Rare & Orphan Lab · DeCure for X

DeCure for Chediak-Higashi syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Chediak-Higashi 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 module4 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:2935$DeCureRare

The disease map

Disease moduleChediak-Higashi 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 chediak-higashi 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

interleukin 1 beta (IL1B)IL1B 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 2sdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 5R8Q · 1.23 Å · ligand 1-methyl-N-{[(2S)-oxolan-2-yl]methyl}-1H-pyrazole-3-carboxamide (JGY). Experimental structure, not a prediction.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

International Journal of Gynecology & Obstetrics · 1993 · 11 citations

Chediak-Higashi syndrome in pregnancy

AbstractWe report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which influence a wide range of physiologic processes. Pregnancy did not seem to exert any influence on the course of the disease. The pregnancy, labor, and delivery were not affected and the infant and placenta were normal.

https://doi.org/10.1016/0020-7292(93)90822-e
DergiPark (Istanbul University) · 2012 · 1 citations · open access

Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature

AbstractThe Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by partial oculo-cutaneous albinism, frequent pyogenic infections, presence of giant granules in leucocytes and other granule containing cells. Associated findings include silvery hair, photophobia, horizontal and rotatory nystagmus, hepatosplenomegaly and peripheral neuropathy. Mutation of the LYST gene defines the syndrome. The first case of Chediak Higashi Syndrome was reported by Bequez-cesar in 1943. Since its first description, around 170 cases have been reported in the literature till date and 10 cases have been reported from India.

https://doi.org/10.17334/jps.66019

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.