhood retinal dystrophies and provide previously unavailable data on disease incidence, distributions and management, which are important for service provision and for planning future treatment programmes, particularly as novel therapies become available.
Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation
AbstractPURPOSE: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. BACKGROUND: Oculo-auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas and rod-cone dystrophy. METHODS: Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations, fundus photographs, Goldmann perimetry and full-field electroretinograms (ERG). RESULTS: Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter, a rapid deterioration in rod and cone function was detected on follow up ERGs. CONCLUSION: The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy.
AbstractOBJECTIVE: To describe the clinicopathologic features of a previously unreported retinal dystrophy. METHODS: Fourteen members of a single family were examined. The medical records of 2 additional family members were reviewed. Pathologic examination was performed on 2 eyes of 1 affected patient. RESULTS: Five individuals were identified with a retinal dystrophy characterized by a glistening inner retinal surface throughout the posterior pole. Visual loss occurred in 3 affected patients in later life owing to superficial polycystic retinal edema and retinal folds. Electroretinographic testing revealed a selective diminution of the b wave. Pathologic examination revealed an abnormal internal limiting membrane with schisis cavities in the inner retina. Endothelial cell swelling, pericyte degeneration, and basement membrane thickening were present in retinal capillaries. CONCLUSIONS: A previously unreported sheen retinal dystrophy is described. Pedigree analysis suggests an autosomal dominant mode of inheritance. A primary defect in Müller cells is the suspected, but unproved, cause. No effective treatment for the associated visual loss is known. The term familial internal limiting membrane dystrophy is proposed to describe this condition.
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.
