DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Wilson-Turner 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 moduleWilson-Turner 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 wilson-turner 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.
What the evidence adds up to
Wilson-Turner syndrome is not mentioned in any of the provided abstracts. The abstracts instead describe Wilson disease, an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene on chromosome 13q14.3. More than 200 disease-causing mutations have been described, most occurring in single families, with a few more frequent ones such as H1069Q, 3400delC, and 2299insC in Caucasian patients and R778L in Japanese, Chinese, and Korean patients. No single diagnostic test can exclude or confirm Wilson disease with 100% certainty.
The clinical spectrum of Wilson disease is broad, including hepatic, neurologic, and psychiatric manifestations. One study of 19 liver transplant patients with the hepatic form of Wilson disease (aged 18 to 44, mean 26 years) found that 7 patients (36.8%) had neurologic symptoms after transplant, including epileptic seizures in 2 (10.5%), encephalopathy in 1 (5.2%), tremor in 3 (15.7%), and headache in 1 (5.2%). The authors attributed these long-term neurologic complications to immunosuppressive drugs. Seizures were controlled with levetiracetam; tremor did not require treatment. The review articles emphasise that failure to diagnose and treat Wilson disease results in progressive and irreversible damage, and that lifetime adherence to maintenance treatment with a chelating agent or zinc is vital to prevent recurrence of symptoms.
Treatment options mentioned include zinc and tetrathiomolybdate, described in a 2000 lecture as effective and nontoxic drugs. Zinc is used for maintenance and for presymptomatic, pregnant, and paediatric patients. Tetrathiomolybdate is described as the choice for patients presenting with neurologic disease. The 2019 review notes that if a psychotropic medication is needed, preference should be given to one with low risk for extrapyramidal symptoms and hepatotoxicity. What remains missing from the literature provided is any direct evidence linking these treatments or this disease to Wilson-Turner syndrome, which is a distinct condition. For Wilson disease itself, the abstracts do not provide controlled trial data comparing the long-term outcomes of different chelating agents, nor do they specify how to stratify patients by genotype or initial presentation to optimise therapy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Liver International · 2003 · 926 citations
Diagnosis and phenotypic classification of Wilson disease<sup>1</sup>
AbstractWilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is straightforward, it may be quite difficult in non-neurologic cases. Up to now, no single diagnostic test can exclude or confirm Wilson disease with 100% certainty. In 1993, the gene responsible for Wilson disease was cloned and localized on chromosome 13q14.3 (MIM277900) (1, 2). The Wilson disease gene ATP7B encodes a P-type ATPase. More than 200 disease causing mutations of this gene have been described so far (3). Most of these mutations occur in single families, only a few are more frequent (like H1069Q, 3400delC and 2299insC in Caucasian (4-6) or R778L in Japanese (7), Chinese and Korean patients). Studies of phenotype-genotype relations are hampered by the lack of standard diagnostic criteria and phenotypic classifications. To overcome this problem, a working party discussed these problems in depth at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig/Germany (April 16-18, 2001). After the meeting, a preliminary draft of a consensus report was mailed to all active participants and their comments were incorporated in the final text.
CONTINUUM Lifelong Learning in Neurology · 2016 · 34 citations
Wilson Disease
AbstractPURPOSE OF REVIEW: This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric abnormalities, and addresses the diagnostic workup and treatment approaches to managing the disease. RECENT FINDINGS: The list of known mutations causing Wilson disease continues to grow, but advances in genetic testing may soon make it feasible to routinely perform genetic testing on individuals suspected of having Wilson disease. SUMMARY: Wilson disease is a rare genetic disorder with protean manifestations that should be considered in the differential diagnosis of any individual presenting with unexplained neurologic, psychiatric, or hepatic dysfunction. Appropriate diagnostic testing should be expeditiously performed and treatment promptly initiated and maintained since failure to diagnose and treat Wilson disease will result in progressive and ultimately irreversible damage to the neurologic and other systems.
Expert Review of Neurotherapeutics · 2019 · 28 citations
A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease
AbstractIntroduction: This paper reviews the presenting signs and symptoms of Wilson’s disease, with an emphasis on the recognition and treatment of neuropsychiatric symptoms.Areas covered: A literature search was conducted using PubMed.gov utilizing the following keywords: Wilson disease, neuropsychiatric, psychiatric symptoms, treatment, antipsychotics, mood stabilizer, psychotherapy, antidepressant, ATP7B. The diagnosis of Wilson’s disease and the treatment of hepatic and neuropsychiatric symptoms are reviewed.Expert opinion: Wilson’s disease is a rare autosomal recessive disorder with a heterogeneous presentation. Prominent neuropsychiatric symptoms can cloud the initial diagnosis, delaying treatment. Early disease recognition and prompt treatment to restore copper balance is critical in mitigating neuropsychiatric symptoms. Lifetime adherence to maintenance treatment with a chelating agent or zinc is vital for prevention or recurrence of symptoms. Education and supportive psychotherapy have been shown to improve medication adherence. If a psychotropic medication is needed, preference should be given to one with a low risk for extrapyramidal symptoms and hepatotoxicity.
Complications of Liver Transplant in Adult Patients With the Hepatic Form of Wilson Disease.
AbstractOBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen. These findings can include neurologic and neuropsychiatric complications. Our aim here was to examine the neurologic complications and our clinical experience in patients who underwent liver transplant for Wilson disease in our clinic. MATERIALS AND METHODS: We retrospectively reviewed the medical records of transplant patients with Wilson disease who were seen at Baskent University Faculty of Medicine Transplantation Science between 2005 and 2017. Patient demographics, neurologic complaints, findings from neurologic examinations, and imaging findings were recorded. We also recorded the presence of the Kayser-Fleischer ring, serum ceruloplasmin, 24-hour copper urine levels, and levels of dry copper in liver in each patient. RESULTS: Our study included 19 patients who ranged in age range from 18 to 44 years (mean age of 26 years). Seven of 19 patients (36.8%) had neurologic symptoms, including epileptic seizures in 2 patients (10.5%), encephalopathy in 1 patient (5.2%), tremor in 3 patients (15.7%), and headache in 1 patient (5.2%). The cause of these long-term neurologic complications was the immunosuppressive drugs. Patients with epileptic seizures were provided with seizure control medication (levetiracetam). Tremor did not need treatment. CONCLUSIONS: In Wilson disease, neurologic complications can be severe. The most common complication seen in our patients was tremor. Early diagnosis and treatment may slow down neurologic disability.
Armenian Journal of Health & Medical Sciences · 2021 · 0 citations · open access
Wilson's disease: a case report and brief review of the literature
AbstractWe describe a case of Wilson’s disease in a young male, with classical clinical presentation, who underwent a conventional pharmacological treatment with positive outcome. Also, we present a short discussion of the main aspects of pathophysiology, clinical presentation, and treatment of Wilson’s disease.
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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