Programa Preliminar

Programa Social

Caves Cálem

20:00h – Visita guiada às caves (~ 40’)

21:00h – Jantar na Sala de Experiências


Avenida Diogo Leite, 344

4400-111 Vila Nova de Gaia

O jantar é subsidiado, em parte, pela SPGH.

Guest Speakers

Anita Rauch, MD, PhD
Full Professor of Medical Genetics,
Institute of Medical Genetics
University of Zurich
Schlieren, Switzerland

Anita Rauch is Professor of Medical Genetics at the University of Zurich. In 2009 she was appointed as director of the Institute of Medical Genetics in Zurich and heads the University’s diagnostic genetic laboratory and outpatient clinic. She is a member of the research counsel of the Swiss National Science Foundation, a member of the Leopoldina, and a board member of the Swiss Academy of Medical Sciences as well as of the Swiss Society of Medical Genetics.
Her current research interests are reflected by steering board memberships in the Swiss Personalized Health Network and the Rare Disease Initiative Zurich (radiz). She uses high-throughput sequencing methods to systematically evaluate the genetic landscape of neurodevelopmental disorders, as well as a variety of essays and models including hiPSC-derived neurons to investigate genotype-phenotype correlation.
Her routes are in Germany, where she studied Medicine and performed specialized training in Human Genetics at the Universities of Regensburg and Erlangen-Nürnberg. In her early career she contributed important studies in genotype-phenotype correlation in a variety of chromosomal and microdeletion syndromes, especially concerning the 22q11.2 microdeletion syndrome. Her group also identified the genetic etiology of a variety of rare disorders, amongst others of primordial dwarfism type MOPDII.

David Monk, M.Sc, B.Sc
Principal Investigator, Imprinting and Cancer Group
Cancer Epigenetics and Biology Program (PEBC),
Bellvitge Institute for Biomedical Research (IDIBELL),
Barcelona, Spain.

David Monk obtained his PhD in 2001 from Imperial College London for cytogenetically defining the Chr7 critical region for the imprinting disorder Silver-Russell syndrome. This was followed by several post-doctoral projects characterizing epigenetic regulation in both mouse and humans, including a multicenter MRC funded position at MRC Harwell, Oxford, The Babraham Institute, Cambridge and Institute of Reproductive and Developmental Biology (IRDB), Imperial College London. After completing his final post-doctoral position at the Institute of Child Health (ICH), University College London, Dr Monk moved to the Cancer Epigenetic and Biology Program (PEBC), Bellvitge Institute for Biomedical Research (IDIBELL) in Barcelona where he was awarded a Ramòn y Cajal career development fellowship to establish his own research group. His teams’ research is centered on understanding epigenetic mechanisms relevant to human diseases, focusing on the application of high-throughput genome technologies to analyze genomic imprinting. In particular, his studies have addressed the role of these epigenetically regulated transcripts in imprinting disorders, as well as in common morbidities, including fetal growth, fertility and cancer. Recently, his group has utilized methyl-seq to characterized methylation in human gametes and pre-implantation embryos, resulting in the identification of novel transient imprinted DMRs and high-throughput methylation arrays to study cancer. In addition to his research activities, Dr Monk was involved in the European COST network for Human Congenital Imprinting Disorders (EUCID; 2015-2017), being the coordinator of the Molecular Biology working group. To date he has over 100 publications.

Joana Marques, PhD, B.Sc (Hons)
Assistant Researcher
(FCT Starting Grant Researcher)
Genetics Unit, Department of Pathology,
Faculty of Medicine, University of Porto
Porto, Portugal.

