DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bardet-Biedl syndrome 1 — screening already-approved drugs against its 15-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 1 maps to a 15-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 1 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
tripartite motif containing 32 (TRIM32) — TRIM32 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5FEY · 2.23 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Bardet-Biedl syndrome is a rare autosomal recessive disorder with wide variability in expression. Mutations in 16 genes have been identified as causative factors, and the condition exhibits oligogenic properties, meaning mutations at different BBS loci can interact genetically in some families to cause or modify the phenotype. The syndrome was first described by John Z. Laurence and Robert Moon, with basic components established by George Bardet in 1920 and Arthur Biedl in 1922.
Clinical manifestations include retinitis pigmentosa, postaxial polydactyly or syndactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological manifestations. A 12-year-old male patient and a 14-year-old boy presenting with obesity, difficulty in vision, and hypogonadism have been reported. A nine-year-old boy had recent loss of vision in the dark, was born with polydactyly in the feet, had significant mental retardation, and poor vision; clinical and electrophysiologic examinations showed a pale optic disc and loss of electroretinographic response under scotopic and photopic conditions. Patients were generally lost due to renal insufficiency at young ages.
No drug treatment is mentioned in any of these abstracts. All reported management is symptomatic treatment and appropriate counselling, discussed with parents in one case. The abstracts provide no data on survival rates, response rates, or sample sizes from any interventional study.
What is still missing is any clinical trial testing a drug for Bardet-Biedl syndrome, any money allocated to such a trial, and any patient stratification strategy that might account for the genetic heterogeneity and oligogenic inheritance of the condition.
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.
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.
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.
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 Advances in Medicine · 2020 · 0 citations · open access
A rare case of polydactyly with multiple defects
AbstractBardet-Biedl Syndrome (BBS) is a very rare genetically heterogenous disorder. Here is a case of 27 yr. old obese male presented with acute gastroenteritis with shock in our department. He had polydactyly in both upper limb and left lower limb, blindness since childhood, with difficult in learning and delayed onset of milestones. Patient’s sibling (younger brother 20-year-old) also had same problems since childhood and one female baby died within few days of birth. He was having single testis. Patient was managed conservatively. The available literature on this syndrome was reviewed.
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.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
