DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 11 — 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 11 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 11 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
astrotactin 2 (ASTN2) — ASTN2 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 i3pdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5J67 · 3.16 Å · ligand D-MYO-INOSITOL-1,4,5-TRIPHOSPHATE (I3P). 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 genetically heterogeneous; mutations in 16 genes have been identified as causative factors. The syndrome exhibits oligogenic properties, meaning mutations at different BBS loci can interact genetically in some families to cause or modify the phenotype. A 2023 case in a near-term female infant 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).
The cardinal features include central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Other reported manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological problems. A 2005 case report described a nine-year-old boy with polydactyly, mental retardation, poor vision, a pale optic disc, and loss of electroretinographic response under scotopic and photopic conditions. A 2016 report presented a 12-year-old male with retinitis pigmentosa, polydactyly, central obesity, mental retardation, and renal dysfunction. A 2020 case from India, where fewer than 15 cases had been reported, presented with chronic liver disease and splenomegaly. A 2023 report described a term infant with intrauterine growth retardation, acute respiratory distress, polydactyly, bilateral hydronephrosis, and microcephaly.
No drug treatment is mentioned in any of these abstracts. The literature consists entirely of case reports and genetic reviews. What is missing is any clinical trial, any tested intervention, any patient stratification beyond genetic mutation identification, and any funding for therapeutic development. The natural history and genetic architecture are described, but no evidence exists that any drug alters the course of the disease.
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.
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.
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.
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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