DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Aagenaes 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 moduleAagenaes 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 aagenaes 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Pediatrics · 2009 · 2 citations
Recurrent Cellulitis in a Case of Aagenaes Syndrome
AbstractAagenaes syndrome, also called Lymphedema Cholestasis Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities. It is named after the Norwegian pediatrician Oyestein Aagenaes, who described the syndrome in 1968. The presence of lymphedema is likely the predisposing factor for development of recurrent infections in such patients.1 Recurrent cellulitis as such has never been described in the literature with Aagenaes syndrome. This case highlights recurrent cellulitis as one of the potential complications of Aagenaes syndrome.
American Journal of Medical Genetics Part A · 2025 · 0 citations
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome
AbstractAagenaes syndrome, also known as lymphoedema cholestasis syndrome 1 (LCS1), is a rare autosomal recessive disorder characterized by neonatal cholestasis and chronic lymphedema, primarily affecting the lower extremities. The genetic basis for this syndrome was recently linked to a variant in the 5'-untranslated region (5'-UTR) of the UNC45A gene, located on chromosome 15q. This study aimed to identify the genetic mutations associated with Aagenaes syndrome in two siblings and to explore their clinical implications. Whole-exome sequencing (WES) was conducted on two siblings with neonatal cholestasis and lymphedema. WES identified a single base pair change in the 5'-untranslated region (5'-UTR) of the UNC45A gene (c.-88G>A) in both siblings. Additionally, both were heterozygous for an exonic loss-of-function variant (c.1591C>T; p.Arg531Ter) in UNC45A. Clinically, both siblings presented with neonatal cholestasis and lymphedema; however, one sibling developed severe liver failure, requiring a liver transplant. Despite carrying the same variants, the clinical outcomes differed between the two patients. The identification of a novel 5'-UTR variant (c.-88G>A), along with an exonic variant in UNC45A, expands the genetic and clinical understanding of Aagenaes syndrome. This study confirms the involvement of the 5'-UTR region of UNC45A in the disease pathogenesis, while demonstrating that Aagenaes syndrome is not exclusively associated with the previously reported c.-98G>T variant found in Norwegian cases. These findings underscore the importance of genetic screening for accurate diagnosis and management of Aagenaes syndrome and provide new insights into the critical regulatory role of the 5'-UTR in disease development. Further research is needed to elucidate the mechanisms underlying phenotypic variability in this rare disorder. Evaluation of mRNA and protein levels would have been valuable to better understand the functional effects of these variants; however, due to current resource constraints, such studies could not be conducted.
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.
