Rare & Orphan Lab · DeCure for X

DeCure for Brachydactyly type C

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for brachydactyly type C — 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:0110970$DeCureRare

The disease map

Disease moduleBrachydactyly type C 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 c 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

growth differentiation factor 5 (GDF5)GDF5 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 ipadrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 2BHK · 2.4 Å · ligand ISOPROPYL ALCOHOL (IPA). 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.

Clinical Genetics · 2009 · 77 citations

The brachydactylies: a molecular disease family

AbstractBrachydactyly refers to shortening of the hands and/or feet due to missing, deformed, or shortened bones. It may occur as an isolated trait or as part of a syndrome. According to their pattern of skeletal involvement, the isolated brachydactyly forms have been categorized in the groups A-D including several subgroups. As in many other genetic conditions, there is considerable phenotypic overlap between the groups. The identification of the molecular causes of these conditions has offered insights into their pathogenesis. The generation of animal models has facilitated research on the pathogenic events during digit development that lead to the brachydactyly phenotype. These studies have shown that the BMP pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. Together, these genes function in a regulatory network which is deregulated in the disease state. As a consequence of the close interactions within the network, overlapping phenotypes are generated that are, nevertheless, characterized by specific recognizable patterns. This principle does not only apply for the brachydactylies but is also valid for many other disease entities. Groups of diseases that show a common phenotypic pattern due to the deregulation of a molecular network are suggested to be called molecular disease families.

https://doi.org/10.1111/j.1399-0004.2009.01238.x
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

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.