Ever since Dr. Marques graduated in Biology in 2001, she has been pursuing a career in research with a central theme on epigenetics. During her PhD, she focused on the mechanism of genomic imprinting in human spermatogenesis, describing for the first time the occurrence of imprinting errors in patients with defective spermatogenesis (Marques et al., Lancet 2004; Mol Hum Reprod 2008; Fertil Steril 2010; Andrology 2017).
After completing her PhD, in 2009, she moved to the lab of Prof. Wolf Reik at the Babraham Institute in Cambridge, UK, to work on the epigenetic regulation of pluripotency. During her postdoc, she developed a stable and inducible RNAi knockdown system to test the function of TET enzymes in mouse embryonic stem cells (Ficz et al., Nature 2011). She also analysed the expression of the TET family in oocytes, zygotes and early embryonic developmental stages (Wossidlo et al., Nat Commun 2011).
From 2012 to 2016, she worked at the Life and Health Sciences Research Institute (ICVS), University of Minho, focusing on the role of TET enzymes in neural differentiation. In August 2016 she moved back to the Faculty of Medicine of Porto to resume her original field of research, namely the epigenetic regulation of gametogenesis and embryogenesis.

Peter Rugg-Gunn, PhD
Group Leader, Epigenetics Programme
Babraham Institute, Cambridge, UK
Associate Principle Investigator
Wellcome-MRC Cambridge Stem Cell Institute, UK

Peter Rugg-Gunn, Ph.D., is a Group Leader within the Epigenetics Programme at the Babraham Institute in Cambridge, UK. His research interests centre on understanding how the epigenome is established during human development and how this affects cell fate decisions in pluripotent stem cells and in embryos. His current work is focused on the mechanisms of epigenetic programming and reprogramming as human cells transition between pluripotent states.
Peter’s interest in the epigenetic regulation of stem cells was sparked during his Ph.D. with Roger Pedersen at the University of Cambridge. Here, Peter investigated the status of imprinted genes as a means of assessing the epigenetic stability of human embryonic stem cells. Peter subsequently moved to Toronto for his post-doctoral training with Janet Rossant at The Hospital for Sick Children. His research identified lineage-specific epigenetic differences that are established during mouse development. Peter was then awarded a Wellcome Trust Research Career Development Fellowship in 2011, which he undertook at the Babraham Institute. He was awarded tenure in 2017.

Noel de Miranda, PhD
Assistant Professor
Head of the Immunogenomics group
Department of Pathology, Leiden University Medical Center
Leiden, The Netherlands

The Immunogenomics group has been focusing on the design of neo-antigen targeted therapies to trigger immune responses in cancers that are traditionally viewed as non-immunogenic such as mismatch repair-proficient colorectal cancers. This research strongly relies on the application of next-generation sequencing technologies for the characterization of cancer somatic mutations in a personalized setting. Furthermore, we also apply deep immunophenotyping technologies such as imaging and single-cell mass cytometry as well as single-cell RNA sequencing to disentangle the complexity of the cancer immune microenvironment and for the discovery of immune cell subsets with anti-cancer properties.
Noel de Miranda obtained his PhD in colorectal cancer immunity at the Leiden University (The Netherlands). Between 2010 and 2013 he was a postdoctoral fellow at Karolinska Institutet where he applied next-generation sequencing technologies for the characterization of genetic alterations in diffuse large B-cell lymphomas. Since 2015 he is the head of the Immunogenomics group at the department of Pathology of the Leiden University Medical Center. He is recipient of a Fight Colorectal Cancer-Michael’s Mission-AACR fellowship, a VENI award (Dutch Organization for Scientific Research), and a Dutch Cancer Society Young Investigator Award.

Vassiliki Kotoula, M.D., Ph.D
Department of Pathology, School of Medicine, Aristotle University of Thessaloniki (AUTH) &
Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research (HeFCR) /
Hellenic Cooperative Oncology Group (HeCOG) / AUTH
Thessaloniki, Greece

