Epigenetics and Human Diseases Group


About the Lab

Epigenetics is known as “science of change” where its underlying mechanisms are responsible to switching genes on and off. Running, eating or even sleeping can promote chemical modifications around certain genes making them active or inactive. Importantly, and contrary to genetic mutations, “epimutations” are reversible and therefore can be very appealing as therapeutic targets. Epigenetic regulation is involved in the development of several diseases like cancer, autoimmune diseases and other chronic diseases.

The overall objectives of the Epigenetics and Human Disease Laboratory are to analyze epigenetic signatures and explore their potential role in aging, multiorgan dysfunction syndromes and cancer development, adding diagnostic and prognostic value in order to help designing therapeutic approaches in an era of personalized medicine. The work is primarily focused on human cancer and sepsis with emphasis on basic research on human tissue and cells with a strong clinical association.

Team Members

Alexandra Binnie, MD, DPhil (Oxon)
Co-Principal Investigator
Henrik Hellquist, MD, PhD, SAPath, FRCPath
Co-Principal Investigator
Ana Marreiros, PhD
Senior Researcher
Vânia Palma Roberto, PhD
Auxiliary Researcher
Joana Apolónio, PhD
Postdoc Researcher
Nádia Silva, PhD
Postdoc Researcher
Hélder Lousada, MV, MD
PhD student
António Paiva, MD
PhD student
Fernanda Parini, MsC
PhD student
Ana Teresa Rajado, MSc
Research Fellow
Sara Ramalhete, MsC

André Mestre, MsC

Daniel Pestana, MsC

Tatiana Lourenço
Master Student

Selected Publications

2021 | Faleiro, I.; Roberto, V.P.; Demirkol Canli, S.; Fraunhoffer, N.A.; Iovanna, J.; Gure, A.O.; Link, W.; Castelo-Branco, P. DNA Methylation of PI3K/AKT Pathway-Related Genes Predicts Outcome in Patients with Pancreatic Cancer: A Comprehensive Bioinformatics-Based Study. Cancers, 13, 6354. 10.3390/cancers13246354

2021 | Fonseca A, Ramalhete SV, Mestre A, Pires das Neves R, Marreiros A, Castelo-Branco P, Roberto VP. Identification of colorectal cancer associated biomarkers: an integrated analysis of miRNA expression. Aging (Albany NY). Sep 21;13(18):21991-22029. doi: 10.18632/aging.203556. Epub 2021 Sep 21. PMID: 34547721; PMCID: PMC8507258.

2021 | REMAP-CAP Investigators etl a. Therapeutic Anticoagulation with Heparin in Critically Ill Patients with Covid-19. N Engl J Med. Aug 26;385(9):777-789. doi: 10.1056/NEJMoa2103417. Epub 2021 Aug 4. PMID: 34351722; PMCID: PMC8362592.

2021 | Skalova A, Leivo I, Hellquist H, Agaimy A, Simpson RHW, Stenman G, Vander Poorten V, Bishop JA, Franchi A, Hernandez-Prera JC, Slouka D, Willems SM, Olsen KD, Ferlito A. High-grade Transformation/Dedifferentiation in Salivary Gland Carcinomas: Occurrence Across Subtypes and Clinical Significance. Adv Anat Pathol. May 1;28(3):107-118. doi: 10.1097/PAP.0000000000000298. PMID: 33825717. 

2020 | Binnie A, Walsh CJ, Hu P, Dwivedi DJ, Fox-Robichaud A, Liaw PC, Tsang JLY, Batt J, Carrasqueiro G, Gupta S, Marshall JC, Castelo-Branco P, Dos Santos CC; Epigenetic Profiling in Severe Sepsis (EPSIS) Study of the Canadian Critical Care Translational Biology Group (CCCTBG). Epigenetic Profiling in Severe Sepsis: A Pilot Study of DNA Methylation Profiles in Critical Illness. Crit Care Med. 2020 Feb;48(2):142-150. doi: 10.1097/CCM.0000000000004097. PMID: 31939781.

