NSHG-PM Conference Speakers

NSHG-PM President/Keynote Presenter/Mentor

Kári Stefánsson

Kári Stefánsson, MD, Dr Med, founded deCODE in August 1996. Dr. Stefánsson was previously a professor of Neurology, Neuropathology and Neuroscience at Harvard University and Director of Neuropathology at Beth Israel Hospital in Boston, Massachusetts. From 1983 to 1993, he held faculty positions in Neurology, Neuropathology and Neurosciences at the University of Chicago.

Dr. Stefánsson received his MD and Dr. Med. from the University of Iceland and is board-certified in neurology and neuropathology in the United States. Dr. Stefansson is recognized as a leading figure in human genetics. He has shaped deCODE’s scientific approach and been actively engaged in leading its gene discovery work, serving as senior author on most of the company’s publications in major scientific journals.

HOST/MENTOR

Mark Daly

Mark Daly, Ph.D., is the Director of the Institute of Molecular Medicine Finland FIMM. Mark was recruited from Harvard Medical School – where he was the founding chief of the Analytic and Translational Unit at the Massachusetts General Hospital from 2011 – and the Broad Institute of MIT and Harvard. His lab has developed many foundational computational tools and statistical techniques in genome mapping, linkage and association, and automated interpretation of laboratory data. The lab has a significant and longstanding commitment in two major medical areas: the inflammatory bowel diseases (Crohn’s and ulcerative colitis) and neuropsychiatric disease (autism and schizophrenia) and Mark has led international consortium efforts large-scale gene mapping efforts in each of these areas. With Dr. Palotie, he has helped design and launch the FinnGen Project as a transformative public-private partnership.

Mark was the recipient of the Curt Stern Award from the American Society of Human Genetics in 2014 and was elected to the National Academy of Medicine in 2017.

SESSION CHAIR

Ole Andreassen

Ole Andreassen is a Professor at the Institute of Clinical Medicine in Oslo, Norway. His research areas include: psychiatric genetics, brain imaging and genetics, somatic health and immunological factors in severe mental disorders, clinical pharmacology and pharmacogenetics.

Prof Andreassen co-chairs the Alzheimer’s Disease Group and co-chairs the Bipolar Disorder Group of the Psychiatric Genomics Consortium (PGC).

PRESENTER

Karina Banasik

Karina Banasik is Associate Professor at the University of Copenhagen. She a computational geneticist with experience in genetics of common diseases, bioinformatics, and statistical epidemiology. Dr. Banasik is particularly interested in the challenges of combining genetic data with other omics and biomedical data to aid in precision medicine. The primary focus of her current research is analyses of large-scale omics data. She facilitates such analyses by coordinating the research infrastructure for two large genetic research biobanks in Denmark: the Danish Blood Donor Study and the Copenhagen Hospital Biobank.

PRESENTER

Heidi Bentzen

Heidi B. Bentzen holds an LLM/Master of Laws degree, and shares her time between The Centre for Medical Ethics at the Faculty of Medicine and The Norwegian Research Center for Computers and Law at the Faculty of Law, both at The University of Oslo. She is a member of the United Nations Special Rapporteur on the Right to Privacy’s Task Force on privacy and the protection of health data (MediTAS), and was part of drafting the global Recommendation on the protection and use of health-related data. Bentzen’s PhD project pertains to the legal regulation of personalized medicine in the EU/EEA. This includes the regulation of genetic testing, and the processing of human biological samples and DNA data, including reuse and data sharing both within and outside the EU/EEA. Bentzen also researches reuse of health data through the Nordic, interdisciplinary, empirical project governance of health data in cyberspace.

Mentor

Anders Børglum

Anders Børglum is a Professor of Medical Genetics at Department of Biomedicine, Aarhus University in Denmark where he also chairs the Center of Personalized Medicine and the Personalized Medicine Network. He is co-founder and a PI of the iPSYCH initiative on integrative psychiatric research and his main research area is psychiatric genetics.

Prof Børglum also co-chairs the Autism Spectrum Disorder Group of the Psychiatric Genomics Consortium (PGC).

