DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome — screening already-approved drugs against its 32-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 maps to a 32-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 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
catechol-O-methyltransferase (COMT) — COMT 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 samdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5LSA · 1.5 Å · ligand S-ADENOSYLMETHIONINE (SAM). 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, and the disorder exhibits an oligogenic mode of transmission in some families, where mutations at different BBS loci can interact to cause or modify the phenotype. One 2023 case in a near-term female infant 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 shows wide variability in expression, even within the same family.
Cardinal features include retinitis pigmentosa, polydactyly, central obesity, mental retardation or learning difficulties, hypogonadism, and renal dysfunction. Other reported manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological findings, hypertension, and bilateral hydronephrosis. A 2020 report notes that fewer than 15 cases had been reported from India at that time. Historically, patients were generally lost due to renal insufficiency at young ages. One 2016 case report describes a 12-year-old male, and another a 14-year-old male, both exhibiting characteristic features. A 2023 report describes a term infant presenting with intrauterine growth retardation, acute respiratory distress, polydactyly, bilateral hydronephrosis, and microcephaly.
No therapeutic trials, drug interventions, or survival data beyond the general historical observation of early renal failure are reported in these abstracts. There are no controlled studies, no quantified response rates, and no evidence for any drug modifying the course of the disease. What is missing is any clinical trial infrastructure for this ultra-rare condition, funding for natural history studies that could define endpoints, and any attempt to stratify patients by the specific BBS gene mutated.
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.
AbstractA case diagnosed as Bardet-Biedl syndrome with polydactyly and hypertension has been presented here. Bardet-Biedl syndrome is an autosomal recessive disorder, which includes renal dystrophy, dystrophic extremities (often polydactyly), obesity, hypogenitalism, renal disease, and mental retardation. It was first described by John Z. Laurence and Robert Moon. The basic components of the syndrome were established by George Bardet in 1920 and Arthur Biedl in 1922. Although it is still referred to as Laurence-Moon-Bardet-Biedl in some reports, it has recently acquired the name Bardet-Biedl syndrome. Patients were generally lost due to renal insufficiency at young ages.
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.
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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