DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 16 — 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 moduleBardet-Biedl syndrome 16 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 bardet-biedl syndrome 16 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
AKT serine/threonine kinase 3 (AKT3) — AKT3 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 2X18 · 1.46 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Bardet-Biedl syndrome is a rare autosomal recessive disorder caused by mutations in at least 16 genes, including BBS10. It affects multiple body systems. The core features described across these case reports are retinitis pigmentosa, polydactyly, central obesity, mental retardation or cognitive impairment, and renal dysfunction. Other reported manifestations include diabetes mellitus, heart disease, hepatic fibrosis, hypogonadism, hypertension, and neurological problems. One 2025 case report describes a 30-year-old Indian man who was entirely blind since age 9 with confirmed retinitis pigmentosa, and who also had hexadactyly, central obesity, almond-shaped eyes, a moon-shaped face, and cognitive impairment; his liver and renal function tests, lipid profile, and abdominal ultrasound were abnormal. A 2023 report describes a near-term female infant with intrauterine growth retardation, polydactyly, bilateral hydronephrosis, microcephaly, and acute respiratory distress, in whom genetic testing identified a pathogenic variant and a variant of uncertain significance in BBS10.
Historically, patients were generally lost due to renal insufficiency at young ages. No treatment for the underlying syndrome is described in any of these abstracts. The 2025 case report notes that the patient was treated for abdominal tuberculosis, and that management of Bardet-Biedl syndrome itself consisted of psychosocial support, nutritional counselling, genetic counselling, and a multidisciplinary care plan with regular monitoring. No drug therapy targeting the ciliopathic defect or the BBSome complex is mentioned in any of these papers.
All six reports are single case descriptions or literature reviews; there are no controlled trials, no interventional studies, and no quantitative efficacy data such as survival rates or response rates. What is missing is any clinical trial testing a drug for Bardet-Biedl syndrome, any evidence of disease modification, and any patient stratification beyond the genetic diagnosis. Funding for such trials, appropriate outcome measures for a multisystem disorder, and a trial design that can account for the rarity and heterogeneity of the condition remain absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Bangabandhu Sheikh Mujib Medical University Journal · 2016 · 2 citations · open access
Bardet-Biedl syndrome
AbstractThe Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.
AbstractA case diagnosed as Bardet-Biedl syndrome with polydactyly and hypertension has been presented here. Bardet-Biedl syndrome is an autosomal recessive disorder, which includes renal dystrophy, dystrophic extremities (often polydactyly), obesity, hypogenitalism, renal disease, and mental retardation. It was first described by John Z. Laurence and Robert Moon. The basic components of the syndrome were established by George Bardet in 1920 and Arthur Biedl in 1922. Although it is still referred to as Laurence-Moon-Bardet-Biedl in some reports, it has recently acquired the name Bardet-Biedl syndrome. Patients were generally lost due to renal insufficiency at young ages.
Pediatrics & Neonatal Biology Open Access · 2023 · 1 citations · open access
We are Reporting Bardet-Biedl Syndrome (BBS) in a Term Infant Presenting with Intrauterine Growth Retardation, Acute Respiratory Distress, Polydactyly, Bilateral Hydronephrosis and Microcephaly
AbstractBardet-Biedl syndrome is an uncommon disorder in newborn infants. A near term, female infant presented with growth retardation, polydactyly, bilateral hydronephrosis and microcephaly. Genetic testing showed heterozygous mutations of BBS10 gene for autosomal recessive Bardet Biedl Syndrome. A pathogenic variant, c. 2119_2120del (p.Val 707) and a variant of uncertain significance, c.590>G(p.Tyr 197Cys) was identified in BBS10.
International Journal of Contemporary Pediatrics · 2016 · 0 citations · open access
Bardet biedl syndrome: a rare occurrence
AbstractThe bardet-biedl syndrome (BBS) is a rare autosomal recessive genetic disorder that affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, kidney abnormalities and learning difficulties. We hereby present a 14 year old male patient exhibiting characteristic features of bardet biedl syndrome (BBS) along with a brief review of the literature.
Journal of Medical Case Reports · 2025 · 0 citations · open access
Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report
AbstractBACKGROUND: Bardet-Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem involvement and presents with a variety of phenotypes. CASE PRESENTATION: A 30-year-old adult male patient, Indian by ethnicity, presented with a 2-week history of ascites and dyspnea. The ascitic fluid analysis confirmed abdominal tuberculosis. However, the patient showed other symptoms and signs of a syndromic nature. The patient has been entirely blind since the age of 9 years, with confirmed retinitis pigmentosa. The other complaints were progressive weight gain and cognitive impairment. Examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver functional tests, renal function tests, lipid profile, and ultrasonography of the abdomen were abnormal. Beales diagnostic criteria confirmed Bardet-Biedl syndrome. The patient was treated for abdominal tuberculosis, and psychosocial support and nutritional counseling were provided. CONCLUSION: Effective treatment of Bardet-Biedl syndrome requires genetic counseling and a personalized care plan that includes a multidisciplinary team, regular monitoring, and supportive services such as neuropsychological and psychiatric care and family support. This case also increases clinicians' awareness of the presentation of Bardet-Biedl syndrome and the diagnosis in settings without advanced diagnostic modalities.
Greater South Information System · 2016 · 0 citations · open access
Bardet-Biedl syndrome
AbstractThe Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.
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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