DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome 28 — 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 28 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 28 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
Joubert syndrome is an autosomal recessive congenital disorder. In a series of five children diagnosed at a single hospital between 1971 and 1996, partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Episodic hyperpnoea occurred in all five, with periods of apnoea in two. Abnormal eye movements were noted 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 in the first five years of life; the remaining three showed severe mental retardation. The authors concluded that the syndrome has a bad prognosis and is probably underdiagnosed.
A 2010 case report lists the same core features — hypotonia, ataxia, developmental delay — and notes that additional variable features can include retinal dystrophy, cystic kidney disease and liver fibrosis. That report states that treatment is symptomatic and supportive, and that infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
A 2023 paper describes a case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. No treatment or outcome data from that case are provided in the abstract.
No drug treatment is mentioned in any of these abstracts. There is no evidence of any pharmacological intervention being tested for Joubert syndrome in these reports. What is missing is any trial of a drug, any preclinical model testing a compound, any biomarker that could stratify patients by genetic subtype, and any funding for a repurposing screen.
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
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
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.
