DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 7 — 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 7 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 7 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 developmental disorder with significant clinical and genetic heterogeneity. It is modelled as an autosomal recessive trait, but 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 or modify the phenotype. Twelve BBS genes had been cloned by 2008; by 2016, mutations in 16 genes had been identified as causative factors. A 2023 case of a near-term female infant with growth retardation, polydactyly, bilateral hydronephrosis and microcephaly found 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 syndrome presents with progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. A 2005 case of a nine-year-old boy with recent loss of vision in the dark, polydactyly, significant mental retardation, and poor vision showed a pale optic disc and loss of electroretinographic response under scotopic and photopic conditions. A 2018 case of a 14-year-old boy with obesity, difficulty in vision and hypogonadism was diagnosed based on clinical features, and only symptomatic treatment and counselling were discussed.
No drug treatment is mentioned in any of these abstracts. The literature consists entirely of case reports and genetic reviews. There is no controlled trial, no interventional study, and no evidence that any pharmacological agent modifies the course of retinal dystrophy, obesity, or renal dysfunction in Bardet-Biedl syndrome. What is missing is any funded clinical trial, any attempt at patient stratification by genotype, and any systematic effort to test repurposed or novel compounds against the known cellular defects.
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.
AbstractBardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Herein we discussed a patient with BBS who had multiple pigmented nevi.
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.
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.
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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