DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for fragile X syndrome — screening already-approved drugs against its 17-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFragile X syndrome maps to a 17-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 fragile x 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
phosphodiesterase 4D (PDE4D) — PDE4D 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 difluoromethoxydrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5WH6 · 1.6 Å · ligand 1-[4-(difluoromethoxy)-3-{[(3S)-oxolan-3-yl]oxy}phenyl]-3-methylbutan-1-one (AKJ). 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.
Annals of Saudi Medicine · 2000 · 12 citations
Cytogenetic Diagnosis of Fragile X Syndrome: Study of 305 Suspected Cases in Saudi Arabia
AbstractBACKGROUND: Fragile X syndrome is the most common cause of inherited mental retardation. Patients with fragile X syndrome show variable mental disability, typical long and narrow facial appearance with large ears and prominent fontanelle and frequent macro-orchidism. It is generally associated with a fragile site at Xq 27.3, which can be observed in the metaphase chromosome following selective culture conditions. At the molecular level, the fragile X syndrome is associated with an amplification of CGG repeat sequence of the FMR1 gene. The prevalence estimates are reported as one per 1500 males and one per 2500 females. Estimated prevalence rates of fragile X syndrome in different ethnic groups range from 0.4-0.8 per 1000 in males and 0.2-0.6 per 1000 in females. In this study, we have determined the frequency of fragile X-positive cases in 305 preselected patients. MATERIALS AND METHODS: Three hundred and five Saudi patients with mental retardation/developmental delay/clinical suspicion of fragile X syndrome were screened for fragile X chromosome by cytogenetic methods. The majority of patients (95.59%) screened were under the age of 20 years. RESULTS: Two hundred and ninety-nine patients (98.03%) were in the category of mild to moderate mental retardation. Twenty-four males (7.86%) and two females (0.65%) were found to express fragile X site at q27.3. The frequency of fragile X-positive cells in males ranged between 7% and 58% (mean 26+/-13.11), while in the females it was between 14% and 21% (mean 12.5+/-35), respectively. CONCLUSION: The frequency of fragile X positive cases found in this study is similar to other reports of fragile X syndrome in preselected patients.
Hong Kong Medical Journal · 2025 · 0 citations · open access
Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population
AbstractINTRODUCTION: Fragile X syndrome (FXS) is a common inherited cause of intellectual disability, and FXS testing is recommended as a first-line genetic investigation for global developmental delay or intellectual disability. This retrospective study evaluated the diagnostic yield of FXS testing and clinical features in Chinese patients in Hong Kong. METHODS: full mutation, including 59 index cases and 44 family members. Clinical features of 70 Chinese patients with FXS, including growth, neurobehavioural features, and other co-morbidities, were evaluated. RESULTS: The diagnostic yield of FXS testing was 0.8%. The median age at diagnosis for index cases was 4.1 years, with a trend towards earlier diagnosis in recent years. In 27 families (44.2%), multiple members carried a full mutation. Prenatal diagnosis was arranged in 11% of families. Developmental delay was observed in all males, compared with 45.0% of females. Intellectual disability affected 86.0% of males but only 30.0% of females. Common co-morbidities included obesity, autism spectrum disorder, attention-deficit/hyperactivity disorder, epilepsy, gastrointestinal problems, and sleep disturbances. Features such as strabismus, scoliosis, and mitral valve prolapse were rarely reported. CONCLUSION: Fragile X syndrome is more than a pure neurodevelopmental disorder. Our findings highlight the importance of early diagnosis and subsequent management, with awareness of relevant surveillance and management guidelines.
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.