Vassiliki Kotoula (VK) is an associate professor in Pathology specialized in Molecular Pathology. She received her M.D. from AUTH (1982), her Ph.D on experimental pathology and cancer prophylaxis from AUTH (1992). As an M.D., she is a certified Cytopathologist. She was trained in basic research and applied molecular biology and genetics, primarily for tissue research and diagnostics, at the Dept. of Pathology, NCI, NIH, Bethesda, MD (Lab. of Pediatric Pathology, 1995 – 1997). In 1998, she developed a laboratory for tissue molecular diagnostics within the Dept of Pathology, AUTH, which she continues to supervise in performing all major molecular tests on routine histologic material (FFPE) for research and diagnostic (respective certificates for KRAS and EGFR mutation testing since 2010 and 2013) purposes. In 2009, in collaboration with HeFCR and HeCOG, two non-profit organizations in Greece promoting clinical and translational cancer research, she developed and has since supported and scientifically supervised the Laboratory of Molecular Oncology (LMO or MOL), located within the Dept of Pathology, AUTH, where she devoted most of her time and efforts. In 2013, she introduced next generation sequencing with multigene panels on FFPE tissues in MOL. To date, MOL has genotyped and analyzed more than 5000 tumors along with histology and patient data from the repository and databases by HeCOG.
The central idea behind all VK’s efforts is bridging knowledge gaps between pathology, clinical practice, molecular biology and genetics. Her major field of interest is translational cancer research in the context of cancer genetics and genomics for tumor typing in the context of personalized / precision medicine. As a pathologist, she is interested in studying genetic and phenotypic alterations in tumors and microenvironment, including tumor immune infiltrates. In this context, she has designed and conducted numerous studies and developed protocols and assays for the application of molecular methods on FFPE tissues / matched germline, and interpretation of results. At the academic level, in the last 20 years, she has been actively involved instructing issues on molecular pathology and cancer genetics to pathologists and clinicians.
Representative recent relevant publications (PubMed: Kotoula V)
Fountzilas G, Psyrri A, …, Kotoula V. Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe. Int J Cancer. 2018 Jan 1;142(1):66-80. PMID 28857155
Papadopoulou K, Murray S, …, Kotoula V. Genotyping and mRNA profiling reveal actionable molecular targets in biliary tract cancers. Am J Cancer Res. 2018 Jan 1;8(1):2-15. PMID 29416916
Tsakiri K, Kotoula V, …, Fountzilas G. Crizotinib Failure in a TPM4-ALK–Rearranged Inflammatory Myofibroblastic Tumor With an Emerging ALK Kinase Domain Mutation JCO Precision Oncology 2017 :1, 1-7.
Kotoula V, Fostira F, …, Fountzilas G. The fate of BRCA1-related germline mutations in triple-negative breast tumors. Am J Cancer Res. 2017 Jan 1;7(1):98-114. PMID 28123851
Kotoula V, Lakis S, …, Fountzilas G. Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes. PLoS One. 2016 Sep 29;11(9):e0163138. PMID 27685159
Kotoula V, Karavasilis V, …, Fountzilas G. Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes. Breast Cancer Res Treat. 2016 Jul;158(2):307-21. PMID 27369359
Kotoula V, Chatzopoulos K, …, Fountzilas G. Tumors with high-density tumor infiltrating lymphocytes constitute a favorable entity in breast cancer: a pooled analysis of four prospective adjuvant trials. Oncotarget. 2016 Jan 26;7(4):5074-87. PMID 26506242

John F. DiPersio, M.D., Ph.D.
Virginia E. and Samuel J. Golman Professor in Medicine
Chief, Division of Oncology, WU School of Medicine, St. Louis
Deputy Director, Alvin J. Siteman Cancer Center
Professor of Medicine, Pathology & Immunology

Dr. John F. DiPersio, Deputy Director, Alvin J. Siteman Cancer Center and Chief of the Division of Oncology at Washington University School of Medicine in St. Louis and the Virginia E. and Samuel J. Golman Professor of Medicine.
Dr. DiPersio’s research focuses on fundamental and translational aspects of leukemia and stem cell biology. These studies include identification of genetic abnormalities in human leukemias, understanding processes involving stem cell and leukemia cell trafficking, and clinical and translational programs in both leukemia/myelodysplastic syndrome and stem cell transplantation.
Dr. DiPersio is President of American Society of Blood and Marrow Transplantation, a member of the Board of Scientific Counselors (Clinical Science and Epidemiology) of the National Cancer Institute, an elected member of American Society for Clinical Investigation and American Academy of Physicians (AAP), previously Chair of the American Society of Hematology (ASH) Scientific Committee on Hematopoiesis and the 2013 recipient of the Daniel P. Schuster Distinguished Translational Investigator Award from Washington University, the 19th Annual AACR Joseph H. Burchenal Memorial Award for Outstanding Achievement in Clinical Cancer Research in 2014 and the 2014 recipient of the American Society of Hematology Mentor Award for Clinical Investigations. He has authored or co-authored more than 300 publications and over 60 invited reviews and book chapters.
Dr. DiPersio received his M.D. and Ph.D. from the University of Rochester and his B.A. in Biology from Williams College. He completed an internship and residency at Parkland Memorial Hospital and The University of Texas Southwestern Medical Center in Dallas. After serving as chief resident at Parkland Memorial Hospital, Dr. DiPersio completed a fellowship in the Division of Hematology/Oncology at the University of California, Los Angeles (UCLA) where he stayed on as an Assistant Professor before moving to the University of Rochester and then four years later to Washington University.

