DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Schimke immuno-osseous dysplasia — 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 moduleSchimke immuno-osseous dysplasia 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 schimke immuno-osseous dysplasia 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
Schimke immuno-osseous dysplasia is an autosomal recessive disorder caused by SMARCAL1 gene mutations. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. One patient was the first known to have the additional findings of thrombocytopenia and microdontia. Patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline. Dental abnormalities may constitute a diagnostic characteristic.
A 2024 case report described a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. The multidisciplinary consultation provided holistic support from various specialties. No drug therapy was reported to alter the course of the disease in any of the abstracts.
No controlled trials, no survival data, no response rates, and no quantitative outcomes are reported in any of these abstracts. The literature consists entirely of case reports and reviews. What is still missing is any prospective trial design, any patient stratification by genotype or phenotype, and any funding for disease-modifying therapy development.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1993 · 39 citations
Schimke immuno‐osseous dysplasia: Case report and review
AbstractWe report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and microdontia.
American Journal of Medical Genetics · 2000 · 34 citations · open access
Dental findings in the Schimke immuno-osseous dysplasia
AbstractSchimke immuno-osseous dysplasia is a rare autosomal recessive disorder that affects primarily bone, T lymphocytes, kidneys, and skin. The patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline. Dental abnormalities of affected patients have not been discussed in detail. The patient described in this clinical report presented with clinical and radiographic abnormalities that may constitute a diagnostic characteristic in this condition.
South African Journal of Child Health · 2019 · 6 citations · open access
A case report of a patient with Schimke Immuno-osseous dysplasia and co-morbid Moya-moya Syndrome
AbstractSchimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presenting with dysmorphic features, skeletal dysplasia, steroid resistance nephrotic syndrome and cellular immune insufficiency. Central nervous system complications such as Moya-moya syndrome have been reported as a co-morbidity. We describe a case study of a South African child who was diagnosed at 5 years of age. She initially presented with short stature secondary to the skeletal dysplasia. She subsequently developed Moya-moya syndrome and steroid resistant nephrotic syndrome. Genetic studies confirmed the presence of the c. 1439 C>T mutation in the SMARCAL1 protein which has been described in patients with SIOD previously. She demised at the age of 7 years from an inter-current pneumonia.
DOAJ (DOAJ: Directory of Open Access Journals) · 2024 · 0 citations · open access
A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia
AbstractSchimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.
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.
