DeCure's Rare AI scientist maps PYCR1-related de Barsy syndrome for drug repurposing — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. The community decides which DeCure goes to the lab first.
Disease modulePYCR1-related de Barsy syndrome 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
Drugs in the evidence
No approved-drug candidate for pycr1-related de barsy 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2011 · 29 citations · open access
Compound heterozygous mutations in <i>PYCR1</i> further expand the phenotypic spectrum of De Barsy syndrome
AbstractDe Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis in this patient widened the range of symptoms that have been noted in DBS. Mutation analysis of PYCR1 revealed compound heterozygous PYCR1 mutations, including a p.P115fsX7 null mutation allele and a second allele with two missense mutations in cis: p.G248E and p.G297R. The effect of mutation results in a reduction of PYCR1 mRNA expression and PYCR1 protein expression in skin fibroblasts from the patient. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS.
International Journal of Science and Research (IJSR) · 2023 · 0 citations · open access
De Barsy Syndrome (DBS): First Case Reported in Colombia
AbstractDe Barsy syndrome (DBS) is an infrequent autosomal recessive disease, where a relationship has been identified in ALDH18A1 and PYCR1 mutations, mainly producing cutis laxa in the affected patient. Other clinical characteristics are similar to patients with Progeria Syndrome. Diagnosis is usually difficult due to the few cases reported worldwide. In order to identify patients with DBS molecular and/or histopathological studies are necessary.There is no specific treatment in these patients, and management is done according to the associated alterations.Probably, the first case described in Colombia with DBS is described.
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 treatment exists. Committing $DECURE to a DeCure is a vote on research priority — it is not an investment, and confers no royalty, equity or IP ownership. Papers are published open-access.
