DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for von Willebrand disease 1 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleVon Willebrand disease 1 maps to a 2-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 von willebrand disease 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
coagulation factor II thrombin receptor (F2R) — F2R 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8XOR · 3.0 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
Von Willebrand disease is the most common inherited coagulation protein disorder in humans, associated with mutations on chromosome 12 in the region p13.2 that encodes von Willebrand factor. The classification has been refined since the 1920s and now includes types 1, 2A, 2B, 2N, 2M, and 3. Molecular biology has characterised the VWF gene and allowed phenotype-genotype studies of subtypes, but as of 2015 there were still no strategies to integrate molecular biology diagnostic tests into routine use. Analysis of VWF multimers meets the requirements for diagnosis but is not easy to standardise. Even in tertiary centres in Mexico, patients did not have a definitive diagnosis.
The disease is highly heterogeneous due to the molecular mechanisms producing different clinical and laboratory phenotypes. Improved classification based on reproducible correlations between specific genetic mutations and recognised phenotypes was expected to aid in determining appropriate management. A Nordic workshop held in 2004 covered aspects from prevalence and classification to treatment and management, but the supplement reporting this meeting did not provide new trial data or quantitative outcomes.
An erratum from 2008 notes that tables from a 2007 review article on diagnosis and treatment were published in advance of the official NHLBI guidelines, which appeared in Haemophilia in 2008. This was an editorial error. No drug, no treatment, no survival or response rate data appear in any of these abstracts. What is still missing is the integration of molecular biology into standard diagnostic workflows, standardisation of multimer analysis, and comprehensive studies that combine clinical, basic, and specialised laboratory testing to establish correct diagnoses and develop new therapeutic approaches.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The evolving classification of von Willebrand disease
AbstractThe classification of von Willebrand disease (VWD) has been refined since its first description in the 1920s, as knowledge regarding clinical symptoms and tests of von Willebrand factor (VWF) activity and multimer composition have increased. Current molecular approaches have allowed better understanding of the biosynthesis and function of VWF, and made possible phenotype-genotype studies of VWD subtypes. Improved classification of this heterogeneous disorder based on reproducible correlations between specific genetic mutations and recognized phenotypes should aid in determining appropriate management of patients with VWD.
Cirugía y Cirujanos · 2015 · 9 citations · open access
Enfermedad de von Willebrand, biología molecular y diagnóstico
AbstractLa enfermedad de von Willebrand es el trastorno hereditario más frecuente de las proteínas de la coagulación en los seres humanos. Existen 3 tipos: 1, 2A, 2B, 2N, 2M, y 3. Está asociada a mutaciones en el cromosoma 12, en la región p13.2, que codifica para el factor de von Willebrand (VWF), el cual se sintetiza en las células endoteliales y megacariocitos. La biología molecular ha permitido la caracterización del gen del VWF, adquiriendo un papel importante en el diagnóstico la enfermedad de von Willebrand así como en la investigación de alteraciones en otros genes, que pueden estar involucrados en la regulación de la síntesis, procesamiento y secreción del VWF. Sin embargo, aún no se han integrado las estrategias de biología molecular entre las pruebas de diagnóstico disponibles. El análisis de los multímeros del VWF es una metodología que cumple con las características para el diagnóstico, pero no es fácil de estandarizar. Tomando en consideración que aún en los centros de tercer nivel en nuestro país los enfermos de von Willebrand no cuentan con un diagnóstico definitivo, es necesario implementar estas metodologías para su estudio y mejorar su diagnóstico. La enfermedad de von Willebrand es heterogénea debido a los mecanismos moleculares que producen los distintos fenotipos clínicos y de laboratorio. En México existen pocos trabajos relacionados con esta enfermedad, por ello es fundamental realizar un estudio integral que incluya aspectos clínicos, pruebas de laboratorio básicas y especiales, para establecer el diagnóstico correcto, desarrollar nuevos enfoques terapéuticos, y así ofrecer atención médica y asesoramiento genético adecuados. Von Willebrand disease is the most common inherited disorder of the coagulation proteins in humans. There are three types: 1, 2A, 2B, 2N, 2M and 3. It is associated with mutations on chromosome 12 in the region p13.2, encoding the von Willebrand factor (VWF), which is synthesized in endothelial cells and megakaryocytes. The VWF gene has been characterised using molecular biology techniques, which have acquired an important role in diagnosis von Willebrand disease, as well as in the investigation of alterations in other genes, which may be involved in regulating the synthesis, processing, and secretion of VWF. However, there are still no strategies to integrate the molecular biology diagnostic tests available. Analysis of VWF multimers is a methodology that meets the characteristics for diagnosis, but it is not easy to standardise. Considering that even in tertiary centres in our country, von Willebrand patients do not have a definitive diagnosis, it is necessary to implement these methodologies to study and improve diagnosis. Von Willebrand disease is highly heterogeneous due to the molecular mechanisms that produce the various clinical and laboratory phenotypes. In Mexico there are few studies related to this disease; therefore it is essential to conduct a comprehensive study including clinical, basic, and special testing laboratory tests, in order to establish a correct diagnosis, develop new therapeutic approaches, and offer the appropriate medical care and genetic counselling.
AbstractThe article entitled ‘Diagnosis and treatment of von Willebrand disease: new perspectives and nuances’, by C. M. Kessler, Haemophilia 2007; 13(Suppl 5): 3–14, included two tables (1 and 2), which were attributed to the National Heart Lung Blood Institute Consensus Statement for the Guidelines for the Treatment and Diagnosis of von Willebrand disease. We regret that these tables were published in advance of the publication of the NHLBI guidelines in Haemophilia 2008; 14: 171–232. The intent was to publish both the guidelines and the supplement concurrently in the same issue; however, because of editorial delays, the coordinated publication did not occur as planned. The editors and publishers apologize for this inadvertent breach of confidentiality of prepublished data and have instituted procedures intended to prevent this from recurring.
Summary of a Nordic Workshop on von Willebrand Disease
AbstractThis supplement is a summary of a Nordic Workshop on von Willebrand disease held in Malmo, Sweden in August 2004. The meeting was a follow-up of the Nordic von Willebrand Symposium, held on Aland in September 1998 and, as such, was arranged by the Nordic von Willebrand group established after this symposium. Speakers from the USA, Germany, England, Denmark, Norway and Sweden covered different aspects of von Willebrand disease (VWD), from prevalence, classification and diagnostic aspects, to treatment and management.
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.