G. Bernhard Landwehrmeyer, MD, PhD, FRCP
Professor of Neurology, Ulm University, Germany.

G. Bernhard Landwehrmeyer, MD, FRCP is Full Professor of Neurology at Ulm University Hospital, Deptatment of Neurology, where the Central Coordination of the European Huntington’s Disease Network (EHDN) is situated.
In 2004 he was instrumental in founding EHDN and served as chairman of the Executive Committee until 2014. EHDN serves as a platform for professionals, people affected by Huntington’s disease (HD), and their relatives to facilitate working together throughout Europe and conducts large prospective natural history studies in HD, e.g. the REGISTRY study. EHDN and REGISTRY is generously funded by the CHDI Foundation (USA).
Professor Landwehrmeyer received his MD degree and Doctoral Degree from the Albert-Ludwigs-University, Freiburg. He was trained at the Royal Victoria Hospital, Queen’s University, Belfast, at the Kantonsspital, Basel and worked as a post-Doc from 1993 -1996 at MGH, Harvard Medical School, Boston. From 1995–1999, he was staff member at Albert-Ludwigs-University (Departments of Neurology and Psychiatry). In 1999 he received his Board Certification in Neurology and a year later the Venia Legendi and full Professorship (‘C3’) in Neurology at the University of Ulm. He served as Principal Investigator in numerous HD trials and is Global PI of the CHDI-sponsored Enroll-HD study – a prospective longitudinal observational study on HD and a clinical research platform with a worldwide reach that annually collects phenotypical clinical data and biomaterials.

Wim Mandemakers, PhD
Senior Scientist,
Department of Clinical Genetics,
Erasmus Medical Center, Rotterdam, The Netherlands.

After obtaining his PhD at Erasmus MC, Rotterdam, the Netherlands, and postdoctoral periods in the Labs of Dr. Ben barres at Stanford University, USA and Dr. Bart de Strooper at KUL/VIB in Leuven, Belgium, Wim Mandemakers is currently a senior scientist at the Clinical Genetics department at Erasmus MC, Rotterdam, the Netherlands.
In close collaboration with Dr. Vincenzo Bonifati, the main goal of his research group is identification and functional characterization of genetic mutations in heritable forms of Parkinson’s disease (PD) and other movement disorders. He uses patient derived induced pluripotent stem cells (iPS) that are differentiated into various brain cell types as a model system to study PD. His work on PD has contributed to insight into the molecular mechanisms that lead to pathology in PD, in particular the role of LRRK2 in synaptic vesicle recycling.
Wim Mandemakers received several honors and awards, including a Marie Curie Intra European Fellowship. He is also a member of the editorial board of Parkinsonism & Related Disorders. His work has been published in many peer-reviewed journals, including Science, EMBO journal, Neuron, Nature Neuroscience, Annals of Neurology. Most recently, work from Dr. Mandemakers and Dr. Bonifati and collaborators was published in Lancet Neurology, describing the identification of LRP10 as a novel gene in late-onset inherited synucleinopathies.

