DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Turner syndrome — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleTurner syndrome maps to a 4-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 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.
Molecular view
progesterone receptor (PGR) — PGR 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 14beta,17alphadrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1SQN · 1.451 Å · ligand (14beta,17alpha)-17-ethynyl-17-hydroxyestr-4-en-3-one (NDR). Experimental structure, not a prediction.
What the evidence adds up to
The 2000 international workshop produced updated recommendations for the diagnosis and management of Turner syndrome, covering genetics, diagnosis, and practical treatment guidelines. A 2024 paper notes that clinical diagnosis of Turner syndrome is often delayed, especially in patients with mosaic karyotypes, and that this delay can hinder age-appropriate treatments and lead to adverse health outcomes. The same paper states that the focus of clinical diagnosis and treatment is gradually expanding to include cardiovascular health, fertility, and transitional care.
A 2015 systematic review of 17 selected studies on genetic polymorphisms in Turner syndrome found that the polymorphisms investigated were associated with growth deficit causing short stature, low bone mineral density, autoimmunity, and cardiac abnormalities. The review also confirmed a role for single nucleotide polymorphisms in the etiology of Turner syndrome, specifically in chromosomal nondisjunction. However, the authors note that there are few published studies and that findings are contradictory, so further research in different populations is needed to clarify the role of these genetic variants.
A 2022 review proposes that a prolonged cell cycle is the underlying pathogenetic mechanism of Turner syndrome. It states that the assumption that X chromosome-linked gene haploinsufficiency causes the phenotype is questioned because such genes have not been identified. The review argues that 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis, and that a convergence of data indicates an association between a prolonged cell cycle and the phenotypical features of Turner syndrome. The authors conclude that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development.
No drug treatment for Turner syndrome is mentioned in any of these abstracts. What is still missing is a confirmed molecular mechanism linking the chromosomal abnormality to the clinical features, a validated set of genetic markers for risk stratification, and prospective trials that test whether earlier diagnosis and targeted management of cardiovascular, metabolic, and fertility issues improve long-term outcomes.
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 Journal of Clinical Endocrinology & Metabolism · 2001 · 354 citations · open access
Recommendations for the Diagnosis and Management of Turner Syndrome<sup>1</sup>
AbstractComprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.
Current Opinion in Neurology · 2012 · 54 citations
Turner syndrome
AbstractPURPOSE OF REVIEW: Turner syndrome, which results from the complete or partial loss of a sex chromosome, is associated with a particular pattern of cognitive impairments and strengths and an increased risk for specific neurodevelopmental disorders. This review highlights recent progress in understanding brain structure and function in Turner syndrome and identifies several critical research needs. RECENT FINDINGS: Recent work on social cognition in Turner syndrome has identified a range of difficulties despite a maintained social appetite, a disconnect which could result in distress for affected individuals. Progress has been made in identifying foundational deficits in attention and executive function that could explain visual-spatial and arithmetical impairments. Neuroimaging studies have advanced our understanding of brain development and function through the application of cutting edge analysis techniques. Haploinsufficiency of genes, failure to express parentally imprinted genes, uncovering of X chromosome mutations, and gonadal steroid deficiency may all contribute to altered brain development, but additional work is required to link specific mechanisms to specific phenotypes. Also needed are studies of interventions to assist individuals with Turner syndrome in visual-spatial, mathematical, and social skills. SUMMARY: Ultimately a better understanding of brain structure and function in Turner syndrome will generate new therapeutic approaches for this population.
Revista Paulista de Pediatria · 2015 · 22 citations · open access
Síndrome de Turner e polimorfismo genético: uma revisão sistemática
AbstractApresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico. Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura. Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs) na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica. Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico. To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome.
Journal of Developmental Biology · 2022 · 8 citations · open access
The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome
AbstractTurner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death, and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.
[Reflections on the clinical diagnosis and management of Turner syndrome].
AbstractThere is a delay in the clinical diagnosis of Turner syndrome (TS), particularly for patients with mosaic karyotypes. This diagnostic delay can hinder age-appropriate treatments and lead to adverse health outcomes. Therefore, it is necessary to explore improvement measures for early diagnosis and treatment plans based on the current clinical situation. Furthermore, as research progresses, the focus of clinical diagnosis and treatment of TS is gradually expanding to multiple aspects, including cardiovascular health, fertility, and transitional care, in order to improve the prognosis and quality of life of the patients. This paper discusses the current clinical status and management key points of TS diagnosis and treatment, aiming to provide insights for improving the management of TS.
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.
