DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Schinzel-Giedion syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSchinzel-Giedion syndrome maps to a 2-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 schinzel-giedion 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
SKI proto-oncogene (SKI) — SKI 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 -drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6ZVQ · 2.03 Å · ligand D(-)-TARTARIC ACID (TAR). Experimental structure, not a prediction.
What the evidence adds up to
Schinzel-Giedion syndrome is an extremely rare autosomal dominant disorder caused by de novo heterozygous mutations in the SETBP1 gene. The syndrome includes facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Characteristic abnormalities can be identified in the prenatal period and confirmed using molecular genetics. Most affected individuals do not survive after childhood because of the severity of the disorder.
The abstracts describe the clinical features and genetic basis of the syndrome but contain no data on any drug treatment, intervention, or clinical trial. No drug is mentioned in any of the provided abstracts. There are no numbers for survival, response rates, or sample sizes beyond the report of a single case in 1990 (the fifth case in the literature) and later single-case molecular reports.
No evidence of any therapeutic effect, disappointing or otherwise, can be drawn from these abstracts because no therapy was studied. What is still missing is any preclinical or clinical research into treatments, any trial design, any patient stratification, and any funding for such work.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Pediatrics · 1990 · 24 citations
The Schinzel-Giedion Syndrome
AbstractThe authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it presents additional abnormalities that have not been reported previously. The Schinzel-Giedion syndrome includes facially dysmorphic, skeletal, cardiac, and genito-urinary anomalies, but mainly congenital hydronephrosis. The diagnosis can be made by clinical and radiological examinations.
What Do British Columbia Teachers Consider To Be the Most Significant Aspects of Workload and Stress in Their Work? Analysis of Qualitative Data from the BCTF Worklife of Teachers Survey Series, 1: Workload and Stress. BCTF Research Report.
AbstractSchinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the <i>SETBP1</i> gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report <i>SETBP1</i> mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.
Case Reports in Genetics · 2017 · 1 citations · open access
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
AbstractSchinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.
Archives of Clinical and Medical Case Reports · 2023 · 1 citations · open access
Fetal Imaging Findings in a Case of Schinzel Giedion Syndrome
AbstractSchinzel Giedion Syndrome (SGS) is an extremely rare congenital malformation syndrome caused by de novo mutations in the SETBP1 gene. This condition is characterized by distinctive craniofacial dysmorphisms such as midface retraction, severe intellectual disability, increased risk of embryonal tumors, and multiple congenital anomalies, particularly cardiac, renal, and urogenital defects. Characteristic abnormalities can be identified in the prenatal period and confirmed using molecular genetics. We present the prenatal and matching postnatal imaging findings in a case of confirmed Schinzel Giedion 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.
