Rare & Orphan Lab · DeCure for X

DeCure for Amyloidosis cutis dyschromia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for amyloidosis cutis dyschromia — 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 module1 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080932$DeCureRare

The disease map

Disease moduleAmyloidosis cutis dyschromia 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 amyloidosis cutis dyschromia 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.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

PubMed · 2021 · 1 citations

[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].

AbstractOBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with amyloidosis cutis dyschromica. METHODS: High-throughput sequencing was carried out for the proband. Bioinformatic analysis was used to identify the pathogenic variants. The result was verified by Sanger sequencing. RESULTS: A homozygous nonsense variant c.565C>T (p.Arg189X) of the GPNMB gene was identified in the proband, his elder brother and younger sister, which resulted a truncated protein with loss of function. The father of the proband was a heterozygous carrier for the variant. The genotype of his mother was unknown since she had passed away. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.565C>T variant was predicted to be likely pathogenic (PS3+ PM2+ PP1+PP3). CONCLUSION: The novel homozygous GPNMB variant probably underlay the amyloidosis cutis dyschromica in this pedigree. Above finding has expanded the spectrum of GPNMB gene variants.

https://doi.org/10.3760/cma.j.cn511374-20200210-00063
Journal of Pakistan Association of Dermatologists · 2016 · 0 citations · open access

Amyloidosis cutis dyschromia: a case report

AbstractAmyloidosis cutis dyschromia is a very rare variant of primary cutaneous amyloidosis clinically characterized by hyper- and hypopigmented/depigmented macules in generalized distribution. Diagnosis is based on histopathological demonstration of amyloid deposits in papillary dermis and its confirmation by Congo red staining. We hereby report a case of amyloidosis cutis dyschromia.

https://doi.org/10.66344/jpad.v25i4.158

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.