DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 9 — 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 moduleJoubert syndrome 9 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 joubert syndrome 9 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
In a 1998 case series from Madrid, five children with Joubert syndrome were reported, all showing partial absence of the cerebellar vermis, hypotonia, and developmental delay. Episodic hyperpnoea occurred in all five, apnoea in two, abnormal eye movements in two, strabismus in three, tongue protrusion in two, seizures in one, hemifacial spasms in one, and occipital meningocele in two. Two of the five died before age five; the survivors had severe mental retardation. The authors described the syndrome as having a bad prognosis and being probably underdiagnosed.
A 2022 case report describes Joubert syndrome as a rare autosomal recessive ciliopathy with characteristic findings including abnormal breathing patterns, hypotonia, ataxia, cerebellar vermis hypoplasia, developmental delay, ocular abnormalities, renal cysts, and hepatic fibrosis. The molar tooth sign on cranial MRI is noted as an important diagnostic finding. A 2023 report identifies novel compound heterozygous variants in the TMEM67 gene in a patient with Joubert syndrome, but provides no clinical outcome data.
No drug treatment, repurposed or otherwise, is mentioned in any of these abstracts. There are no trials, no response rates, no survival statistics beyond the 1998 series. What is missing is any interventional study, any preclinical model testing a drug, any funding for such work, and any stratification of patients by genetic subtype that might one day allow a targeted approach.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Revista de Neurología · 1998 · 4 citations
Síndrome de Joubert: presentación de cinco casos
AbstractOBJECTIVE: To review clinical features, radiological findings and prognosis in Joubert syndrome. MATERIAL AND METHODS: We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. RESULTS: Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. CONCLUSIONS: Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.
Sage Journals Data · 2023 · 0 citations · open access
sj-pdf-1-imr-10.1177_03000605231206294 - Supplemental material for A case of Joubert syndrome caused by novel compound heterozygous variants in the <i>TMEM67</i> gene
AbstractSupplemental material, sj-pdf-1-imr-10.1177_03000605231206294 for A case of Joubert syndrome caused by novel compound heterozygous variants in the <i>TMEM67</i> gene by Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova and Valery Vladimirovich Ilinsky in Journal of International Medical Research
sj-pdf-1-imr-10.1177_03000605231206294 - Supplemental material for A case of Joubert syndrome caused by novel compound heterozygous variants in the <i>TMEM67</i> gene
AbstractSupplemental material, sj-pdf-1-imr-10.1177_03000605231206294 for A case of Joubert syndrome caused by novel compound heterozygous variants in the <i>TMEM67</i> gene by Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova and Valery Vladimirovich Ilinsky in Journal of International Medical Research
Turkish Journal of Pediatric Disease · 2022 · 0 citations · open access
Nadir Bir Siliopati: Joubert Sendromu
AbstractJoubert syndrome is a rare autosomal recessive ciliopathy characterized by abnormal breathing patterns, hypotonia, ataxia, cerebellar vermis hypoplasia, developmental delay, ocular abnormalities, renal cysts and hepatic fibrosis. Molar tooth appearance on cranial magnetic resonance imaging (MRI) is an important finding for the diagnosis of Joubert syndrome. Awareness of the characteristic clinical and radiological findings of the syndrome will allow early diagnosis, appropriate counseling and proper rehabilitation. A patient who admitted to our hospital with hypotonia and abnormal eye movements and was diagnosed with Joubert syndrome is presented.
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.
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