2021 Meeting Speaker List


Name E-Mail Institution
Ahadova, Aysel
Board Member
aysel.ahadova@ehtg.rogUniversityhospital Heidelberg
Heidelberg, Germany
Burn, John
Board Member
john.burn@ehtg.orgNewcastle University
Newcastle, United Kingdom
Dominguez-Valentin, Mev
Board Member
mev.dominguez.valentin@ehtg.orgOslo University Hospital
  Oslo, Norway

Dominguez-Valentin, Mev

Oslo University Hospital


Mev Dominguez-Valentin, PhD is a Scientist at the Department of Tumor Biology of the Institute for Cancer Research from Oslo University Hospital (Norway). Dr. Dominguez-Valentin has had extensive mobility throughout her career, with activity across many countries, and even two continents.

One of the main focus of Dr. Dominguez-Valentin is about Lynch syndrome (LS), that is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. Dr. Dominguez-Valentin is the curator of the largest database in Lynch Syndrome (PLSD) that aims to facilitate personalized precision medicine for the pathogenic MMR carriers.

Dr. Dominguez-Valentin have been using multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing, to gain information on to which degree other genes may have been causative for cancer in the patients and their relatives, and to be informed on how such genes were deranged to discriminate between normal and disease-causing variants. In addition, Dr. Dominguez-Valentin et al. analyzed the impact of a subset of VUS on RNA splicing by the use of minigene assays.

Dr. Dominguez-Valentin is also interested in unravelling the challenges of implementing the advances in diagnosis of hereditary cancer susceptibility and applying these insights to clinical practice in Latin America. In the Latin American countries, training in human genetics and medical genetics is scarce. Dr. Dominguez-Valentin et al. has brought knowledge on the genetic background of LS in Latin America and may enable the identification of multiple frequent founder variants, which subsequently may be subjected to testing in the areas where they occur. In addition, we have established national and international collaborations in LS that have been crucial, especially in generating knowledge about MMR gene variant classification and sharing of genetic practices within the region. Collaborative efforts aim to ensure that all Latin Americans have access to genetic services and to bring additional awareness to medical professionals and public health leaders. The importance of this finding was recognized by the scientific community, and also by the general public; it was covered by the media in Latin America and have generated more than 20 scientific publications.

Dr. Dominguez-Valentin pursues her interest in the genetic epidemiology of hereditary cancers in low-resource setting in Peru. Dr. Dominguez-Valentin et al. have identified a greater proportion of cancer cases than previously described, with a young age of onset and differential profile of the most frequent cancers and analyzed using a gene panel containing 96-cancer associated genes.

At educational and mentoring level, Dr. Dominguez-Valentin is co-founder of the Research Experience for Peruvian Undergraduates Program (REPU), active mentor of the international mentoring program in Peru and actively promotes the research of Peruvian scientists in Europe (SINAPSIS).

Website: https://www.ous-research.no/dominguez-valentin

Moeslein, Gabriela
Board Member
gabriela.moeslein@ehtg.orgEvangelic Bethesda Hospital
Duisburg, Germany
Moller, Pal
Board Member
pal.moller@ehtg.orgThe Norwegian Radium Hospital
Oslo, Norway
Sampson, Julian
Board Member
julian.sampson@ehtg.orgCardiff University
Cardiff, United Kingdom
Seppälä, Toni
Board Member
toni.seppala@ehtg.orgHelsinki University Hospital
Helsinki, Finland
Sijmons, Rolf
Board Member
rolf.sijmons@ehtg.orgUMCG - University Medical Center
Groningen, Netherlands
ten Broeke, Sanne
Board Member
sanne.tenbroeke@ehtg.orgUMCG - University Medical Center
Groningen, Netherlands
Auranen, Annika annika.auranen@pshp.fi University of Turku
Turku, Finland
Buchanan, Daniel daniel.buchanan@unimelb.edu.au University of Melbourne
Melbourne, Australia
Cavestro, Giulia Martina cavestro.giuliamartina@hsr.it Università Vita-Salute San Raffaele
Milano, Italy
Evans, Gareth Gareth.Evans@mft.nhs.uk Manchester University
Manchester, United Kingdom
Ferreira, Fabio fabioferreiracco@gmail.com Hospital Sirio-Libanes
São Paulo, Brazil
Georgiou, Demetra demetra.georgiou@nhs.net Cardiff University
Cardiff, United Kingdom
Haag, Martin GeorgMartin.Haag@med.uni-heidelberg.de University Hospital
Heidelberg, Germany
Hüneburg, Robert Robert.Hueneburg@ukbonn.de University Hospital
Bonn, Germany
Katona, Bryson Bryson.Katona@pennmedicine.upenn.edu Penn Medicine - University of Pensylvania
Philadelphia, USA

Katona, Bryson

Penn Medicine - University of Pensylvania


Bryson Katona, MD, PhD is an Assistant Professor of Medicine in the Division of Gastroenterology and Hepatology at the University of Pennsylvania Perelman School of Medicine in the United States, where he serves as the Director of the Gastrointestinal Cancer Genetics Program and Director of the Gastrointestinal Cancer Risk Evaluation Program, and he also is a member of the Cancer Control Program of the Abramson Cancer Center.

Bryson is a physician-scientist who is an expert in gastrointestinal cancer genetics, and his research program focuses on the diagnosis, risk assessment, management, and biology of hereditary gastrointestinal cancer predisposition syndromes.

Bryson received his BA/MS at the University of Pennsylvania, followed by his MD/PhD at Washington University in St. Louis, and he completed his post-doctoral research in the laboratory of Dr. Xianxin Hua at the University of Pennsylvania.

