Description
Genomic analysis has provided research opportunities, new approaches to therapeutic development, health care and public health management. These advances allows the assessment of the predisposition to certain diseases which implies more informed clinical management and lifestyle changes.
Understanding genetic predisposition to disease and knowledge of lifestyle modifications that change the potential for a disease is necessary to make informed choices. This multidisciplinary line promotes and disseminates fundamental, translational and clinical scientific research having as main vectors the interaction environment-genome in developmental disorders, aging-related chronic diseases, and cancer.
We aim to understand the impact of genetic/epigenetic factors and environmental/microenvironment exposures on health and on the susceptibility and course of disease. An important focus is to study genotypes, transcripts, methylation markers, proteins and metabolites together with environmental risk factors and clinical information as powerful tools to understand the human variability and networks underlying diseases. This multidisciplinary approach includes study of human genome variability, identification of new biomarkers, essential for disease risk and outcome prediction, and to identify new therapeutic targets translating into clinical research.
Integrated Members
Francisco Caramelo is an assistant professor at the Faculty of Medicine of the University of Coimbra (FMUC), teaching several subjects, notably biophysics and biostatistics in pre and postgraduate courses.
His area of expertise is physics and statistics applied to the health sciences.
The main area of research has been the development of statistical methods, essentially based on machine learning techniques, to solve complex problems in medicine, particularly in genomics and nuclear imaging. He is a member of the Laboratory of Biostatistics and Medical Informatics (FMUC) and an integrated member of the Center for Innovative Biomedicine and Biotechnology (CIBB-iCBR).
He also collaborates with the Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT-ICNAS).
The results of his research translate into numerous publications, patents and the coordination of various projects.
Main research area: statistics, image processing, machine learning
Henriqueta Coimbra Silva is a specialist in Gynaecology and Obstetrician and has a PhD in Genetics.
She teaches human and medical genetics for bachelor, master and PhD students. She is also responsible for the Laboratory of de “Sequencing and Functional Genomics” from de Faculty of Medicine of the University, a certified lab included in the national genomic platform,UCGenomics/GenomePT.
The lab has two platforms of Next Generation Sequencing of medium throughput, enabling genotyping, target DNA sequencing, target RNA seq, liquid biopsy and metagenomics studies.
Her main research areas include oncogenetics, multifactorial phenotypes and pharmacogenetics, with the perspective of precision medicine.
Professor at the Faculty of Medicine of University of Coimbra, has a degree in Genetics and Biotechnology, a Master in Molecular Genetics and a PhD in the field of Head and Neck Squamous Cell Carcinoma.
My teaching experience encompasses undergraduate and graduate courses and the scientific supervision of master and PhD students.
My research interests focus on the molecular characterization of cancer, in order to identify prognosis and diagnosis biomarkers. I have dedicated much of my time studying copy number alterations and methylation status of genes involved in carcinogenesis, especially in head and neck cancer.
I have been published several original scientific articles and book chapters. In my published work I have identified specific molecular signatures and potential biomarkers related to specific cancer types.
Main Research Area – oncobiology, cytogenomic and human genetic
PhD in Human Genetics from the Faculty of Medicine of the University of Witwatersrand and equivalence from the Faculty of Medicine of the University of Coimbra (FMUC), Master in Genetics and Degree in Biological Sciences - Major in Genetics from the University of Witwatersrand. Full Professor at FMUC, lecturer in several curricular units within the scope of Cellular and Molecular Biology, Cytogenetics and Genomics and Clinical Laboratory Genetics. Co-coordinator of the Master in Clinical Laboratory Genetics at FMUC.
Specialist in Clinical Laboratory Genetics by the European Board of Medical Genetics (EBMG) and by ACSS – Ministry of Health. Vice-President of the Clinical Laboratory Geneticists branch of the EBMG and member of the EuroGentest of the ESHG (European Society of Human Genetics) the quality sub-committee for laboratories.
Has published more than 130 peer-reviewed scientific articles and more than two hundred publications in the proceedings of indexed journals. Has supervised and continues to supervise several doctoral theses (10) and more than 100 master's theses, as well as research grants. Her field of scientific interest is in the context of cytogenetics and genomics, namely in the area of neurodevelopmental diseases and oncological diseases.
