DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Gilbert syndrome — 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 moduleGilbert syndrome 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 gilbert 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
solute carrier organic anion transporter family member 1B1 (SLCO1B1) — SLCO1B1 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 chloranyldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8K6L · 2.92 Å · ligand 2',7'-bis(chloranyl)-3',6'-bis(oxidanyl)spiro[2-benzofuran-3,9'-xanthene]-1-one (IOQ). Experimental structure, not a prediction.
What the evidence adds up to
Gilbert syndrome is a benign condition that does not progress to chronic liver disease or fibrosis. Diagnosis should be considered in patients with chronic elevation of unconjugated bilirubin, after excluding haemolysis and other liver diseases. The condition is characterised by reduced activity of glucuronyl transferase, leading to decreased clearance of bilirubin and occasional mild jaundice in the absence of hepatic injury or haemolysis. Genetic analysis can provide additional confirmation. Oral manifestations exist but often go unnoticed.
In a series of 46 paediatric orthotopic liver transplant recipients with at least one year of follow-up, 42 had normal bilirubin values. Four otherwise healthy recipients showed hyperbilirubinaemia with normal conjugated fractions; all four donors had been men. Hyperbilirubinaemia persisted with a fluctuating pattern for the entire follow-up. Total bilirubin rose notably after reduced caloric intake and prolonged fasting, while the proportion of conjugated bilirubin remained stable. DNA from liver donors’ lymphocytes was available for one jaundiced and two non-jaundiced patients; tests for abnormalities in the promoter region of the gene for bilirubin uridine diphospho-glucuronosyltransferase confirmed Gilbert syndrome in the jaundiced patient. The authors concluded that Gilbert syndrome may have an unusual early presentation in paediatric liver transplant recipients.
A family with neurofibromatosis type 1 was evaluated for cosmetic surgery. Routine preoperative tests revealed unexpected hyperbilirubinaemia in three children with elephantiasis neurofibromatosa. Further investigation by fasting test led to a coincidental diagnosis of Gilbert syndrome. The authors noted this was the first report of Gilbert disease accompanying familial neurofibromatosis. A separate case report described a 24-year-old male diagnosed with a maxillary radicular cyst who incidentally had Gilbert syndrome; the report highlighted perioperative management considerations, noting that drugs metabolised by glucuronyl transferase need attention along with stress management during surgical procedures.
What remains missing is prospective data on how often Gilbert syndrome is diagnosed incidentally versus how often it causes clinical problems. No controlled trials exist to guide perioperative management or to clarify whether the condition alters drug metabolism in a clinically meaningful way for most patients. The diagnosis still relies on excluding other causes of unconjugated hyperbilirubinaemia, and genetic testing is not routinely available.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Pediatric Gastroenterology and Nutrition · 2000 · 4 citations
Unusual Early Presentation of Gilbert Syndrome in Pediatric Recipients of Liver Transplantation
AbstractBACKGROUND: Gilbert syndrome as a rule becomes manifest in adolescence or in early adulthood; it may be transferred by the donor to orthotopic liver transplant (OLT) recipients. METHODS: We examined the frequency of Gilbert syndrome in 46 OLT pediatric recipients who had a follow-up of 1 year or more. Diagnostic criteria included unexplained chronic or recurrent unconjugated hyperbilirubinemia; its increase after reduced caloric intake plus prolonged fasting, without changes of the proportion of conjugated bilirubin; and high relative amounts of serum unconjugated bilirubin IXa and prevalence of the monoglucuronide over the diglucuronide. RESULTS: Of the 46 patients, 42 had normal bilirubin values. Only four otherwise healthy OLT recipients showed hyperbilirubinemia and normal conjugated fractions. Liver donors had been four men. Hyperbilirubinemia persisted with a fluctuating pattern for the whole follow-up after OLT in all. Total bilirubin level in blood samples obtained after reduced caloric intake and prolonged fasting became notably higher than basal values, whereas the proportion of conjugated bilirubin remained stable. High relative amounts of unconjugated bilirubin IXa and prevalence of the monoglucuronide over the diglucuronide were found. Finally, DNA from liver donors' lymphocytes was available for one jaundiced and two nonjaundiced patients: tests for abnormalities in the promoter region of the gene for the enzyme bilirubin uridine diphospho-glucuronosyltransferase were in agreement with a diagnosis of GS in the former one, CONCLUSIONS: Gilbert syndrome may have an unusual early presentation in pediatric OLT recipients.
