DeCure for Anophthalmia/microphthalmia-esophageal atresia syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for anophthalmia/microphthalmia-esophageal atresia syndrome — 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 moduleAnophthalmia/microphthalmia-esophageal atresia syndrome 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 anophthalmia/microphthalmia-esophageal atresia 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
SRY-box transcription factor 2 (SOX2) — SOX2 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 ptddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6T90 · 3.05 Å · ligand PENTANEDIAL (PTD). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Ophthalmology · 2011 · 90 citations
The genetics of anophthalmia and microphthalmia
AbstractPURPOSE OF REVIEW: To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. RECENT FINDINGS: The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed. SUMMARY: The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.
Journal of Surgery and Research · 2023 · 1 citations · open access
Oesophageal Atresia: Clinical Outcome After Surgical Treatment
AbstractBackground: To evaluate the clinical outcome of oesophageal atresia (OA) after surgical treatment we performed a retrospective study with a controlled observational design. Materials and Methods: Data were collected from hospital records, questionnaires and additional interviews with families for all OA children treated at our hospital between 2004 and 2015. Results: Due to a higher incidence of preterm births, OA children showed lower birth weight (p<0.001), worse post-natal adaption (p<0.001) and frequently higher incidence of concomitant diseases (p<0.001) and malformations (p=0.005) like VACTERL (p=0.006) in comparison with normal controls. The surgical correction was performed primarily in 77.4% of the patients, while 9.7% were submitted to a secondary anastomosis. A contrast oesophagogram was performed routinely in most patients, showing an anastomotic leakage in 26.3% of those (more often in preterm, p=0.044) unrelated to moderate or severe documented anastomotic tension (p=0.071). An association with the use of chest drains and trans- anastomotic gastric tubes on postsurgical oesophageal stenosis could not be excluded. As for the clinical outcome, there was a gastroesophageal reflux in 78.9% and stenosis in 73.3% of the patients, leading to feeding problems and the necessity of multiple dilations and gastric acid suppression, respectively. Conclusion: These clinical outcomes are difficult to compare due to the lack of national- and international consensus in the management of OA children. The restructuring of medical training and the practical implementation of the distribution of various congenital malformations in the sense of priority care to selected centres in the state is decisive for future-oriented paediatric surgical care.
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.