2019 | Hellquist H, Paiva-Correia A, Vander Poorten V, Quer M, Hernandez-Prera JC, Andreasen S, Zbären P, Skalova A, Rinaldo A, Ferlito A. Analysis of the Clinical Relevance of Histological Classification of Benign Epithelial Salivary Gland Tumours. Adv Ther. Aug;36(8):1950-1974. doi: 10.1007/s12325-019-01007-3. Epub 2019 Jun 17. PMID: 31209701; PMCID: PMC6822986.

2019 | de Almeida BP, Apolónio JD, Binnie A, Castelo-Branco P. Roadmap of DNA methylation in breast cancer identifies novel prognostic biomarkers. BMC Cancer. Mar 12;19(1):219. doi: 10.1186/s12885-019-5403-0. PMID: 30866861; PMCID: PMC6416975.

2019 | Lee DD, Leão R, Komosa M, Gallo M, Zhang CH, Lipman T, Remke M, Heidari A, Nunes NM, Apolónio JD, Price AJ, De Mello RA, Dias JS, Huntsman D, Hermanns T, Wild PJ, Vanner R, Zadeh G, Karamchandani J, Das S, Taylor MD, Hawkins CE, Wasserman JD, Figueiredo A, Hamilton RJ, Minden MD, Wani K, Diplas B, Yan H, Aldape K, Akbari MR, Danesh A, Pugh TJ, Dirks PB, Castelo-Branco P, Tabori U. DNA hypermethylation within TERT promoter upregulates TERT expression in cancer. J Clin Invest. Jan 2;129(1):223-229. doi: 10.1172/JCI121303. Epub 2018 Dec 3. Erratum in: J Clin Invest. 2019 Apr 1;129(4):1801. PMID: 30358567; PMCID: PMC6307937. 

2018 | Carvalhal S, Tavares A, Santos MB, Mirkovic M, Oliveira RA. A quantitative analysis of cohesin decay in mitotic fidelity. J Cell Biol. Oct 1;217(10):3343-3353. doi: 10.1083/jcb.201801111. Epub 2018 Jul 12. PMID: 30002073; PMCID: PMC6168270. 

2013 | Castelo-Branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Martin D, Merino D, Wasserman JD, Elizabeth C, Alon N, Zhang L, Hovestadt V, Kool M, Jones DT, Zadeh G, Croul S, Hawkins C, Hitzler J, Wang JC, Baruchel S, Dirks PB, Malkin D, Pfister S, Taylor MD, Weksberg R, Tabori U. Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol. May;14(6):534-42. doi: 10.1016/S1470-2045(13)70110-4. Epub 2013 Apr 16. PMID: 23598174.


Project: Algarve Fit Ageing Score: a new integrative tool for quality of life improvement and healthy Ageing
Period of execution: 1/01/2021 – 31/12/2023
Coordinator: Pedro Castelo-Branco
Funding agency: Programa Operacional Regional do Algarve- CRESC Algarve (FEDER)

Project: Drawing an epigenetic landscaping of salivary gland tumours
Coordinator: Henrik Hellquist

Project: Understanding DNA methylation changes and their impact on gene expression in Multiple Organ Dysfunction Syndrome
Coordinator: Alexandra Binnie

Project: Unraveling the contribution of mitotic failure in rare syndromes with microcephaly susceptibility
Period of execution: 1/12/2021 – 01/12/2023
Coordinator: Sara Carvalhal
Funding agency: Maratona da Saúde


2021 | Maratona da Saúde, Portugal, to Sara Carvalhal

2017 | EACR Travel Fellowship Programme, to Joana Apolónio

2016 | Portuguese League Against Cancer-PT Foundation Grant, to Vânia P. Roberto

2015 | Maratona da Saúde, Portugal, to Pedro Castelo-Branco

Funding Agencies

Portugal 2020UE Fundo Europeu de Desenvolvimento Regional

Events to Disseminate

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