DeCure for Bosch-Boonstra-Schaaf optic atrophy syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bosch-Boonstra-Schaaf optic atrophy syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleBosch-Boonstra-Schaaf optic atrophy syndrome maps to a 1-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 bosch-boonstra-schaaf optic atrophy 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.
What the evidence adds up to
A 7-year-old Korean boy with delayed development and borderline intellectual functioning had best-corrected visual acuity of 20/100 in both eyes, latent nystagmus, optic atrophy in both eyes, and diffuse thinning of retinal nerve fibre layers on optical coherence tomography. Targeted panel next-generation sequencing found a novel stop-gain mutation c.513C>G; p.Tyr171Ter in NR2F1, predicted deleterious and absent from population genomic databases. A separate 4-year-old male patient had best-corrected visual acuity of 0.15 in the right eye and 0.1 in the left eye, 16 prism diopters of esotropia, manifest latent nystagmus, pale optic discs, reduced central retinal thickness, and thinning of the retinal nerve fibre layer, ganglion cell layer, and inner plexiform layer. Flash visual evoked potential showed a delayed P100 wave; electroretinography was normal. Brain magnetic resonance imaging showed no distinctive abnormalities. Developmental assessment using a Korean developmental scale gave fine motor and language skill scores of 77% and 84%. Exome sequencing identified a mutation c.208_211del:p.(Lys70Alafs*48) in NR2F1.
Two further patients carried newly detected missense mutations c.329TC (p.Phe110Ser) and c.413GA (p.Cys138Tyr) in NR2F1. The authors noted polymorphism of clinical manifestations and argued for exome sequencing in neuro-ophthalmic diagnosis. A cohort study of 21 individuals with BBSOAS reported common neuroimaging findings: mesial temporal dysgyria, perisylvian dysgyria, posterior predominant white matter volume loss, callosal abnormalities, lacrimal gland abnormalities, and optic nerve volume loss. The syndrome’s common features across reports include optic atrophy and/or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum.
No treatment trial or interventional study for BBSOAS was reported in any of these abstracts. What remains missing is any clinical trial, any drug tested in these patients, any quantitative natural history data beyond single-case or small-cohort descriptions, and any patient stratification by mutation type or severity. No funding for a repurposing screen or preclinical model work is 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.
Ophthalmic Genetics · 2019 · 17 citations · open access
Targeted panel sequencing identifies a novel <i>NR2F1</i> mutations in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
AbstractBackground: Nuclear hormone receptor gene, NR2F1, plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene. However, there have been few studies describing fundus and optical coherence tomography findings on BBSOAS.Materials and methods: The patient underwent a detailed clinical evaluation and ophthalmic imaging followed by targeted panel next-generation sequencing analysis.Results: A 7-year-old Korean boy, with a history of delayed development and borderline intellectual functioning, was referred to our clinic for evaluation of low vision. He was born full-term with no perinatal insults. Best-corrected visual acuity was 20/100 in both eyes, and latent nystagmus was noted. Dilated fundus examinations revealed optic atrophy in both eyes, and optical coherence tomography showed diffuse thinning of retinal nerve fiber layers. Targeted panel next-generation sequencing showed novel c.513C>G; p.Tyr171Ter (NM_005654.4) in NR2F1 gene. This stop-gain mutation was predicted to be deleterious by in silico prediction programs, and was absent in the current population genomic database.Conclusions: We highlighted the value of genetic testing in definite diagnosis of BBSOAS in patients with unexplained optic atrophy.
American Journal of Neuroradiology · 2023 · 6 citations · open access
Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Abstract<h3>SUMMARY:</h3> Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in <i>NR2F1</i> (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive delay, and seizures. This study reports common neuroimaging findings in a cohort of 21 individuals with BBSOAS that collectively suggest the diagnosis. These include mesial temporal dysgyria, perisylvian dysgyria, posterior predominant white matter volume loss, callosal abnormalities, lacrimal gland abnormalities, and optic nerve volume loss.
Journal of the Korean Ophthalmological Society · 2025 · 0 citations · open access
Ocular Abnormalities in Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
AbstractPurpose: We present a case of a patient with genetically confirmed Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS).Case Summary: A 4-year-old male patient attended the ophthalmologic clinic with complaints of esodeviation in his right eye and nystagmus. His best-corrected visual acuity was 0.15 in the right eye and 0.1 in the left eye. The prism and alternate cover test indicated 16 prism diopters of esotropia for both distance and near, and manifest latent nystagmus was noted. Fundus examination showed pale optic discs in both eyes, and optical coherence tomography revealed reduced central retinal thickness and thinning of the retinal nerve fiber layer, ganglion cell layer, and inner plexiform layer. Flash visual evoked potential tests indicated a delayed P100 wave, while electroretinography showed no notable findings. Brain magnetic resonance imaging showed no distinctive abnormalities. Developmental assessment using a Korean developmental scale fine motor and language skill scores of 77% and 84%, respectively. Exome sequencing identified a mutation (c.208_211del:p.(Lys70Alafs*48)) in the <i>NR2F1</i> gene, confirming the diagnosis of BBSOAS.Conclusions: BBSOAS should be considered in the differential diagnosis of patients with optic atrophy and nystagmus. Early diagnosis and recognition of developmental delays are important for optimal management.
Neuromuscular Diseases · 2020 · 0 citations · open access
Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene
AbstractBosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum. We report of the clinical and genetic characteristics of two patients with Bosch-Boonstra-Schaaf syndrome with newly detected of the missense mutations с.329TC (p.Phe110Ser) and с.413GA (p.Cys138Tyr) in the gene NR2F1. The existence of a polymorphism of the clinical manifestations of the syndrome has been shown, and the necessity of using exome sequencing in the diagnosis of neuro-ophthalmic diseases has been substantiated.
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.
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