DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hypercholanemia, familial 1 — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleHypercholanemia, familial 1 maps to a 5-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 hypercholanemia, familial 1 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
solute carrier family 10 member 1 (SLC10A1) — SLC10A1 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.
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helix sheet clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7ZYI · 2.88 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
The three abstracts provided do not address hypercholanemia, familial 1. The first abstract concerns familial combined hyperlipidemia and the upstream transcription factor 1 gene, noting that three independent studies support a role for that gene in the condition but that the mechanism of causality remains largely unknown. The second abstract is a systematic review of treatment for familial hypercholesterolaemia in children, summarising old and new treatment methods without reporting any specific survival or response rates. The third abstract reviews uncertainties in familial hypercholesterolaemia, stating that the effects of older therapies on prognosis are based on surrogate rather than cardiovascular disease outcomes, that no specific outcome trials in familial hypercholesterolaemia are planned, and that novel expensive therapies may not be cost-effective outside very severe cases.
No abstract mentions a drug tested in hypercholanemia, familial 1, or provides any numerical data on survival or response rates for that disease. The abstracts are entirely about different lipid disorders. There is no evidence from these papers to support any drug repurposing for hypercholanemia, familial 1.
What is missing for hypercholanemia, familial 1 is any clinical trial data, any patient stratification strategy, and any dedicated funding for research into this specific 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.
Current Opinion in Lipidology · 2006 · 46 citations
Familial combined hyperlipidemia: upstream transcription factor 1 and beyond
AbstractPURPOSE OF REVIEW: Familial combined hyperlipidemia is a common complex disease that accounts for up to 20% of premature coronary heart disease. The upstream transcription factor 1, located on 1q21, was recently shown to be linked and associated with familial combined hyperlipidemia in Finnish families. Upstream transcription factor 1 is the first gene identified by positional cloning for familial combined hyperlipidemia. Replication studies are critical to investigation of complex diseases because only they can verify the importance of the original findings. We review recent studies that examine the genetic contribution and functional consequence of upstream transcription factor 1 variants to familial combined hyperlipidemia and type 2 diabetes mellitus. Aiming beyond upstream transcription factor 1, we also evaluate novel strategies that have made it possible to globally examine the genome and the transcriptome. RECENT FINDINGS: Three independent studies support the role of upstream transcription factor 1 in familial combined hyperlipidemia. The results for type 2 diabetes mellitus and the metabolic syndrome have been less conclusive highlight novel strategies for gene identification in familial combined hyperlipidemia. SUMMARY: Currently, genetic and functional evidence is supportive of a role for upstream transcription factor 1 in the etiology of familial combined hyperlipidemia and its component traits, although the mechanism of causality still remains largely unknown.
Pediatric Endocrinology Diabetes and Metabolism · 2022 · 13 citations · open access
Familial hypercholesterolemia – treatment update in children, systematic review
AbstractFamilial hypercholesterolaemia is one of the most common genetic diseases, and its first symptoms occur in childhood. Proper diagnosis and treatment prevent young patients from severe consequences in their future. The treatment of this dyslipidaemia is still evolving, and new promising agents are being discovered. In this review we summarize the old and new treatment methods of familial hypercholesterolaemia, giving an update estimated on the latest publications.
Current Opinion in Lipidology · 2015 · 6 citations
The hinterland of familial hypercholesterolaemia
AbstractPURPOSE OF REVIEW: Familial hypercholesterolaemia is the commonest autosomal dominant disorder in man, but many questions about familial hypercholesterolaemia remain to be answered. Guidelines are increasing in importance as healthcare becomes standardized. The review suggests areas that require more investigation or where pertinent guidelines may need to be reviewed. RECENT FINDINGS: Familial hypercholesterolaemia is commoner than previously thought, but its epidemiology needs further investigation against a background of changing environmental and lifestyle factors that may bear on its phenotypic expression. Screening for familial hypercholesterolaemia may be more difficult than might be thought as cascade testing may not capture all cases effectively and universal screening appears compelling, but requires testing and evaluation. Cardiovascular disease guidelines are moving to being risk based, but familial hypercholesterolaemia stands alone as defined by large database of lipids-cholesterol criteria. A risk-based approach may need to be considered for familial hypercholesterolaemia, but a good evidence base is required. The effects of older therapies on prognosis in familial hypercholesterolaemia are based on surrogate as opposed to cardiovascular disease outcomes. Novel efficacious but expensive therapies are on the horizon, but no specific outcome trials in familial hypercholesterolaemia are planned and they may not be cost-effective outside very severe familial hypercholesterolaemia. Further research is also required to trial and test different models of care for familial hypercholesterolaemia. SUMMARY: Despite familial hypercholesterolaemia being a common genetic condition, aspects of basic epidemiology, risk assessment, treatment, and models of care remain uncertain.
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.
