DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for reticular dysgenesis — 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 moduleReticular dysgenesis 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 reticular dysgenesis 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
adenylate kinase 2 (AK2) — AK2 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 adenosinedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2C9Y · 2.1 Å · ligand BIS(ADENOSINE)-5'-TETRAPHOSPHATE (B4P). Experimental structure, not a prediction.
What the evidence adds up to
Reticular dysgenesis is a rare form of severe combined immunodeficiency defined by the combination of SCID with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2), a mitochondrial intermembrane space enzyme, have been identified as the molecular cause. The condition is characterised by a lack of circulating T lymphocytes, severe congenital neutropenia, and sensorineural deafness. One 2009 paper describes reticular dysgenesis (aleukocytosis) as caused by mutations in mitochondrial adenylate kinase 2, and a second 2009 paper confirms that human adenylate kinase 2 deficiency produces a profound hematopoietic defect with sensorineural deafness.
Treatment consists of bone marrow transplantation. No drug therapy is described in any of the provided abstracts. No clinical trial data, response rates, or survival numbers are reported. The abstracts are reviews or molecular characterisation studies, not interventional trials.
What is still missing is any evidence for a drug that could treat reticular dysgenesis. No small molecule, gene therapy, or pharmacological intervention has been tested in patients in these reports. The field lacks a funded clinical trial of any drug, and no patient stratification strategy beyond the known AK2 mutation has been proposed for a drug study.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Haematology · 2017 · 30 citations · open access
Recent advances in understanding the pathogenesis and management of reticular dysgenesis
AbstractReticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.
The Journal of Experimental Medicine · 2015 · 1 citations · open access
Relieving oxidative stress in immune cells
Abstract![Figure][1]
Insight from Kamil Kranc (left) and Elaine Dzierzak (right)
Reticular dysgenesis (RD) is the most severe form of human severe combined immunodeficiency (SCID). It is associated with mutations in adenylate kinase 2 (AK2), the mitochondrial intermembrane space enzyme that
Mathews Journal of Immunology & Allergy · 2021 · 0 citations · open access
Reticular Dysgenesis: Fiction or Reality in Morocco
AbstractSevere combined immune deficits (SCID) are a group of rare yet the severest forms of primitive immune deficits. Reticular dysgenesis (RD) is a rare form of SCID characterized by lack of circulating T lymphocytes, severe congenital neutropenia, and sensorineural deafness. Mutations of the gene coding for adenylate kinase2 (AK2) have been identified as the molecular basis, and treatment consists in bone marrow transplantation.
A Controlled SCID: Bringing Reticular Dysgenesis to a Halt
AbstractReticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 Pannicke et al. (2009) Nature Genetics 41: 101–105 Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness Lagresle‐Peyrou et al. (2009) Nature Genetics 41: 106‐111
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.