Main Research Area - Copy number variations in neurodevelopmental diseases; Human genome variation and its impact on disease, Genomic changes in cancer; Integration of omic data and its correlation with disease.
She graduated in Dentistry from the Faculty of Dentistry of Lisbon in 1989 and completed her PhD in Dentistry/Periodontology at the Faculty of Medicine of Coimbra in 2006.
She got the title of Specialist in Periodontology from the Portuguese Dental Association (2018).
She's Assistant Professor of Periodontology of the Faculty of Medicine of the University of Coimbra, Portugal, where she is the Director of the Institute of Periodontology.
Is an integrated member at the Center for Research in the Environment, Genetics and Oncobiology (Cimago), collaborating with the group Human Genome Variation in Health and Disease, and at the Center for Innovation and Research in Oral Sciences (CIROS), both from the Faculty of Medicine.
Additionally, she's a member collaborator of the Center for Functional Ecology – Science for people of the planet, at the group Forensic Anthropology and Paleobiology, from the Faculty of Sciences and Technology, all at the University of Coimbra.
Main Research Area: periodontology (periodontal medicine, periodontal regeneration, peri-implantitis) and oral cancer.
PhD in Biomedical Sciences at the Faculty of Medicine of the University of Coimbra (FMUC), Master in Cellular and Molecular Biology at the Faculty of Science and Technology of the University of Coimbra (FCTUC) and Degree in Pharmaceutical Sciences at the Faculty of Pharmacy of the University of Coimbra (FFUC). Associate Professor (with “Agregação) at FMUC in several course units in the field of Cellular and Molecular Biology; Cytogenetics and Genomics and Clinical Genetics Laboratory. Specialist in Clinical Laboratory Genetics by the European Board of Medical Genetics and by ACSS - Ministry of Health.
More than 80 peer-reviewed scientific articles published and more than one hundred publications in indexed journal proceedings. Several doctoral and master's theses, as well as research grants, have been supervised and are being supervised. Its domain of scientific interest is in the scope of cytogenetics and genomics, namely in the area of neurodevelopmental diseases and oncological diseases.
Main Research Area –Copy number variants in neurodevelopmental disorders; Human genome variation and its impact in disease; Genomic alterations in cancer; Integration of omics data and correlation with disease.
João Mendes completed the Doctoral Program in Health Sciences in 2022 at the Faculty of Medicine of Coimbra University.
He concluded his Master´s degree in Biochemistry in 2008 at the University of Beira Interior and his degree in Biochemistry in 2006 at the University of Beira Interior.
João Mendes has been an Invited Assistant at the Faculty of Medicine of Coimbra University since 2020. He teaches the practical course unit of Genetics in the first year of the integrated Master's degree in Dental Medicine. He teaches the practical course unit on Genetics in the course of Medicinal Chemistry. He collaborates in the teaching of the discipline Biological Basis of Behavior in the course of Psychology.
In this field, he had the opportunity to work in diverse research areas namely in accelerating the diagnosis of genetic diseases, including whole-exome analysis; he worked with liquid biopsies and NGS panels, as well as, metagenomic analysis.
His main research interests are the discipline of Genetics and Immunogenetics.
Degree in Dental Medicine in 1995 and MSD in Experimental Pathology in 2000, from the Faculty of Medicine, University of Coimbra - Portugal.
In 2001 he received a scholarship from the Calouste Gulbenkian Foundation to perform an internship at the Department of Endodontics, Faculty of Dentistry, University of Toronto – Canada.
In 2008 earned his PhD in Dentistry, specialty of Operative Dentistry and Endodontics with Summa Cum Laude.
Certified Member of the European Society of Endodontology in 2004, International Member of the American Association of Endodontists and Member of the International Association of Dental Traumatology.
Professor of Endodontics at the University of Coimbra (Pre-Grad and Post-Grad), ERASMUS Departmental coordinator for Dentistry and Vice-President of the Portuguese Society of Endodontology.
Main research interests in the field of Dental biomaterials, Pulp biology, Pulp regeneration, Vital Pulp Therapy and Outcome of endodontic treatment.
He published 33 original scientific articles in ISI journals and 2 book chapters.
Member of the Editorial board of Medicina and Scientific Advisory Board of Journal of Endodontics and Polymers.
Supervised 3 doctoral theses and 29 master’s dissertations.
