DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 27 — 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 27 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 27 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
No drug treatment is mentioned in any of the provided abstracts. The five abstracts describe Joubert syndrome case series and a single case report, but none test or propose a pharmacological intervention. The 1998 Spanish series of five children reports that two patients died within the first five years of life and the remaining three showed severe mental retardation; all five had partial absence of the cerebellar vermis, hypotonia, developmental delay, and episodic hyperpnoea. The 2002 Spanish series from the same hospital notes that 4 of 11 patients (36%) had a favourable evolution, with three acquiring age-appropriate language and all four walking independently; two of those four had borderline IQ on the Raven scale and were self-sufficient in daily hygiene and feeding, and one could read, write and do arithmetic. The authors of the 2002 paper explicitly state that Joubert syndrome is clinically and genetically heterogeneous and that prognosis should not be given without thorough neuropsychological evaluation.
The 2023 abstracts are supplemental materials for a single case report of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene; they contain no clinical outcome data, no treatment information, and no numbers that can be quoted. No abstract in this set reports a drug trial, a repurposing attempt, or any measurable response to a therapeutic agent. The only interventions described are diagnostic imaging and developmental assessment.
What is missing is any clinical trial of a drug for Joubert syndrome, any funded repurposing study, any attempt to stratify patients by genotype (such as TMEM67 variants) to predict prognosis or treatment response, and any prospective data on whether early intervention alters the natural history. Without such trials, the evidence base for drug repurposing in Joubert syndrome 27 is zero.
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.
Síndrome de Joubert. Presentación de cuatro casos con evolución favorable
AbstractOBJECTIVES: To present 4 patients with Joubert syndrome who had a favourable evolution as well as to show that many cases have better prognosis than it is usually though. CASE REPORT: Anamnesis, image and psychological studies of 4 children with Joubert syndrome, who had been seen in the Pediatric Neurology Service of the University Hospital La Paz of Madrid. RESULTS: Four of our 11 patients with Joubert syndrome (36.36%) presented a favourable evolution. Their age ranged between 25 months old and 12 years old. The comprehensive language corresponded to their ages in 3 patients. Two patients began to talk at 19 and 20 months respectively. Three children exhibited a normal language and 1 only communicated by gestures at the time of the last clinical study. All the four children walked without help. The mental level was calculated by the Raven scale in 2 cases and they showed a borderline intellectual quotient (IQ). Both patients were self sufficient in their daily cleanliness and feeding. A patient was able to read, to write and to make mathematical calculi. CONCLUSIONS: The Joubert syndrome is a heterogeneous disease from the clinic and genetics points of view, as well as in the evolution. Because of that, an attentive neuropsychological evaluation is necessary before giving the prognosis of the children.
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
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
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.
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.
