DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 10 — 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 10 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 10 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
Bardet-Biedl syndrome is a rare autosomal recessive ciliopathic disorder with an estimated frequency of 1:160,000. Fewer than 15 cases have been reported from India. The condition affects many body systems and is characterised principally by central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Signs and symptoms vary among affected individuals, even within the same family. A 2025 case report describes a 30-year-old Indian man who presented with ascites and dyspnoea and was found to have abdominal tuberculosis; he had been entirely blind since age 9 with confirmed retinitis pigmentosa, and examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly of the left lower limb. Liver function tests, renal function tests, lipid profile, and abdominal ultrasonography were abnormal. Beales diagnostic criteria confirmed Bardet-Biedl syndrome. He was treated for tuberculosis and given psychosocial support and nutritional counselling.
A 2023 report describes a near-term female infant with intrauterine growth retardation, polydactyly, bilateral hydronephrosis, and microcephaly. Genetic testing identified heterozygous mutations of the BBS10 gene: a pathogenic variant c.2119_2120del (p.Val707) and a variant of uncertain significance c.590>G (p.Tyr197Cys), consistent with autosomal recessive Bardet-Biedl syndrome. A 2005 case describes a nine-year-old boy with recent loss of night vision, polydactyly of the feet (surgically corrected at seven weeks), significant mental retardation, and poor vision. Examination showed a pale optic disc and loss of electroretinographic response under scotopic and photopic conditions. A 2018 report describes a 14-year-old boy with obesity, difficulty in vision, and hypogonadism; diagnosis was based on clinical features, and appropriate counselling and symptomatic treatment were discussed with his parents. A 2016 report similarly presents a 14-year-old male with obesity, retinitis pigmentosa, polydactyly, hypogonadism, kidney abnormalities, and learning difficulties.
All reports describe diagnosis based on clinical features; no pharmacological treatment for the underlying syndrome is reported. Management is symptomatic and supportive, including genetic counselling, multidisciplinary care, regular monitoring, and neuropsychological and psychiatric support. What remains missing are disease-modifying therapies, prospective natural history studies, and validated outcome measures for clinical trials. No drug treatment for Bardet-Biedl syndrome is mentioned in any of 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.
APIK Journal of Internal Medicine · 2020 · 1 citations · open access
Rare presentation of bardet–biedl syndrome as chronic liver disease with splenomegaly
AbstractBardet–Biedl syndrome is a rare ciliopathic human autosomal-recessive disorder. It is a disorder that affects many parts of the body. Less than 15 cases have been reported from India. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. It is characterized principally by the cardinal symptoms of marked central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The frequency of the syndrome is estimated to be 1:160,000.
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.
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.
Barind Medical College Journal · 2018 · 0 citations · open access
Bardet Biedl syndrome: a case report
AbstractBardet-Biedl syndrome is rare genetic disorder, characterized by gross physical abnormalities like postaxial polydactyly or syndactyly, obesity, visual disturbances, mental retardation, hypogonadism. Diagnosis based on a group of clinical features. Here I am reporting a case of 14 years old boy presenting with obesity, difficulty in vision and hypogonadism. Bardet-Biedl syndrome was diagnosed and appropriate counselling and symptomatic treatment was discussed with his parents.
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.
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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