DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for Joubert syndrome with renal defect — 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 with renal defect 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 with renal defect 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
A 61-year-old woman with AHI1-related oculorenal Joubert syndrome first showed decline in renal function in her 50s, an exceptionally late presentation. This single case report underscores that renal disease in Joubert syndrome can appear decades later than the typical childhood or young-adult onset, and that continued monitoring of renal function in older adults with the syndrome is warranted.
Among 17 children with Joubert syndrome at a single centre in China, 12 were male and 5 female, aged from 12 days to 15 years 8 months. Neurological involvement was most common; renal involvement was second most common. End-stage kidney disease occurred in 6 cases (35%), haematuria in 5 (29%), proteinuria in 5 (29%), renal diffuse lesions in 4 (24%), renal cystic lesions in 2 (12%), and echogenic enhancement of parenchyma in 2 (12%). Of the 10 children who had genetic testing, all 3 with renal deficiency carried an RPGRIP1L gene mutation. The authors propose that RPGRIP1L may be the most common gene mutation in Joubert syndrome and may correlate with renal involvement.
Twenty-five to 30% of patients with Joubert syndrome have renal involvement, according to a review. Two forms are described: the rarer Dekaban–Arima syndrome, which includes congenital blindness and occasional encephalocele, and the more common juvenile nephronophthisis, a progressive interstitial fibrosis with small cysts at the corticomedullary junction. Nephronophthisis is the most frequent genetic cause of end-stage renal disease in the first three decades of life, with symptoms—urine concentrating defects, polydipsia, polyuria, and secondary enuresis—starting at about 6 years of age.
What is still missing are prospective studies that track renal function from diagnosis into adulthood, standardised protocols for when to start monitoring, and genetic stratification to identify which mutations carry the highest renal risk. No trial has tested whether early intervention alters the course of renal decline in Joubert syndrome.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractAbstract Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults. We report a 61-year-old female diagnosed with AHI1-related oculorenal Joubert syndrome, who presented initially with decline in renal function in her 50s. Our report describes exceptionally late presentation of renal disease in Joubert syndrome and highlights the importance of continued renal function monitoring in older adults with Joubert syndrome.
Indian Journal of Nephrology · 2021 · 5 citations · open access
A Case of Joubert Syndrome with Chronic Kidney Disease
AbstractJoubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy and has variable renal involvement. Herein, we report a case of a 9-year-old boy with developmental delay, presented as chronic kidney disease and evaluation showed features of Joubert syndrome. Recognition of specific clinical and radiological findings will help in early diagnosis and appropriate care.
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
AbstractBACKGROUND: Joubert Syndrome (JS) is a rare genetic developmental disorder. We are aiming for increasing awareness of this disease especially kidney involvement in children with JS. METHODS: Clinical and genetic data of 17 cases of JS in Beijing children's hospital in the past 21 years were collected retrospectively. RESULTS: Twelve males and 5 females, aged from 12d to 15y8m. The most common involvement was neurological system involvement. The second most common involvement was renal involvement: end stage kidney disease in 6 cases (35%), hematuria in 5 cases (29%), proteinuria in 5 cases (29%), renal diffuse lesions in 4 cases (24%), renal cystic lesions in 2 cases (12%), and echogenic enhancement of parenchyma in 2 cases (12%). 10 cases did genetic tests. 3 cases with renal deficiency all had RPGRIP1L gene mutation. CONCLUSIONS: The most common involvement of JS is neurological involvement, and the second is renal involvement. Pediatricians should improve awareness of JS and conduct systemic evaluation of children. More attention should be paid to renal involvement which may be onset hidden but fatal. Early recognition and diagnosis are the goals to delay the start to dialysis and improve quality of patients' life. The RPGRIP1L gene mutation maybe the most common gene mutation in JS and may have correlations with renal involvement.
Journal of Pediatric Neurology · 2022 · 1 citations
Joubert Syndrome and Renal Implication
AbstractAbstract Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis.
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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