A5037173751- Epigenetics and DNA Methylation
- Health, Environment, Cognitive Aging
- Cervical Cancer and HPV Research
- Endometrial and Cervical Cancer Treatments
- Diet and metabolism studies
- Genetics, Aging, and Longevity in Model Organisms
- Cancer-related molecular mechanisms research
- Ovarian cancer diagnosis and treatment
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Neuroinflammation and Neurodegeneration Mechanisms
- Estrogen and related hormone effects
- Reproductive Biology and Fertility
- Gut microbiota and health
- BRCA gene mutations in cancer
- Urological Disorders and Treatments
- Dietary Effects on Health
- Molecular Biology Techniques and Applications
- Neurological Disease Mechanisms and Treatments
- Uterine Myomas and Treatments
- Genetic Associations and Epidemiology
- Genetic Syndromes and Imprinting
- Biosimilars and Bioanalytical Methods
- Health and Medical Studies
- Zebrafish Biomedical Research Applications
Universität Innsbruck
2022-2025
University College London
2025
Tirol Kliniken
2024
University of Edinburgh
2019-2020
Cervical cancer (CC) screening in women comprises human papillomavirus (HPV) testing followed by cytology triage of positive cases. Drawbacks, including cytology's low reproducibility and requirement for short intervals, raise the need alternative methods. Here we used an innovative technique, WID-qCIN test, to assess DNA methylation genes DPP6, RALYL GSX1 a real-life cohort 28,017 aged ≥30 years who attended CC Stockholm between January March 2017. In analysis all 2,377 HPV-positive...
Abstract Tobacco use is a major modifiable risk factor for adverse health outcomes, including cancer, and elicits profound epigenetic changes thought to be associated with long-term cancer risk. While electronic cigarettes (e-cigarettes) have been advocated as harm reduction alternatives tobacco products, recent studies revealed potential detrimental effects, highlighting the urgent need further research into molecular impacts of e-cigarettes. Here, we applied computational deconvolution...
ABSTRACT Moderate or severe traumatic brain injury (TBI) causes widespread neuronal cell death. Microglia, the resident macrophages of brain, react to by migrating lesion site, where they phagocytose cellular debris. Microglial phagocytosis can have both beneficial (e.g. debris clearance) and detrimental respiratory burst, phagoptosis) consequences. Hence, whether overall effect microglial after in vivo is neuroprotective neurotoxic not known. Here, we establish a system with which carry out...
The vast majority of epithelial ovarian cancer arises from tissues that are embryologically derived the Müllerian Duct. Here, we demonstrate a DNA methylation signature in easy-to-access Duct-derived cervical cells women with and without (i.e. referred to as Women's risk IDentification for Ovarian Cancer index or WID-OC-index) is capable identifying an absence tumour AUC 0.76 endometrial 0.81. This observation cell WID-OC-index mimics epigenetic program those at becoming cancerous BRCA1/2...
Endometrial cancer (EC) incidence has been rising over the past 10 years. Delays in diagnosis reduce survival and necessitate more aggressive treatment. We aimed to develop validate a simple, noninvasive, reliable triage test for EC number of invasive diagnostic procedures improve patient survival.We developed screen women with suspected using 726 cervical smear samples from without EC, validated 562 cervicovaginal three different collection methods (cervical smear: n = 248; vaginal swab:...
Abstract Genetic and non-genetic factors contribute to breast cancer development. An epigenome-based signature capturing these components in easily accessible samples could identify women at risk. Here, we analyse the DNA methylome 2,818 cervical, 357 227 matched buccal blood respectively, 42 tissue from with without cancer. Utilising cervical liquid-based cytology samples, develop methylation-based Women’s risk IDentification for Breast Cancer index (WID-BC-index) that identifies an AUROC...
Abstract Recent epigenome-wide studies have identified a large number of genomic regions that consistently exhibit changes in their methylation status with aging across diverse populations, but the functional consequences these are largely unknown. On other hand, transcriptomic more easily interpreted than epigenetic alterations, previously age-related gene expression shown limited replicability populations. Here, we develop an approach leverages high-resolution multi-omic data for...