Main Research Area - dental biomaterials, pulp biology, pulp regeneration, vital pulp therapy, outcome of endodontic treatment.
National Collaborators
Henrique Girão (HG) is Principal Investigator at the Faculty of Medicine of University of Coimbra (FMUC), where he is Deputy Director for Research and Development, Co-chair of the Cardiovascular Area, Leader of the Group "Ubiquitin-dependent Proteolysis and Intercellular Communication" and Director of the Microscopy and Bioimaging Lab .
Director of the Coimbra Institute for Clinical and Biomedical Research (iCBR) and also coordinates the PhD program in Health Sciences and the Master Course of Biomedical Research.
Published 95 papers in peer-reviewed journals, including EMBO Rep, Circulation Res, Basic Res Cardiology, Cardiovasc Res, Life Sci Alliance, JAAC, FASEB J, J Cell Sci, Trends Cell Biol, Trends Mol Med, Trends Microbiology, Autophagy, Molec Cell Proteomics, and J Extracel Vesicles, and has served as editor in Scientific Reports, Revista Portuguesa de Cardiologia, Frontiers in Physiology, Int J Molec Sci and J Extracel Vesicles.
Has coordinated 6 Research grants and participated in other 5 funded by FCT and EU, securing > 1,5 M€.
Launched and heads the FMUC Health Communication Office, aiming to promote scientific culture and literacy in the society.
Specialized in cellular and molecular mechanisms involved in the regulation of protein degradation and intercellular communication, necessary for the maintenance of cell homeostasis. In particular, HG has been interested in understanding how disturbance of proteolysis, namely non-canonical functions of ubiquitin in signaling lysosomal degradation, and intercellular communication, mediated by gap junctions and exosomes, contribute to cardiovascular disorders.
In the last 5 years has supervised 16 PhD Thesis, 30 Master Thesis and 7 Posdocs; has been Jury in 18 PhD Defense, as main opponent, and more than 30 Master Defense.
Main Research Areas: molecular mechanisms of cardiovascular diseses, cardio-oncology, intercellular communication, extracellular vesicles, autophagy
International Collaborators
PhD Students
Master's in Medicine from the Faculty of Medicine at the University of Porto.
PhD Student in Health Sciences since 2017 at the University of Coimbra. Guest Lecturer of Surgical Propaedeutics and General Surgery ( Clinical Clerkship) in the pre-graduated Master Integrated Medical School - Faculty of Medicine of University of Coimbra.
She participated in 3 original articles and over 30 abstracts published in ISI and non-indexated journals, and also presented in several National and International Scientific Meetings.
Co-supervised 2 integrated master's dissertations.
Main Research Area - Colorectal Cancer, Liquid Biopsy, General Surgery, Oncology, Genetics
Degree in Medicine, Faculty of Medicine University of Coimbra (FMUC) (2003), Post-Graduate Course in Sports Medicine (FMUC) (2006), student of the PhD in Health Sciences (FMUC), Invited Assistant of Surgical Pathology (4th year Master in Medicine FMUC). General Surgeon Specialist in Centro Hospitalar e Universitário de Coimbra (CHUC) (ended 2012), Consultant General Surgeon (2021), has his main clinical activity in Upper GI and Obesity Surgery Units of the General Surgery Department at CHUC.
Author/co-author of over 60 presentations in congresses.
Author and co-author of 15 published papers, 6 published abstracts and 1 book chapter.
Supervisor/co-supervisor of 10 dissertations - Master in Medicine students at FMUC.
Member of Jury of 3 dissertations - Master in Medicine students at FMUC.
3 Awards in Congresses: Best Poster(2) and Best Oral Presentation.
Chair/Moderator in several congress sessions.
Local Principal Investigator of 3 international multicentric studies (CovidSurg, CovidCancer, Geneva Audit)
Reviewer: Obesity Surgery, Journal of Molecular Endocrinology, Journal of Endocrinology, British Medical Journal Case Reports e Revista Portuguesa de Cirurgia.
Member: Sociedade Portuguesa de Cirurgia, Sociedade Portuguesa de Cirurgia de Obesidade, Sociedade Portuguesa de Cirurgia Minimamente Invasiva, European Society of Clinical Investigation, International Federation for the Study of Obesity.
Main research areas: obesity and metabolic surgery, metabolic syndrome, diabetes, adipose tissue, oesophageal cancer, gastric cancer, functional disorders of the oesophagus.
