DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 25 — 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 25 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 25 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
centrosomal protein 104 (CEP104) — CEP104 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5LPH · 2.25 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Joubert syndrome is an autosomal recessive disorder defined by hypotonia, cerebellar vermis hypoplasia, and a range of ocular, renal, and hepatic abnormalities. In a 1998 case series of five children diagnosed in the first year of life at a single Spanish hospital between 1971 and 1996, partial absence of the cerebellar vermis, hypotonia, and developmental delay were present in all five. Episodic hyperpnoea occurred in all five, with periods of apnoea in two. Abnormal eye movements were seen 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 children died before age five; the remaining three had severe mental retardation. The authors concluded that Joubert syndrome carries a bad prognosis.
A later 2002 report from the same hospital described four of eleven patients (36%) with what the authors called favourable evolution. Among these four, age ranged from 25 months to 12 years. Three had comprehensive language appropriate for their age; two began speaking at 19 and 20 months. Three exhibited normal language; one communicated only by gestures at last follow-up. All four walked without help. Two were assessed with the Raven scale and showed borderline IQ; both were self-sufficient in daily cleanliness and feeding. One patient could read, write, and perform mathematical calculations. The authors emphasised that Joubert syndrome is clinically and genetically heterogeneous and that prognosis should not be given without a careful neuropsychological evaluation.
A 2023 supplement reported a case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. No clinical outcomes, survival data, or treatment results were provided in the supplement. No drug, therapy, or intervention was tested or mentioned in any of these abstracts. What remains missing for any potential therapeutic development is a clear molecular target, any preclinical or clinical trial data, patient stratification by genotype, and funding for natural history studies or interventional trials.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Neurosciences in Rural Practice · 2018 · 10 citations · open access
Joubert Syndrome with Orofacial Digital Features
AbstractJoubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.
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.
The Internet Journal of Anesthesiology · 2007 · 2 citations
Anesthesia for a Patient with Joubert Syndrome Presenting for MRI of a Transplanted Kidney
AbstractJoubert syndrome is a rare autosomal recessive condition in which there is complete or partial agenesis of the cerebellar vermis. In order to make the diagnosis, there must also be developmental delay, hypotonia, and either abnormal breathing and or abnormal eye movements. (1) The breathing pattern may consist of episodes of both tachypnea and apnea (2). These patients may be sensitive to respiratory depression caused by anesthetics (2). Retinal dystrophy and cystic kidneys may also be associated with this clinical syndrome. This is a report of a patient with Joubert syndrome, presenting for an MRI of a transplanted kidney, who underwent general anesthesia.
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
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.