Luís F. Maia, MD, PhD
Hospital de Santo António, Centro Hospitalar do Porto
Auxiliary Professor,
Instituto de Ciências Biomédicas, Univerdity of Porto
Invited Researcher,
Instituto de Biologia Molecular e Celular – i3S
Porto, Portugal

• 1992-1998 – Medicine Degree – Instituto de Ciencias Biomédicas Abel Salazar, Universidade do Porto (ICBAS-UP), Porto, Portugal.
• 2000-2005 – Neurology Residency – Hospital Geral de Santo António (HGSA), Porto, Portugal.
• 2010-2015 – PhD in Neurosciences – Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
• 1999-2000 – Medicine Resident, HGSA, Porto, Portugal.
• 2001-2006 – Neurology Resident, HGSA, Porto, Portugal.
• 2005 – Guest Scientist, University of British Columbia, Vancouver, Canada.
• 2006-2010 – Neurologist, Hospital de Santo António, Centro Hospitalar do Porto (HSA-CHP), Porto, Portugal.
• 2010-2015 – Guest Scientist, HIH, University of Tübingen, Germany.
• Since 2015 – Neurologist (Stroke and Cognitive Neurology), HSA-CHP, Porto, Portugal.
• Since 2016 – Auxiliary Professor, ICBAS-UP, Porto, Portugal.
• Since 2016 – Invited Researcher, IBMC-i3S, U. Porto, Porto, Portugal.
• 2005 – Novartis Prize from the Portuguese Society of Neurology (SPN), Lisboa, Portugal.
• 2007 – Clinical research prize of Portuguese Society of Human Genetics 2007 (1st prize ex-aequo).
• 2017 – Hertie Institute for Clinical Brain Research “Paper of the year award 2017”, Tübingen, Germany.
• 2017 – Sollari Allegro Prize from Centro Hospitalar do Porto, Porto, Portugal.
Full publication list:; 5 PUBLICATIONs

Eduardo Tizzano, MD, PhD
Dept. of Clinical and Molecular Genetics
and Rare Diseases,
Hospital Valle Hebron,
Barcelona, Spain

Professor Eduardo Tizzano, MD. PhD. was born in La Plata (Argentina) and is specialist in Pediatrics and Medical Genetics. He is actually Director of the Department of Clinical and Molecular Genetics and Rare Diseases of the Hospital Valle Hebron, one of the largest University Hospitals in Spain and Europe.
He graduated and doctorate from the University of La Plata (Argentina) and received medical training and medical practice in the two largest Pediatric Hospitals in South America: Ricardo Gutierrez and Juan P Garrahan (both located in Buenos Aires, Argentina). He was Postdoctoral fellow in the Hospital for Sick Children in Toronto, Canada (1990-1993) and Researcher and Consultant Faculty member in Pediatrics at the Hospital Sant Pau, Barcelona (1994-2013). His main areas of research include the characterization of SMA during human development, genotype-phenotype correlations, identification of modifier genes and validation of biological markers publishing extensively in these areas as well as in other genetic disorders. He is very active in academic and research activities at national and international levels collaborating with different neuromuscular and genetic centers and participates as PI and collaborator in clinical trials. Prof. Tizzano has close liaisons to regional, national and international patient support groups (ASEM, FUNDAME, FEDER, SMA Europe, AFM, UILDM, EURORDIS) as well as scientific groups and societies (CIBERER, AEGH, SEGCD,ESHG). He was recipient of several prizes in the field of rare diseases and neuromuscular disorders including the Queen Sophia Prize for his cumulative clinical, research and social work in SMA. He is also curator of the Spanish SMA Registry (FUNDAME), member of the TGODC (Treat-NMD), and coordinates SMA sample biobank and clinical research collaborations in Spain with the purpose to define therapeutic targets for the disease and support clinical trial readiness.

Hannes Arnold, PhD
Technical Sales Specialist for Central EMEA
10x Genomics
Munich, Germany

Hannes (Hans Peter) Arnold studied Biology, Chemistry, and Practical and Theoretical Education at the LMU in Munich (Germany). He received his PhD on Molecular Biology at the Max-Planck-Institute for Biochemistry in Martinsried (Germany). He continued to work in several positions in industry at the interface between sales and science. He worked in the last seven years as Sales Specialist and Business Development Manager with different companies in the field of Next Generation Sequencing (among them Illumina). He joined 10x Genomics in December 2017 as Technical Sales Specialist for Central EMEA.