Degree in Dentistry from the Faculty of Medicine at the University of Coimbra.
PhD student since 2014 at the University of Coimbra where she is an Assistent of Periodontology and Oral Medicine.
She teaches Periodontology and Oral Medicine in the pre-gratuated Master Integrated Dentistry School - Faculty of Medicine University of Coimbra.
She published 2 original scientific articles in ISI journals and presented several posters and oral communications in national and international conferences.
Co-supervised 7 master's dissertations.
Degree in Dental Medicine from the Faculty of Medicine at the University of Coimbra in 2003.
Master's degree in Medicine from the Faculty of Medicine at the University of Lisbon in 2009.
Medical Radiation Oncology expert since 2012.
PhD Student in the Faculty of Medicine at the University of Coimbra.
Main Research Area – Radiation Oncology, Oncology, Central Nervous System
Masters in Medicine from the Faculty of Medicine at the University of Coimbra in 2015.
Teaching assistant (at 10%) of "Introduction to Practical Medicine III" at the Coimbra Faculty of Medicine since 2017.
Started his PhD in Health Sciences with the Faculty of Medicine at the Coimbra University in 2019.
Became a Nephrology specialist in 2022.
Has published a total of 14 articles in international, indexed journals (8 of them as the first author).
Has participated in countless scientific meetings and presented over 50 projects as posters and oral communications.
Main research areas: chronic kidney disease, kidney disease genetics, hemodialysis, kidney transplantation
Degree in Medicine from the Faculty of Medicine at the University of Lisbon in 2002. From 2005 to 2010 completed his training in Dermatology at the Dermatology Department of the University Hospital of Coimbra, Portugal, where he later became Consultant Dermatologist.
From 2010 to 2012, was appointed Clinical Fellow in Dermatopathology at the Dermatopathology Department of the St. John’s Institute of Dermatology, London.
He is currently responsible for the Dermatopathology Unit in the Dermatology Department of Coimbra Hospital and University Centre.
He teaches Dermatology to undergraduate students at the Faculty of Medicine of the University of Coimbra.
Published 130 papers as author or co-author in indexed journals, mainly in the field of clinical Dermatology, cutaneous Oncology and Dermatopathology.
Supervised 8 Master’s dissertations.
He is currently the secretary of the Portuguese Group of Dermatopathology Sá Penella and a member of the Portuguese Society of Dermatology and Venereology, of the European Academy of Dermatology and Venereology, of the International Society of Dermatopathology and a Diplomate Member of the Royal College of Pathologists.
Main research area – dermatopathology, cutaneous oncology.
Integrated Master’s Degree in Medicine from the Faculty of Medicine at the University of Coimbra. PhD student in Health Sciences in the Faculty of Medicine of the University of Coimbra, starting in 2016, on Pharmacoresistant epilepsy associated to focal cortical dysplasia: genomic and epigenetic analysis. Neurology and Clinical Neurophysiology Specialist, currently working at Leiria Hospital Center. Published 22 original scientific articles and collaborated in 3 book chapters.
Main Research Areas: Epilepsy genomics and epigenetics, Neurosciences
Degree in Medicine From the Faculty of Medicine at the Coimbra University.
Maxillofacial Surgeon at CHUC.
Assistant teacher of Surgery, Anesthesiology and Reanimation of de Dental Medicine Degree, as lectured the Medical Students on Oral Cancer and Facial Trauma.
Is a Doctoral Student, with a researched Project on "Oral cancer: genomic profile and circulating tumor DNA in diagnosis and follow-up".
Published around 23 papers, as author an co-author, on Head and Neck Cancer and Maxillofacial Surgery.
Main Areas of interest: head and neck cancer
Master in Medicine from the Faculty of Medicine at the University of Coimbra (FMUC) in 2018. During the academic years received 2 scholarships for abroad studies and clinical internships. Medical oncology resident since 2020 at the Portuguese Institute of Oncology of Coimbra. PhD student at the Doctoral Programme in Health Sciences of the FMUC. Participates in several clinical trials and clinical research projects. Has several original publications such as posters, abstracts, book chapters, and journal articles. Contributes to pre-graduated formation as co-supervisor of master's dissertations on the subject of gynecologic malignancies.
Main Research Area - Oncology