DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for syndactyly type 5 — 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 moduleSyndactyly type 5 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 syndactyly type 5 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
gap junction protein alpha 1 (GJA1) — GJA1 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 7Z1T · 2.26 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2023 study of a Pakistani consanguineous family identified a novel missense variant in the HOXD13 gene (c.969G>T; p.Trp323Cys) as the likely cause of non-syndromic syndactyly in that pedigree. Whole exome sequencing and Sanger sequencing were used, and 3D protein modelling predicted that the variant would cause high-level structural changes that might compromise protein function. The authors note that HOXD13 variants have previously been associated with syndactyly type 5, brachydactyly types D and E, and synpolydactyly type 1. This finding extends the known mutation spectrum of HOXD13 but does not provide any data on treatment or clinical outcomes for the affected individuals.
A 2020 retrospective review from a tertiary plastic surgery service in South-Western Nigeria reported that syndactyly was the most common congenital hand anomaly among 122 cases seen over ten years, accounting for 43 patients (35.2%). The study found a male preponderance (55.1%) and bilateral involvement in 54.9% of all cases. No significant associations were found between the type of anomaly and gender or laterality. This study describes the epidemiology of syndactyly in one Nigerian surgical practice but does not address genetic causes or medical treatment.
An earlier 1983 paper on syndactyly of the toes, based on 43 patients, distinguishes type 1 (zygodactyly) as a cosmetic problem and type 2 (polysyndactyly) as a functional problem requiring surgical correction. The author reports negative experience with complex surgical procedures for polysyndactyly and satisfaction with simpler ones. No drug treatment is mentioned in any of these three papers.
What is still missing is any clinical trial of a drug for syndactyly type 5, any data on non-surgical intervention, and any study that links the HOXD13 variant to a measurable clinical outcome or response to treatment. No funding for drug development, no trial design, and no patient stratification by genotype have been reported for this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Plastic & Reconstructive Surgery · 1983 · 17 citations
Syndactyly of the Toes
AbstractThe experience gained through the management of 43 patients with syndactyly of the toes is presented. The incidence appears to be similar to that of syndactyly of the fingers. Type 1 syndactyly, or zygodactyly, always presented itself as a cosmetic problem; its correction is occasionally indicated and the procedure used is discussed. Type 2 syndactyly, or polysyndactyly, represents a functional problem and deserves surgical correction. My negative experience with the more complex procedures described for the correction of polysyndactyly is presented as well as my satisfaction with the simpler procedures. Suggestions for management are offered.
Nigerian Postgraduate Medical Journal · 2020 · 2 citations · open access
Pattern of congenital hand anomalies at a tertiary plastic surgery service in South-Western Nigeria: A 10-year, cross-sectional retrospective review
AbstractCONTEXT: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. AIMS: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. MATERIALS AND METHODS: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. RESULTS: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. CONCLUSIONS: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.
Journal of Biochemical and Clinical Genetics · 2023 · 1 citations · open access
Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
AbstractBackground: The term &quot;Syndactyly&quot; referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner. Pathogenic variants in the HOXD13 (Homeobox D13) gene, located on chromosome 2q31.1, have been associated with syndactyly type 5, brachydactyly type D, E and synpolydactyly type 1 phenotypes. Objectives: A Pakistani inbreed was recruited from the remote area of the country was added in the study and aimed to clinically and genetically characterize the syndactyly as marked abnormal feature observed. Methodology: Whole exome sequencing coupled with Sanger sequencing was carried out to uncover the disease associated variant/s followed by 3D protein modeling to check variant related effect on protein level. Results: WES data analysis revealed a novel-HOXD13 gene missense variant (c.969G&gt;T; p.Trp323Cys) that might explain the disease phenogenesis. 3D protein modeling of the normal and mutant protein predicated high level changes that might compromise the ultimate function of the protein. Conclusion: Our findings extend the mutation spectrum of HOXD13 gene and also provided additional evidence that HOXD13 play an important role in limbs development.
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.