Hans van Bokhoven, PhD
Full Professor of Neurogenetics,
PI and Group Leader,
Radboud University Medical Center and
Donders Institute for Brain, Cognition and Behaviour,
Nijmegen, The Netherlands

Hans van Bokhoven is heading the Molecular Neurogenetics Unit at the interface between the Departments of Human Genetics and Cognitive Neuroscience. The key goal is to reveal novel neurobiological concepts by resolving the genetic and epigenetic networks that are disrupted in neurodevelopmental disorders, including intellectual disabilities, autism spectrum disorder, and epilepsy. The team uses a multi‐level strategy that combines clinical genetics (Dr. T. Kleefstra, Dr. B. De Vries), functional genomics and molecular & cellular neurobiological approaches, such as the generation and characterization of in vitro (primary neurons and hiPSC-derived human neural cells) and in vivo model organisms (Dr. N. Nadif Kasri). We aim to integrate pure fundamental neurobiological research with clinical applications and personalized medicine. In particular, our expertise in the generation of patient-derived neural lineages and their neuro-physiological analysis at single cell and network level (MEA) is setting the stage in this novel research field.

1987 – MSc in Agricultural Sciences (Engineer), Wageningen University, Netherlands.
1993 – PhD (Molecular Biology), Wageningen University, Netherlands.

Previous scientific or professional activities:
1992-1996: Postdoc, Department of Human Genetics, Radboudumc, Nijmegen.
1996-2003: Assistant professor Human Genetics.
2003-2010: Associate professor/Research co-ordinator, Dept. Human Genetics.
2004-present: Principal Investigator of the Nijmegen Center for Molecular Life Sciences.
2008-present: Principal Investigator Donders Centre for Neuroscience (Nijmegen).
2008-present: Principal Investigator Radboudumc.
2010-present: Professor Molecular Neurogenetics.
2012-present: Central Commission Human-related Research The Hague (CCMO); 10% appointment.

Scientific production:
• H-index (Web of Science): 67
• 280 articles with >13,250 total citations (~50 citations/article).
• >100 invited conferences and seminars
• Coordinator of two large EU collaborative projects: Euro-MRX and GENCODYS.

André M. Travessa, MD, MSc
Medical Genetics Fellow
Department of Medical Genetics,
Santa Maria Hospital (Centro Hospitalar Lisboa Norte)
Lisbon, Portugal

André Travessa graduated in medicine at Lisbon University Medical School in 2014. He is currently a medical genetics fellow in the Department of Medical Genetics of Santa Maria Hospital (Centro Hospitalar Lisboa Norte) and a teaching assistant of histology and developmental biology at Lisbon University Medical School.
He is member of the Portuguese Society of Human Genetics, the European Society of Human Genetics and the GruPEDGE working group, and member of the scientific committee of the Association for the Blind “Bengala Mágica”.
He published five papers in international peer-reviewed journals and presented several communications in national and international conferences and meetings. His main areas of interest are genetic skeletal disorders (including osteogenesis imperfect) and intellectual disability. He is involved in two research projects in the field of osteogenesis imperfecta.
He collaborates with other departments and research groups, including the Instituto de Genética Médica y Molecular (Hospital Universitario La Paz, Madrid, Spain).

Heloísa G. Santos, MD, PhD
President, SPGH Bioethics Committee
Department of Medical Genetics,
Santa Maria Hospital (Centro Hospitalar Lisboa Norte)/
Faculty of Medicine, University of Lisbon (FMUL)
Lisbon, Portugal

