DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 5 — 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 moduleJoubert syndrome 5 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 joubert syndrome 5 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 (three male, two female) were diagnosed in the first year of life between 1971 and 1996. All five had partial absence of the cerebellar vermis, hypotonia, developmental delay, and episodic hyperpnoea. Two also had periods of apnoea, two had abnormal eye movements, three had strabismus, two had tongue protrusion, one had seizures, one had hemifacial spasms, and two had occipital meningocele. Two of the five children died before age five; the three survivors had severe mental retardation. The authors concluded that Joubert syndrome is a rare, probably underdiagnosed condition with a bad prognosis.
A 2019 case report describes a newborn from Guatemala with persistent periodic tachypnoea that led to a diagnosis of Joubert syndrome. The paper notes that the disease involves multiple organs, with major impacts on brain and kidney, and states that early recognition might substantially affect treatment and outcome. Management is said to require a multidisciplinary team.
A 2023 report identifies novel compound heterozygous variants in the TMEM67 gene in a case of Joubert syndrome. The supplemental materials provide no clinical outcome data, survival figures, or treatment results.
No drug treatment is mentioned in any of these abstracts. No trial of any pharmacological intervention for Joubert syndrome 5 is described. What is missing is any controlled clinical data, any drug repurposing study, any biomarker for stratifying patients by severity or renal involvement, and any funding for a trial that could test a candidate therapy.
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
Sage Journals Data · 2023 · 0 citations · open access
sj-pdf-2-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-2-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
International Journal of Integrative Pediatrics and Environmental Medicine · 2019 · 0 citations · open access
A Newborn Infant with Tachypnea
AbstractThe paper presents a case of rare disease – Joubert syndrome, in a patient from Guatemala. The patient presentation characterized by persistent periodic tachypnea in newborn period, which eventually lead to the diagnosis. The disease has multiorgan involvement with the major impacts on brain and kidney. Early recognition of that rare disorder might substantially impacts treatment and outcome. The management of Joubert syndrome requires multidisciplinary team.
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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