Abstract Background Breast cancer is a leading cause of death in premenopausal women. Progesterone drives expansion luminal progenitor cells, to the development poor-prognostic breast cancers. However, it not known if antagonising progesterone can prevent cancers humans. We suggest that targeting signalling could be means reducing features which are promote formation. Methods In healthy women with and without BRCA mutation we studied (i) estrogen levels saliva over an entire menstrual cycle...
Abstract Aging biomarkers are essential for understanding and quantifying the aging process developing targeted longevity interventions. However, validation of these tools has been hindered by lack standardized approaches cross-population validation, disparate biomarker designs, inconsistencies in dataset structures. To address challenges, we developed Biolearn, an open-source library that provides a unified framework curation, harmonization, systematic evaluation biomarkers. Leveraging...
BackgroundTo detect uterine cancer, simpler and more specific index tests are needed to triage women with abnormal bleeding a reference histology test. We aimed compare the performance of conventional imaging novel WID-qEC DNA methylation test in terms detecting presence or absence cancers bleeding.MethodsEPI-SURE was prospective, observational study that invited all aged 45 years older attending tertiary gynaecological diagnostic referral centre at University College London Hospital...
Aging is a key risk factor for many diseases, including cancer, and better understanding of its underlying molecular mechanisms may help to prevent, delay, or treat age-related pathologies. Epigenetic alterations such as DNA methylation (DNAme) changes are hallmark aging form the basis so-called epigenetic clocks, yet their functional relevance directionality in different organs during disease development often unclear. Here, we link cell-specific DNAme with three hallmarks cancer...
Abstract Endometrial cancer (EC) is the most prevalent gynaecological in high‐income countries and its incidence continuing to rise sharply. Simple objective tools reliably detect women with EC are urgently needed. We recently developed validated DNA methylation (DNAme)‐based women's risk identification—quantitative polymerase chain reaction test for endometrial (WID‐qEC) that could address this need. Here, we demonstrate stability of WID‐qEC remains consistent regardless of: (i)...
Abstract Background Cervical screening is transitioning from primary cytology to human papillomavirus (HPV) testing. HPV testing highly sensitive but there currently no high-specificity triage method for colposcopy referral detect cervical intraepithelial neoplasia grade 3 or above (CIN3+) in women positive high-risk (hr) subtypes. An objective, automatable test that could accurately perform triage, independently of sample heterogeneity and age, urgently required. Methods We analyzed DNA...
Abstract Open scientific competitions have successfully driven biomedical advances but remain underutilized in aging research, where biological complexity and heterogeneity require methodological innovations. Here, we present the results from Phase I of Biomarkers Aging Challenge, an open competition designed to drive innovation biomarker development validation. The challenge leverages a unique DNA methylation dataset outcomes 500 individuals, aged 18 99. Participants are asked develop novel...
Abstract Background A variety of epigenetic clocks utilizing DNA methylation changes have been developed; these are either tissue-independent or designed to predict chronological age based on blood saliva samples. Whether discordant tick rates between tissue-specific and general play a role in health disease has not yet explored. Results Here we analyze 1941 cervical cytology samples, which contain mixture hormone-sensitive epithelial cells immune cells, develop the WID clock (Women’s...
The majority of endometrial and cervical cancers present with abnormal vaginal bleeding but only a small proportion women suffering from actually have such cancer. A simple, operator-independent accurate test to correctly identify presenting as consequence or cancer is urgently required. We recently developed validated the WID-qEC test, which assesses DNA methylation ZSCAN12 GYPC via real-time PCR, triage symptoms suggestive using ThinPrep-based liquid cytology samples. Here, we investigated...
The incidence of endometrial cancer is rising. Measures to identify women at risk and detect earlier are required reduce the morbidity triggered by aggressive treatment for advanced cancer. We developed WID-EC (Women's IDentification-Endometrial Cancer) test, which based on DNA methylation 500 CpG sites, in a discovery set cervical liquid-based cytology samples from 1086 with without an (217 cases 869 healthy controls) worse prognosis (grade 3 or ≥stage IB). validated test independent...
Abstract Background Cervical screening using primary human papilloma virus (HPV) testing and cytology is being implemented in several countries. Cytology as triage for colposcopy referral suffers from shortcomings. HPV overcomes some of these but lacks specificity women under 30. Here, we aimed to develop validate an automatable test that highly sensitive specific independently age sample heterogeneity, predicts progression CIN3+ HPV+ patients. Results The WID™-qCIN, assessing three regions...