Consultant in Clinical Genetics and Paediatrics. President of SPGH Bioethics Committee. Head of Genetics Unit of Paediatric Service, Hospital Santa Maria (1974–1999). Training with CO Carter in medical genetics and cytogenetics in Clinical Genetics Unit, Institute of Child Health, London (1978). First Director of Medical Genetics Service of Hospital Santa Maria, Lisboa (1999–2004). GENOMED—Consultant in Medical Genetics of Institute Molecular Medicine of Faculty Medicine. University Lisbon (2004-2007). Permanent Consultant in Medical Genetics of portuguese Directorate-General of Health since 1996. University Assistant of Medical Genetics in Faculty of Medical Sciences of University of Lisbon (1977-1982). University Assistant of Medical Genetics of Faculty of Medicine University of Lisboa (1983-1991). PhD in Genetics (1991), Faculty of Medicine University Lisbon (FMUL). Invited Professor of Medical Genetics in FMUL (1991–2004). Lecture in Bioethics in the Bioethics Centre of Faculty of Medicine University of Lisbon (from 2000). Member of UNESCO International Bioethics Committee (2002- 2006). President of Bioethics Council of Portuguese Nacional Health Institute, INSA (2012–2015); President of Bioethics Committee of Portuguese Paediatrics Society until 2016. National Genetics Award m–1991; Tuberous Sclerosis Association Award—1994; INSA AWARD—2017. Member of ESHG (from 1978), BSMG (from 1984), Portuguese Society of Paediatrics (from 1970), SPGH (Honorary), Tuberous Sclerosis Association (Honorary). European Society Human Genetics (ESHG) —member from 1978. Host and local President of the ESHG 30th Annual Meeting (Lisbon, 1997). Scientific Programme Committee Member (1997–1999). Portuguese Society Human Genetics—Founder member (1996), President in 1997 (first) and 2004. Honorary Member (2011), President of Bioethics Committee. Over 120 publications in Medical Genetics and Bioethics most in international journals and books. Research leader in several scientific projects.

André Dias Pereira, PhD
Professor of Law
President of Centro de Direito Biomédico,
Faculty of Law, University of Coimbra
Coimbra, Portugal

André Pereira is a Professor of Civil Law at the University of Coimbra (Portugal), Director of the Centre for Biomedical Law and a Member of the National Council of Ethics for Life Sciences.
Pereira’s academic career started with his graduation in law at the University of Coimbra (1998) and since then he has obtained a post-graduate degree in both Medical Law (1999) and Civil Law (2002) and in 2003 he defended his Master’s thesis. He obtained his PhD in law (summa cum laude) in 2014, with the thesis “Medical Liability and Patients’ Rights”.
Moreover, Pereira is Researcher at the University of Coimbra Institute for Legal Research. He is member of several Ethics committees (Portuguese Society of Human Genetics, National Institute of Legal Medicine and Forensic Sciences, AIBILI Ethics Committee) and Member of the Committee for Animal Well-being of IMBC – Institute of Molecular and Cellular Biology (Porto).
At the international level, Pereira is a Fellow of ECTIL (European Centre of Tort and Insurance Law, Vienna, Austria), has been a Governor of the World Association for Medical Law (2012-2018) and a Member of the International Academy of Comparative Law.

Y. M. Dennis Lo, SBS MA, DM, DPhil, FRCP, FRCPath, FRS JP 
Associate Dean (Research)
Director, Li Ka Shing Institute of Health Sciences
Chairman, Department of Chemical Pathology
Li Ka Shing Professor of Medicine
Professor of Chemical Pathology
Faculty of Medicine, The Chinese University of Hong Kong

Dennis Lo is the Associate Dean (Research) of the Faculty of Medicine, the Director of the Li Ka Shing Institute of Health Sciences and Chairman of the Department of Chemical Pathology of The Chinese University of Hong Kong. He received his undergraduate education from the University of Cambridge, and his Doctor of Medicine and Doctor of Philosophy degrees from the University of Oxford.
He discovered the presence of cell-free fetal DNA in maternal plasma in 1997 and is a key driver of non-invasive prenatal diagnosis. He has also pioneered many non-invasive approaches for detecting cancer-associated molecular aberrations in blood.
He is a Fellow of the Royal Society (UK) and a Foreign Associate of the US National Academy of Sciences, and has been awarded the King Faisal International Prize in Medicine in 2014 and the Future Science Prize in 2016.