DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial hypobetalipoproteinemia 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 moduleFamilial hypobetalipoproteinemia 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 familial hypobetalipoproteinemia 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
angiopoietin like 3 (ANGPTL3) — ANGPTL3 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6EUA · 2.095 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Out of 10 440 Danish newborns screened via cord blood, 266 with very low low-density lipoprotein values below the 2.5 centile were followed up, and familial hypobetalipoproteinaemia was diagnosed in 9 children and their families. In one family described separately, 10 members were affected: six had LDL cholesterol concentrations about 10% of normal, and four had LDL cholesterol reduced to about 50% of normal, which the authors called an "intermediate" form. The variation within a single family was interpreted as possibly reflecting different expression of a single gene or additive expression at a second locus.
A 37-year-old Lebanese woman presented with a total cholesterol of 1.1 mmol/L, HDL cholesterol of 1.0 mmol/L, triglycerides of 0.28 mmol/L, and apolipoprotein B of 0.07 g/L. She was asymptomatic. Her husband, who was also her first cousin, and all other family members except one daughter had apo B levels about 25% of normal. That daughter had undetectable apo B levels. The pattern of inheritance was autosomal dominant.
No treatment or intervention was tested in any of these reports. The condition is rare and was identified through screening or incidental laboratory findings. The natural history and clinical consequences in these families were not described beyond the lipid measurements.
What is missing: prospective natural history data, any controlled trial of a drug or dietary intervention, and a clear understanding of which patients with which apo B or LDL cholesterol levels are at risk for clinical complications. Patient stratification by genotype and long-term follow-up remain absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Disease in Childhood · 1979 · 17 citations · open access
Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.
AbstractOut of 10 440 children, 266 with low (less than 2.5 centile) values for very low-low density lipoproteins in cord serum were chosen to be followed up to find out how many came from families with familial hypobetalipoproteinaemia (FHBL). In 176 families (66% of 266 families), FHBL was diagnosed in 9 children and their families.
Further observations on familial hypobetaliproteinaemia
AbstractA family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10 % of normal. In four LDL-c was reduced to about 50 % of normal; these four patients probably represent the "intermediate" form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.
The Medical Journal of Australia · 1993 · 7 citations
Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic
AbstractOBJECTIVE: To report a case of familial hypobetalipoproteinaemia in a woman who presented after the incidental finding of marked hypocholesterolaemia during laboratory tests. CLINICAL FEATURES: An asymptomatic 37-year-old Lebanese woman presented to the lipid clinic with a serum total cholesterol concentration of 1.1 mmol/L, high density lipoprotein (HDL) cholesterol of 1.0 mmol/L, and triglycerides of 0.28 mmol/L. No secondary cause for the hypocholesterolaemia was established. INVESTIGATION AND OUTCOME: Her serum apolipoprotein B (apo B) levels were markedly reduced at 0.07 g/L. Except for one daughter (IV-4), all other family members including her husband (her first cousin) had apo B levels about 25% of normal. Daughter IV-4 had undetectable apo B levels. Family studies confirmed an autosomal dominant pattern of inheritance consistent with familial hypobetalipoproteinaemia. CONCLUSION: Familial hypobetalipoproteinaemia is a rare condition that should be considered in the differential diagnosis of hypocholesterolaemia. Absence of clinical features, autosomal dominant pattern of inheritance, and reduced apo B levels suggest the diagnosis.
Clinical characteristics of a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant
AbstractFamilial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder usually caused by variants in the APOB gene that frequently interfere with protein length. Clinical manifestations include malabsorption, nonalcoholic fatty liver disease, low levels of lipid-soluble vitamins, and neurological, endocrine, and hematological dysfunction. We present clinical data of a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant.
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.