AbstractBACKGROUND: Neurofibromatosis (NF) is a genetic disorder of the neural sheet, affecting almost all organ systems. METHOD: A family that consisted of the father and his three children, two males and one female, having NF-1 is evaluated in detail for cosmetic purposes. The routine preoperative laboratory examinations, including complete blood counts, serum biochemistries, urinary analysis, extremity and chest roentgenograms, ultrasounds of the abdomen and the affected regions, and pelvic computed tomographies, revealed characteristics of NF-1 and unexpected hyperbilirubinemia. The patients are evaluated further for the cause of hyperbilirubinemia by the fasting test. Variously localized plexiform neurofibromas of the three children are totally excised. RESULTS: The father was affected as a result of a mutation, and his three children had inherited the disease. The father, having subcutaneous neurofibromas, differs from the children, as they have elephantiasis neurofibromatosa. The children had various rare clinical presentations besides disfiguring deformities. Two male patients had retroperitoneal neurofibromas, and one had splenomegaly and osseous changes. Gilbert's disease was diagnosed, interestingly, and coincidentally in the three patients with elephantiasis due to NF-1. DISCUSSION: An interesting diagnosis of NF occurring coincidentally with Gilbert's disease in a family is reported. This clinical study is the first report of Gilbert's disease accompanying familial NF.
Ethiopian Journal of Health Sciences · 2021 · 3 citations · open access
Gilbert Syndrome in a Young Ethiopian Man: First Case Report
AbstractBACKGROUND: Narcolepsy is a chronic disabling central neurological disorder of daytime hypersomnia. It is categorized into two subtypes-type 1 (N1) and type 2 (N2). Symptoms of N1 commonly include excessive daytime sleepiness (EDS), cataplexy, sleep paralysis, hypnogogic/hypnopompic hallucinations, and disturbed nighttime sleep. Ethnic differences have been observed, but they have not been reported in an Ethiopian patient to date. CASE DETAIL: We report a 39-year-old Ethiopian patient with type 1 narcolepsy whose diagnosis was delayed for three decades despite severe symptoms. Her quality of life was significantly impaired and included EDS, sleep fragmentation, and depression. The mean sleep latency (MSL) for five naps was 1.3 minutes. Sleep-onset rapid eye movement (REM) periods (SOREMPs) were present in all five nap periods. HLA-typing and a CSF hypocretin level testing were not performed. Modafinil 300mg was prescribed, which improved her quality of life. CONCLUSION: In developing countries where diagnostic studies are not available, practitioners should pay special attention to a detailed history and look for classic symptoms of narcolepsy to establish an early diagnosis and improve quality of life.
International Journal of Nursing Education and Research · 2021 · 0 citations
Gilbert Syndrome
AbstractGilbert's syndrome (GS) is a benign condition that does not progress to chronic liver disease or fibrosis. GS diagnosis should be considered in patients with chronic elevation of unconjugated bilirubin. In these patients the presence of hemolysis and other diseases of the liver should be excluded.
Academia Journal of Medicine · 2024 · 0 citations · open access
Management of a Maxillary Radicular Cyst in a Patient with Gilbert Syndrome: A Rare Case Report
AbstractGilbert syndrome is a rare benign autosomal genetic disorder characterized by reduced activity of glucuronyl transferase, leading to decreased clearance of bilirubin and occasional mild jaundice in the absence of hepatic injury or hemolysis. Diagnosis involves clinical and laboratory investigations as part of differential diagnosis, with genetic analysis providing additional confirmation. Oral manifestations of Gilbert syndrome exist but often go unnoticed. Drugs metabolized by this enzyme need to be considered along with stress management in patients undergoing surgical procedures. This case report of a 24-year-old male diagnosed with a radicular cyst in the maxillary anterior teeth region, who incidentally exhibited Gilbert syndrome, also highlights perioperative management considerations for such patients.
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.
