DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for isolated optic nerve hypoplasia — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleIsolated optic nerve hypoplasia maps to a 2-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 isolated optic nerve hypoplasia 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
paired box 6 (PAX6) — PAX6 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 6PAX · 2.5 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
No drug treatment is discussed in any of the three abstracts. The 2017 review states that optic nerve hypoplasia is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. It notes that a substantial fraction of cases have identifiable genetic causes, typically de novo mutations, and that many of the genes involved are transcription factors critical to eye development. The review does not report any survival or response rates, nor any clinical trial data.
The 1990 study of 40 patients divided them into three groups: 24 with severe bilateral ONH, 10 with mild bilateral ONH, and 6 with unilateral ONH. It found that previously described aetiological factors such as low maternal age or maternal alcohol or drug ingestion were not present in any group. The study does not report any treatment outcomes or survival data.
The 2025 review reiterates that ONH is characterised by a deficiency in retinal ganglion cell axons, leading to decreased visual acuity and visual field loss. It states that the etiology is unknown in most cases, though some genetic and environmental factors have been identified, and that a significant proportion of cases are due to identifiable genetic causes, often de novo mutations. No drug, response rate, or survival figure is reported.
What is still missing: any clinical trial testing a drug for isolated optic nerve hypoplasia; funding for such trials; a clear patient stratification strategy that accounts for the genetic heterogeneity described in these reviews; and an understanding of whether functional impairment is due to altered morphogenesis or neuronal homeostasis, which the 2017 review notes will determine the prospect of therapeutic intervention.
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 · 1990 · 85 citations · open access
Optic nerve hypoplasia in children.
AbstractOptic nerve hypoplasia (ONH) is characterised by a diminished number of optic nerve fibres in the optic nerve(s) and until recently was thought to be rare. It may be associated with a wide range of other congenital abnormalities. Its pathology, clinical features, and the conditions associated with it are reviewed. Neuroendocrine disorders should be actively sought in any infant or child with bilateral ONH. Early recognition of the disorder may in some cases be life saving.
Journal of Medical Genetics · 2017 · 40 citations · open access
Genetic causes of optic nerve hypoplasia
AbstractOptic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing number of genes has been reported, mutations of which can cause ONH. Many of the genes involved serve as transcription factors, participating in an intricate multistep process critical to eye development and neurogenesis in the neural retina. This review will discuss the respective genes and mutations, human phenotypes, and animal models that have been created to gain a deeper understanding of the disorders. The identification of the underlying gene and mutation provides an important step in diagnosis, medical care and counselling for the affected individuals and their families. We envision that future research will lead to further disease gene identification, but will also teach us about gene-gene and gene-environment interactions relevant to optic nerve development. How much of the functional impairment of the various forms of ONH is a reflection of altered morphogenesis versus neuronal homeostasis will determine the prospect of therapeutic intervention, with the ultimate goal of improving the quality of life of the individuals affected with ONH.
Archives of Disease in Childhood · 1990 · 38 citations · open access
Optic nerve hypoplasia: associations and management.
AbstractSince its first description optic nerve hypoplasia has been identified with increasing frequency, and a range of associated problems have been described. The major neurological and endocrine associations are well established, but those factors that predispose to the development of optic nerve hypoplasia remain unclear. To understand the aetiology of these problems better, and to formulate a management regime, we studied a consecutive series of 40 patients who were divided into three groups. Group 1 (n = 24) had severe bilateral optic nerve hypoplasia; group 2 (n = 10) had mild, bilateral optic nerve hypoplasia; and group 3 (n = 6) had unilateral optic nerve hypoplasia. Previously described aetiological factors (for example, low maternal age or maternal alcohol or drug ingestion) were not present in any of the groups; this removes the need to screen a specific population. It is important that careful neurological and developmental assessments are carried out in children with optic nerve hypoplasia to identify potential disease. The role of imaging is discussed.
Güncel Retina Dergisi (Current Retina Journal) · 2025 · 0 citations · open access
Optic Nerve Hypoplasia: Ocular Genetic Studies
AbstractOptic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly characterized by a deficiency in the number of retinal ganglion cell axons due to incomplete development of the optic nerve. ONH is typically characterized by decreased visual acuity and visual field loss. Although ONH can occur in isolation, it is often associated with various neurodevelopmental disorders, brain malformations and systemic pathologies. Although the etiology is unknown in most cases, some genetic and environmental factors have been identified. Recent advances in genetic studies have emphasized the genetic heterogeneity of ONH. While many cases occur sporadically, a significant proportion are due to identifiable genetic causes, often involving de novo mutations.
Optic Nerve Hypoplasia Associated with Porencephalia in a Girl and Retinitis pigmentosa in Her Sister
AbstractAn 18-year-old women (case II-4) had decreased visual acuity, visual-field defects and small optic disks bilaterally that remained unchanged for a follow-up period of 9 years. The patient also had an abnormal cavity within the cerebral hemispheres. Her 29-year-old sister (case II-1) had night blindness, bone corpuscle pigmentation in mottled retinas and nonrecordable electroretinographic responses bilaterally. We believe that the occurrence of optic nerve hypoplasia associated with porencephalia in one patient and retinitis pigmentosa in her eldest sister may be rare.
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.
