DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hyaline body myopathy — 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 moduleHyaline body myopathy 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 hyaline body myopathy 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
myosin heavy chain 7 (MYH7) — MYH7 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9TPJ · 3.02 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractHyaline juvenile fibromatosis is a rare genetic disease, which is associated with ANTXR2 gene defect. Almost all organs and systems of the body are affected in this pathology. There are clinical symptoms: joint contracture, hyperpigmentation, skin damage like nodules, which can have different sizes, locations and forms, throughout the body, fibromatosis of the gums, internal organs damages (splenomegaly, hepatomegaly, anomalies of the kidneys and other organs), osteoporosis, increased susceptibility to infectious diseases, mental underdevelopment. In this article we describe clinical case of 6-old patient witht hyaline juvenile fibromatosis. The diagnosis was made on the basis of the clinical picture, additional research methods and the results of molecular genetic testing. The patient underwent a number of surgical interventions, histological examination of the surgical material and symptomatic therapy.
Underline Science Inc. · 2024 · 0 citations · open access
An Ultra-Rare Disease: Infantile Hyaline Fibromatosis Identified Using AI-assisted Whole Genome Sequencing
AbstractInfantile Hyaline Fibromatosis Syndrome (also known as IHFS or Inherited Systemic Hyalinosis or ANTXR2-Related Hyaline Fibromatosis Syndrome) is a genetic condition characterized by deposition of hyaline in the skin, muscle, and viscera. IHFS is inherited in an autosomal recessive manner and characterized by mutations in the ANTXR2 (Anthrax Toxin Receptor 2) gene, resulting in the abnormal deposition of hyaline material in skin and organs. Symptoms can subsequently develop in multiple organ systems including rheumatological (progressive joint contractures), musculoskeletal (severe motor disability), immunological (increased susceptibility to infections), dermatological (thick, rough skin, hyperpigmented macules, nodules, and papules), and gastrointestinal (failure to thrive, nausea, vomiting, protein-losing enteropathy, failure to thrive). Complications from these can result in lifelong debilitation and early death. Per FDA definition, it meets criterion for an ultra-rare condition, affecting fewer than 1 in 1,000,000 births throughout the United States and with fewer than 100 total cases reported worldwide. Here we present the case of a 4-month-old with a complicated medical history including painful extremity contractures, global developmental delay, neck hemangioma, and feeding intolerance who initially presented to our institution for abdominal distension. The multi-systemic, progressively worsening nature of her symptoms prompted consultation to inpatient pediatric genetics. Per their recommendation, rapid whole-genome sequencing (rWGS) was performed through Rady Children’s Hospital Institute for Genomic Medicine® in San Diego with the help of the Fabric GEM artificial intelligence (AI) tool. This revealed a homozygous pathogenic variant c.652T>C; P.Cys218Arg in the ANTXR2 gene consistent with IHFS. This case was significant not only for its extreme rarity, but also its early manifestation of symptoms, wide range of affected body systems, and severity of symptoms, which together present a fascinating diagnostic dilemma for future clinicians that should be taken into consideration. It also highlights the increasing utility of AI-assisted rapid whole-exome sequencing as a diagnostic tool for medically complex patients with hitherto unknown multisystemic hereditary conditions.
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.
