DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hereditary spherocytosis type 3 — 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 moduleHereditary spherocytosis type 3 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 hereditary spherocytosis type 3 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
spectrin repeat containing nuclear envelope protein 1 (SYNE1) — SYNE1 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 pgedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6R15 · 1.82 Å · ligand TRIETHYLENE GLYCOL (PGE). Experimental structure, not a prediction.
What the evidence adds up to
Hereditary spherocytosis type 3 is not mentioned in any of the provided abstracts. The 1978 linkage study of fifteen kindreds with dominant hereditary spherocytosis found a significant linkage between the disorder and the Gm (IgG) marker, with a maximum lod score of 3.42 at a recombination fraction of 22%. No heterogeneity of the recombination fraction was observed between sexes or between families, and the authors concluded the results were compatible with the hypothesis that hereditary spherocytosis is not a heterogeneous disorder. The study also examined a family with an 8/12 translocation, providing evidence that at least one locus for hereditary spherocytosis is located near the breakpoint of that translocation.
A 1991 review described hereditary spherocytosis as a relatively common haematological disorder that will be encountered by all haematologists. It noted an abundance of new information dealing principally with molecular and genetic aspects of pathophysiology, but stated that these advances had not yet exerted a large influence at the therapeutic level. The review mentioned the promise of prenatal diagnosis as an exciting development.
A 2011 literature review described hereditary spherocytosis as a common inherited disease presenting with haemolytic anaemia, jaundice, and splenomegaly. It provided a contemporary classification and approaches to diagnosis and treatment depending on disease severity and the presence of frequent complications. No specific drug, treatment outcome, survival data, or response rates are reported in any of the three abstracts. No abstract addresses hereditary spherocytosis type 3 as a distinct subtype, and no clinical trial data are presented. What remains missing is any evidence from controlled trials, any molecular characterisation specific to type 3, and any patient stratification by genotype that would allow targeted intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Blood · 1978 · 37 citations · open access
Linkage and gene localization of hereditary spherocytosis (HS)
AbstractFifteen kindreds with dominant hereditary spherocytosis (HS) were studied. Expansion of the data from a family with an 8/12 translocation provided further evidence that at least one locus for HS is located near the breakpoint of the translocation. Linkage analysis of all families showed a lack of linkage with all marker loci studied except for Gm (IgG). Linkage between Gm and HS was shown to be significant with a maximum lod score of 3.42 at a recombination fraction of 22%. No heterogeneity of the recombination fraction was observed either between sexes or between families. These results are compatible with the hypothesis that HS is not a heterogeneous disorder.
Journal of Clinical Pathology · 1991 · 8 citations · open access
Current problems in haematology. 2: Hereditary spherocytosis.
AbstractHereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these advances have not yet exerted a large influence at therapeutic level, the promise of such advents as prenatal diagnosis make this an exciting field to watch.
Health and Ecology Issues · 2011 · 1 citations · open access
HEREDITARY SPHEROCYTOSIS IN CHILDREN: MODERN CONCEPTION (literature review)
AbstractThe modern conception of hereditary spherocytosis has been considered in the article. Hereditary spherocytosis is a common inherited disease declaring itself in haemolytic anaemia, jaundice and splenomegaly. The contemporary classification, approaches to the diagnosis and treatment depending on severity of the disease course and presence of the most frequent complications have been given.
[Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of <i>SPTB</i> Gene].
AbstractOBJECTIVE: To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis. METHODS: The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases. RESULTS: mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin. CONCLUSION: gene may be the reason for the hereditary spherocytosis in this family.
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.