Kloor, Matthias Matthias.Kloor@med.uni-heidelberg.de University Hospital
Heidelberg, Germany
Lepistö, Anna Henriikka anna.lepisto@hus.fi University of Helsinki
Helsinki, Finland
Levi, Zohar zohar.levi.gastroenterology@gmail.com Rabin Medical Center
Tel Aviv, Israel
Lipkin, Steven stl2012@med.cornell.edu Weill Cornell Medicine
New York, USA

Lipkin, Steven

Weill Cornell Medicine; USA, New York


Dr Lipkin is Vice Chair for Research, Weill-Cornell Department of Medicine. He is also a a standing member of the FDA Molecular and Clinical Genetics Panel, which reviews and votes on approval of new genetic tests in the US.

He is Director of the Weill Cornell Medical College Genetics Clinic, where he practice as a Clinical Geneticist and supervise Genetic Counselors in the Departments of Medicine and Genetic Medicine, and Director of the Program in Mendelian Genetics.

As a physician-scientist he has published in many well cited journals, including Cell, Cell Stem Cell, Nature Biotechnology, Nature Genetics, Science, Genes and Development, Proceedings of the National Academy of Sciences and Journal of Clinical Investigation, among others. He directs a research laboratory that uses immunology, massively parallel sequencing, computational biology, mouse models, cell culture and genomics to understand the contribution of genetics to, and mechanisms of, hereditary genetic syndromes. Previously he discovered and mechanistically characterized MLH3, a DNA mismatch repair gene colorectal polyposis and cancer predisposition gene, and also identified or co-identified 6 B cell malignancy predisposition genes. One of his current areas of focus is to help drive an international effort to develop and validate a cancer immunoprevention vaccine for Lynch syndrome.

The Age of Genomes: Tales from the Front Lines of Genetic Medicine

Bound edition from 17 May 2016

A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in history

Almost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families.

Steven Lipkin and Jon Luoma posit that today’s genomics is like the last century’s nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes!

The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.

Mecklin, Jukka-Pekka jukka-pekka.mecklin@ksshp.fi Central Hospital Central Finland
Jyväskylä, Finland

Mecklin, Jukka-Pekka

Central Hospital Central Finland


Professor of surgery (emeritus).
Founder of the Finnish Lynch syndrome research registry (since 1982).

Monahan, Kevin k.monahan@nhs.net St Mark's Hospital
London, United Kingdom

Monahan, Kevin

St Mark's Hospital; London, United Kingdom


Consultant gastroenterologist at the Family Cancer Clinic & Wolfson Unit for Endoscopy, at St Mark's Hospital who joined in April 2019.

Dr Monahan undertook his PhD at Cancer Research UK and at St Mark’s Hospital, and has spent 9 years working at West Middlesex University Hospital and Chelsea & Westminster Hospital where he still leads a cancer genetics clinic. He is also an honorary senior clinical lecturer at Imperial College London.

Dr Monahan performs genetic testing, endoscopic and other screening for gastrointestinal cancer in susceptible populations, such as those people with a family history of cancer, and also has an interest in prevention and early detection of cancer. He has research interests in clinical and molecular aspects of gastrointestinal pathology, particularly in the field of endoscopy, colorectal, pancreatic and other gastrointestinal cancers

Dr Kevin J Monahan FRCP PhD
Consultant Gastroenterologist
Lynch Syndrome & Family Cancer Clinic
St Mark's Hospital
Harrow HA1 3UJ
London, United Kingdom
Telephone 0044 (0)20 8235 4266
http://www.stmarksacademicinstitute.org.uk/consultants/kevin-monahan/
http://www.stmarkshospital.nhs.uk/the-lynch-syndrome-clinic/

Nagtegaal, Iris Iris.Nagtegaal@radboudumc.nl Radboud UMC
Nijmegen, Netherlands
Naxerova, Kamila naxerova.kamila@mgh.harvard.edu Massachusetts General Hospital
Boston, USA
Nielsen, Maartje m.nielsen@lumc.nl Leids Universitair Medisch Centrum
Leiden, Netherlands

Nielsen, Maartje

Leids Universitair Medisch Centrum; Leiden, Netherlands


Maartje Nielsen is a PhD and MD at the department of clinical genetics at the Leiden University Medical Center. Dr. Nielsen’s research primarily focusses on inheritable forms of bowel cancer, uveal melanoma, mesothelioma, and polyposis.

One of the main goals is to be able to better predict cancer risk and create tailor made surveillance schemes. Her recent work focuses also on carcinogenesis in the Lynch syndrome and polyposis patients by studying the molecular profile of carcinomas and adenomas.

Pellise, Maria mpellise@clinic.cat Clínic Barcelona
Barcelona, Spain
Ricciardiello, Luigi luigi.ricciardiello@unibo.it University of Bologna
Bologna, Italy
Ristimäki, Ari ari.ristimaki@hus.fi University of Helsinki
Helsinki, Finland
Sunde, Lone l.sunde@rn.dk Aarus University
Aarhus, Denmark
Thomas, Laura E. Laura.E.Thomas@Swansea.ac.uk Swansea University Medical School
  Swansea, United Kingdom
von Knebel-Doeberitz, Magnus magnus.knebel-doeberitz@med.uni-heidelberg.de Universityhospital Heidelberg
Heidelberg, Germany
Winship, Ingrid ingrid.winship@mh.org.au The Royal Melbourne Hospital
Melbourne, Australia
Yurgulun, Matthew Matthew_Yurgelun@dfci.harvard.edu Dana-Farber Cancer Institute
Boston, USA
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