DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 9 — 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 moduleBardet-Biedl syndrome 9 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 bardet-biedl syndrome 9 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
neurofibromin 1 (NF1) — NF1 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 1sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7PGU · 3.3 Å · ligand (1S)-2-{[(2-AMINOETHOXY)(HYDROXY)PHOSPHORYL]OXY}-1-[(PALMITOYLOXY)METHYL]ETHYL STEARATE (PEV). Experimental structure, not a prediction.
What the evidence adds up to
Bardet-Biedl syndrome is a rare autosomal recessive disorder with an estimated frequency of 1:160,000. It is characterised by central obesity, retinal dystrophy or retinitis pigmentosa, polydactyly, mental retardation or cognitive impairment, hypogonadism, and renal dysfunction. Other reported manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological findings. Mutations in 16 genes have been identified as causative. The disorder exhibits significant clinical and genetic heterogeneity, and recent data have unmasked an oligogenic mode of transmission in which mutations at different BBS loci can interact genetically in some families to cause or modify the phenotype. Wide variability in expression occurs even among members of the same family.
Case reports describe individual patients presenting with these features. A 12-year-old male, a 14-year-old male, and a 30-year-old male have been reported, the latter presenting with ascites and dyspnoea due to abdominal tuberculosis. That patient had been entirely blind since age 9 with confirmed retinitis pigmentosa, and examination showed central obesity, almond-shaped eyes, moon-shaped face, and hexadactyly in the left lower limb. Liver function tests, renal function tests, lipid profile, and abdominal ultrasound were abnormal. Beales diagnostic criteria confirmed the syndrome. Less than 15 cases have been reported from India.
No drug treatment for the underlying syndrome is described in any of these abstracts. Management is limited to symptomatic treatment, genetic counselling, psychosocial support, nutritional counselling, and a personalised care plan involving a multidisciplinary team with regular monitoring and supportive services such as neuropsychological and psychiatric care. What remains missing are any clinical trials of pharmacological interventions, any data on drug repurposing, any systematic patient stratification by genotype, and any funding directed toward testing specific therapies for Bardet-Biedl 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.
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.
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.
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.
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.
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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