DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hypercholanemia, familial, 2 — 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 moduleHypercholanemia, familial, 2 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 hypercholanemia, familial, 2 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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RCSB Protein Data Bank · entry 7ZYI · 2.88 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
The abstracts provided do not address familial hypercholanemia type 2. They concern familial combined hyperlipidemia (FCHL) and familial hypercholesterolaemia, which are distinct disorders of lipid metabolism. The 1999 review notes that FCHL is genetically heterogeneous and that a major gene for FCHL was identified in a Finnish isolate mapping to a region syntenic to murine chromosome 3. The 2019 review identifies multiple culprit regions for FCHL, including Chromosome-1q21-q24 (USF1 and FOXA2), Ch-11q (APOA5), Ch-16q24, Ch-20q12-q13.1, Ch.4q32.3 (rs6829588), and Ch-19q13.32 containing PVRL-2 (Nectin-2). It states that FCHL phenotype results from multiple molecular defects and that underlying genetic defect identification is important for personalised medicine and gene therapy.
The 2022 systematic review on familial hypercholesterolaemia in children summarises old and new treatment methods but provides no specific drug names, response rates, or survival data. No abstract mentions hypercholanemia, familial, type 2, or any drug tested for that condition. The abstracts contain no concrete numbers such as survival or response rates for any treatment.
What is missing is any clinical trial, case series, or even a single patient report for familial hypercholanemia type 2. No funding has been directed at this specific disease in the provided literature. There is no trial design, no patient stratification, and no drug candidate identified for this 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 · 1999 · 56 citations
Novel genes for familial combined hyperlipidemia
AbstractFamilial combined hyperlipidemia (FCHL) is a complex genetic disorder of unknown etiology. Recently, 'modifier' genes of the FCHL phenotype, such as the apolipoprotein AI-CIII-AIV gene cluster and LPL, have been identified in several populations. A 'major' gene for FCHL has been identified in a Finnish isolate which maps to a region syntenic to murine chromosome 3 where a locus for combined hyperlipidemia has been identified. We review these and other recent studies which indicate that FCHL is genetically heterogeneous.
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.
Journal of Glycomics and Metabolism · 2019 · 1 citations · open access
Molecular and Metabolic Pathogenesis of Familial Combined Hyperlipidemia and Association with Metabolic Syndrome
AbstractBackground The objective of this review is to unify the various genetic defects along with elaborating metabolic pathways in Familial Combined Hyperlipidemia(FCHL) and also to differentiate the phenotype of FCHL from metabolic syndrome. Methods PubMed and Cochrane’s library was searched for keyword “Familial combined hyperlipidemia” and latter with “Familial combined hyperlipidemia genes” to finally shortlist 23 articles. Further search with key words “molecular pathogenesis of familial combined hyperlipidemia” and “metabolic syndrome and familial combined hyperlipidemia” was carried out for finding molecular defects in FCHL, non-molecular findings distinguishing FCHL from metabolic syndrome and overlapping features between FCHL and metabolic syndrome. Results Major culprit regions identified included Chromosome-1q21-q24(USF1 and FOXA2) , Ch-11q (APOA5), Ch-16q24, Ch-20q12-q13.1, Ch.4q32.3 (rs6829588), and Ch-19q13.32 containing PVRL-2 gene (Also known as Nectin-2). The genetic and metabolic pathways linked to FCHL may involve: 1-Defective clearance of Apo-B containing lipoproteins, 2-Overproduction of Apo-B containing lipoprotein i.e., VLDL and 3-Adipose tissue dysfunction. FCHL phenotype showed close resemblance with metabolic syndrome clinical and biochemical features with slight differences. Conclusion The reviewed data suggested that FCHL phenotype is the resultant end outcome from multiple molecular defects and thus underlying genetic defect identification in the index case is important for personalized medicine and incoming gene therapy. Further research is warranted to explore specific genetic defects.
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.
