DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Simpson-Golabi-Behmel syndrome type 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 moduleSimpson-Golabi-Behmel syndrome type 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 simpson-golabi-behmel syndrome type 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.
What the evidence adds up to
Simpson-Golabi-Behmel syndrome is an X-linked condition defined by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. The syndrome carries an increased risk for developing neoplasia, mainly embryonic tumours such as Wilms tumour. A 1998 report described a three-year-old male patient with SGBS and hepatocellular carcinoma, a tumour not previously associated with the syndrome. The 2024 review notes that the spectrum of signs and symptoms ranges from very mild to fatal forms, especially in affected men, and that on the molecular level there are genomic rearrangements involving point mutations of the glypican-3 (GPC3) gene at Xq26.
No drug treatment is mentioned in any of these abstracts. The 2024 review discusses clinical, paraclinical, therapeutic and monitoring modalities for SGBS type 1 but does not name a specific drug or intervention. The earlier case reports from 1992 and 1993 contribute to delineating the syndrome’s features—postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded—but again offer no therapeutic data.
The only tumour reported in these abstracts is hepatocellular carcinoma in a single three-year-old. No response rates, survival figures, or sample sizes beyond single patients are given. There is no evidence of any drug being tested or repurposed for SGBS in this literature.
What is missing is any clinical trial, any drug safety or efficacy data, any patient stratification by genetic subtype, and any funding directed toward pharmacological intervention for this syndrome. The natural history is still being described, and no therapeutic target has been tested in a controlled setting.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1998 · 49 citations · open access
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
AbstractSimpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.
American Journal of Medical Genetics · 1992 · 32 citations
Further delineation of the Simpson‐Golabi‐Behmel (SGB) syndrome
AbstractThe Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
American Journal of Medical Genetics · 1993 · 25 citations
Further delineation of the Simpson‐Golabi‐Behmel (SGB) syndrome
AbstractThe Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
Egyptian Journal of Medical Human Genetics · 2013 · 3 citations · open access
Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases
AbstractWe report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall.
Scholars Journal of Medical Case Reports · 2024 · 0 citations · open access
Simpson Golabi Behmel Syndrome: A New Case and Review of the Literature
AbstractSimpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. On the molecular level, there are genomic rearrangements involving point mutations of the glypican-3 (GPC3) gene at Xq26. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing the clinical, paraclinical, therapeutic and monitoring modalities of this possibly serious syndrome.
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.
