DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 23 — 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 23 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 23 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
translocase of inner mitochondrial membrane 9 (TIMM9) — TIMM9 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 peedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7CGP · 3.7 Å · ligand 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine (PEE). Experimental structure, not a prediction.
What the evidence adds up to
A 1998 case series from Madrid described five children with Joubert syndrome 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 apnoea. Two patients died before age five, and the remaining three had severe mental retardation. The authors concluded that Joubert syndrome is a rare, probably underdiagnosed condition with a bad prognosis.
A 2002 report from the same hospital presented four of eleven patients (36.36%) who had a more favourable course. Their ages ranged from 25 months to 12 years. Three had age-appropriate comprehensive language; two began speaking at 19 and 20 months. All four walked independently. 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 do mathematics. The authors emphasised that Joubert syndrome is clinically and genetically heterogeneous, and that neuropsychological evaluation is needed before giving a prognosis.
A 2023 paper reported a single case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. No clinical outcomes, treatment, or survival data were provided in the available abstract or supplemental material.
No drug treatment, repurposed or otherwise, appears in any of these abstracts. What is missing for Joubert syndrome 23 specifically is any prospective trial, any biomarker for predicting which children will follow the severe versus favourable course, and any funding for natural history studies that could stratify patients by genotype before attempting to test a 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.
Journal of Nepal Paediatric Society · 2011 · 3 citations · open access
Joubert's Syndrome: A Case Report
AbstractJoubert's syndrome is an autosomal recessive congenital disorder having characteristic clinical features like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. Key words: Joubert's syndrome; molar tooth sign; cerebellar peduncles; vermis hypoplasia. DOI: 10.3126/jnps.v31i2.3908 J Nep Paedtr Soc 2010;31(2):141-142
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
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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