DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 13 — screening already-approved drugs against its 3-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 13 maps to a 3-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 13 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
Bardet-Biedl syndrome 1 (BBS1) — BBS1 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 6XT9 · 3.8 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 with wide clinical and genetic heterogeneity. As of 2016, mutations in 16 genes had been identified as causative factors. The syndrome was initially modelled as a purely recessive trait, but data from 2004 indicated an oligogenic mode of transmission in some families, where mutations at different BBS loci can interact genetically to cause or modify the phenotype. The condition is caused by a ciliopathic genetic defect affecting the BBSome complex, which is essential for ciliary function and cellular signalling.
The principal clinical features described across the case reports include retinitis pigmentosa, polydactyly, central obesity, mental retardation or cognitive impairment, renal dysfunction, and hypogonadism. Other reported manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological signs. A 12-year-old male and a 14-year-old male each exhibited characteristic features of the syndrome. A nine-year-old boy presented with recent loss of vision in the dark, polydactyly of the feet, significant mental retardation, and poor vision; clinical and electrophysiologic examination showed a pale optic disc and loss of electroretinographic response under both scotopic and photopic conditions. A 30-year-old Indian male was entirely blind since age nine with confirmed retinitis pigmentosa, and also had progressive weight gain, cognitive impairment, central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly of the left lower limb. His liver function tests, renal function tests, lipid profile, and abdominal ultrasound were abnormal, and Beales diagnostic criteria confirmed the syndrome.
No therapeutic intervention for the underlying syndrome itself was tested in any of these reports. The 30-year-old patient was treated for abdominal tuberculosis and received psychosocial support and nutritional counselling. The authors of the 2025 case report state that effective treatment requires genetic counselling and a personalised care plan involving a multidisciplinary team, regular monitoring, and supportive services including neuropsychological and psychiatric care and family support. No drug, surgical procedure, or other disease-modifying therapy for Bardet-Biedl syndrome was evaluated or recommended in any of the abstracts.
What remains missing is any controlled trial of a treatment aimed at the ciliary defect or the downstream consequences of BBS. No data exist on whether any drug can slow retinal degeneration, prevent renal decline, or reduce obesity in this population. The rarity of the syndrome and its genetic heterogeneity make trial design and patient stratification difficult, and no funding for such trials is mentioned in these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Human Molecular Genetics · 2004 · 233 citations · open access
The oligogenic properties of Bardet-Biedl syndrome
AbstractBardet-Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different BBS loci can interact genetically in some families to cause and/or modify the phenotype. Here, I will review and discuss recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance.
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.
Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism
AbstractBardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be different from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical
Archivos de la Sociedad Española de Oftalmología · 2005 · 0 citations · open access
Síndrome de Bardet-Biedl
AbstractUNLABELLED: We report a case of Bardet-Biedl syndrome. CASE REPORT: A nine-year-old boy was having problems of recent loss of vision when in the dark. He was born with polydactyly in the feet for which he had surgery performed when he was seven weeks old. Mental retardation was significant and his vision was poor. Clinical and electrophysiologic examinations showed the existence of a pale optic disc and loss of the electroretinographic response under scotopic and photopic conditions. DISCUSSION: Based on the history, presentation, ophthalmic clinical examination, obesity, mental retardation and dental alterations, the patient was diagnosed with Bardet-Biedl syndrome. Current references are reviewed.
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.
Asian Journal of Advanced Research and Reports · 2025 · 0 citations · open access
Bardet-Biedl Syndrome in a 10-Year-Old Child: Clinical Observation and Literature Review
AbstractAims: To report a pediatric case of Bardet-Biedl syndrome (BBS) and discuss its clinical, diagnostic, and therapeutic aspects in light of current literature. Study Design: Case report and literature review. Place and Duration of Study: Department of Pediatrics, Hôpital Militaire d’Instruction Mohammed V, Rabat, Morocco, 2024. Methodology: We describe a 10-year-old boy, born from a first-degree consanguineous marriage, who presented with growth retardation, obesity, facial dysmorphism, polydactyly, brachydactyly, micropenis, learning difficulties, and decreased visual acuity. Clinical, radiological, ophthalmological, renal, and genetic investigations were performed. Results: The child exhibited multiple features suggestive of Bardet-Biedl syndrome: polydactyly of hands and feet, obesity, retinal dystrophy with extinguished electroretinogram, renal anomalies (horseshoe kidney with asymmetric function), and learning difficulties. Genetic testing was initiated but results were pending at the time of reporting. Symptomatic and multidisciplinary management was initiated (Novas et al., 2015). Conclusion: Bardet-Biedl syndrome is a rare multisystem ciliopathy. Early recognition, even in the absence of genetic confirmation, is essential for timely multidisciplinary management. Visual and renal complications largely determine long-term prognosis.
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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