Rare & Orphan Lab · DeCure for X

DeCure for Brachydactyly type E1

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for brachydactyly type E1 — 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 module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0110972$DeCureRare

The disease map

Disease moduleBrachydactyly type E1 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 brachydactyly type e1 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

parathyroid hormone 1 receptor (PTH1R)PTH1R 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 7Y36 · 2.8 Å · ligand none (apo structure). 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.

Indian Journal of Plastic Surgery · 2020 · 1 citations · open access

A Rare Case of Brachydactyly Type A Presenting a Dilemma in Clinical Classification of the Subtype

AbstractBrachydactyly is a condition characterized by congenital shortening of digits or toes, which occurs due to short phalanges, metacarpal or metatarsal bones.[1] This condition may involve more than one digit or toe and depending on the involvement of the underlying bones and number of digits this condition, it is classified into five types (type A-type E).[2] They are inherited as autosomal dominant, recessive, or sporadic varieties. In this report, a rare case of Brachydactyly type A is presented, which had a variable presentation, causing difficulty in classifying the subtype.

https://doi.org/10.1055/s-0040-1714976
PubMed · 2020 · 0 citations

[Clinical practice guidelines for brachydactyly type A1].

AbstractBrachydactyly type A1 (BDA1) is the first autosomal dominant genetic disease recorded in the literature. The main characteristics of BDA1 include shortening of the middle phalanx and fusion of the middle and distal phalanges. So far more than 100 pedigrees have been reported around the world. This paper summarizes the clinical manifestation, pathogenesis, diagnostic criteria and treatment plan for BDA1, with an aim to improve its diagnosis and clinical management.

https://doi.org/10.3760/cma.j.issn.1003-9406.2020.03.015

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.