DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bernard-Soulier syndrome — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleBernard-Soulier syndrome maps to a 4-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 bernard-soulier 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.
Molecular view
cholinergic receptor nicotinic epsilon subunit (CHRNE) — CHRNE 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9DMS · 1.92 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
A 2005 case report describes a 14-year-old boy with Bernard-Soulier syndrome who had massive upper gastrointestinal bleeding from a large gastric angiodysplasia. The lesion was too widespread for surgical or endoscopic treatment. After a short course of tranexamic acid and a proton pump inhibitor, he was started on octreotide, a somatostatin analogue. Over 16 months of octreotide therapy, no occult or gross bleeding occurred. This is a single paediatric case, not a controlled trial, and the patient also received other agents before octreotide was started.
A 1988 study of two unrelated families used immunoblot assays to examine platelet glycoproteins in Bernard-Soulier syndrome. In eight homozygotes, residual amounts of glycoprotein Ib were found alongside a near-absence of glycoprotein IX and glycoprotein Ib beta. Eight heterozygotes showed a double band pattern for glycoprotein Ib and roughly half the normal level of glycoprotein Ib beta and glycoprotein IX. The authors concluded that the syndrome is heterogeneous and probably not due to gene deletions.
One abstract from 2017 concerns trichoteiromania and Claude Bernard Horner syndrome, not Bernard-Soulier syndrome, and is irrelevant to this disease. Another abstract from 2001 on marmoset vision is also unrelated.
What is still missing: no randomised trials exist for any treatment in Bernard-Soulier syndrome. The octreotide evidence rests on a single child, with no data on long-term safety, optimal dosing, or efficacy in other bleeding sites. No trial has tested whether residual glycoprotein Ib levels predict treatment response. Patient stratification by glycoprotein profile and funding for a multi-centre registry or controlled study are 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.
Pediatric Hematology and Oncology · 2005 · 12 citations
GASTRIC ANGIODYSPLASIA IN A CHILD WITH BERNARD-SOULIER SYNDROME: Efficacy of Octreotide in Long-Term Management
AbstractGastrointestinal angiodysplasia in association with Bernard-Soulier syndrome has been previously described in adults. The authors report on a 14year-old boy presenting with massive upper gastrointestinal bleeding due to a large gastric angiodysplasia, in whom medical history and laboratory investigations were consistent with Bernard-Soulier syndrome. The vascular lesion was so widespread that surgical or endoscopic therapy was not considered. Therefore, treatment with octreotide, a somatostatin analog, was commenced, following a short course of tranexamic acid and proton pump inhibitor. During the 16-month follow-up with octreotide therapy, no occult or gross bleeding occurred. This case illustrates the utility of using octreotide for the long-term treatment of children with bleeding disorders and angiodysplasia.
Trichoteiromania: An Atypical Case Associated with the Claude Bernard Horner Syndrome
AbstractA 56-year-old woman presented with a 3-year history of broken scalp hairs restricted to the left frontoparietal region. About 6 months prior to this, she presented with left-sided myosis, upper eyelid ptosis, and anhidrosis, and was diagnosed with the Claude Bernard Horner syndrome secondary to C6-C7, C7-T1 and T6-T9 syringomyelia, proven by nuclear magnetic resonance. She initially denied itching localized to the affected scalp. However, after reporting that itching caused the hair disorder, she realized that she actually rubbed the spot. The patient denied cutting or pulling scalp hairs. There was no past history of eczema, seborrheic dermatitis, psoriasis, or alopecia or any other significant past medical history.
Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients
AbstractAbstract A study of the Bernard-Soulier syndrome in two unrelated families using different polyclonal antibodies in a sensitive immunoblot assay showed residual amounts of platelet membrane glycoprotein (GP) lb in the eight homozygotes, as well as the near-absence of GPlb beta and GPIX. The eight heterozygotes studied showed a double band pattern for GPlb and about half the normal level of GPlb beta and GPIX. Therefore, we conclude that the Bernard-Soulier syndrome is heterogeneous and is probably not due to gene deletions.
Pediatric Hematology and Oncology · 2001 · 2 citations
Neurons are selective for local cone-contrast in marmoset V1
AbstractGastrointestinal angiodysplasia in association with Bernard-Soulier syndrome has been previously described in adults. The authors report on a 14year-old boy presenting with massive upper gastrointestinal bleeding due to a large gastric angiodysplasia, in whom medical history and laboratory investigations were consistent with Bernard-Soulier syndrome. The vascular lesion was so widespread that surgical or endoscopic therapy was not considered. Therefore, treatment with octreotide, a somatostatin analog, was commenced, following a short course of tranexamic acid and proton pump inhibitor. During the 16-month follow-up with octreotide therapy, no occult or gross bleeding occurred. This case illustrates the utility of using octreotide for the long-term treatment of children with bleeding disorders and angiodysplasia.
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.