PRESENTER

Richard Rosenquist Brandell

Richard Rosenquist Brandell was recently appointed Professor of Clinical Genetics at the Department of Molecular Medicine and Surgery, Karolinska Institutet and Senior Physician in Clinical Genetics at Karolinska University Hospital, Sweden. He received his medical degree (1996) and PhD degree (1998) at Umeå University, Sweden, undertook a postdoctoral period at the Department of Pathology, Frankfurt am Main, Germany, and became specialist in Clinical Genetics 2004. He has initiated and led the SciLifeLab Clinical Genomics Facility in Uppsala between 2013-2017 and is currently Platform Director for the national Diagnostics Development Platform within SciLifeLab. More recently, he is coordinating the Genomics Medicine Sweden initiative that aims to build a new type of infrastructure within Swedish healthcare that implements precision medicine at a national level.

PRESENTER

Søren Brunak

Søren Brunak is a leading pioneer in the biomedical sciences through invention and introduction of new computational strategies for analysis of biomedical data for use in molecular biology, medicine and biotechnology. In 2007 he became one of the founding research directors at the Novo Nordisk Foundation Center for Protein Research at the University of Copenhagen. In 2011 he was also one of the founders of the Novo Nordisk Foundation Center for Biosustainability at DTU, where he led the Section for Metagenomic Systems Biology until 2013. He continues to be affiliated professor at DTU as well as at Copenhagen University Hospital (Rigshospitalet).

PRESENTER

Guðmundur Einarsson

Guðmundur Einarsson is a research scientist at deCODE genetics. Guðmundur‘s primary focus is on statistical genetics, with a specific interest in cognition and lifestyle-related traits. Guðmundur finished an MSc degree in mathematics, emphasizing statistics, in 2014 from the University of Iceland. Guðmundur lived in Denmark from 2014-2020, where he finished a Ph.D. and a postdoc at the image analysis and computer graphics group at the Technical University of Denmark. Guðmundur has also been employed as a software engineer and has a strong background in mathematical modeling and high-performance computing. His current interests focus on polygenic scores, ways to model relationships of complex phenotypes, machine learning for phenotyping and understanding data, and general aspects of human diversity.

PRESENTER

Giuseppe ‘Nick’ Giordano

Giuseppe ‘Nick’ Giordano is acting head of the Genetic and Molecular Epidemiology (GAME) unit at Lund University, Sweden. He is an Associate Professor of Public Health epidemiology and is currently engaged as work-package co-lead in several IMI projects, whose focus are on type 2 diabetes and obesity research. He is also the PI of a Recall-by-Genotype trial, which hopes to demonstrate how in vitro discoveries can translate into predictable real-world health outcomes. Nick is a relative latecomer to academia, having practiced dentistry in the UK and Australia for 14 years, prior to defending his PhD in 2012.

PRESENTER

Thomas F. Hansen

Thomas F. Hansen is research leader at the Department of Neurology and Danish Headache Center, Rigshospitalet Glostrup, University of Copenhagen. He has been involved in neurogenetics for more than 13 years, and has authored >110 scientific research articles. This includes genetic hallmark papers in both migraine and schizophrenia research. His interest is molecular genomics of complex traits

PRESENTER

Johannes ER Hov

Johannes ER Hov is a Norwegian MD working as a senior consultant in gastroenterology at Oslo University Hospital. Hov has a PhD in genetics of the liver and bile duct disease primary sclerosing cholangitis and is currently leading a research group on genomics and metagenomics of inflammatory diseases. He is currently holding an ERC Starting grant to the project StopAutoimmunity, and was recently appointed as professor of gastroenterology at University of Oslo.

PRESENTER

Kristian Hveem

Kristian Hveem is a Professor in Medicine and Clinical Epidemiology at the Faculty of Medicine and Health Sciences, the Norwegian University of Science and Technology (NTNU), and a specialist in gastroenterology and internal medicine. He is the director of HUNT Biobank and the national CONOR biobank in Norway. Since 2010 he has been leading the National Biobank Infrastructure, Biobank Norway, funded by the Research Council of Norway, and he is the Norwegian representative on the BBMRI-ERIC management committee. From 2010-2013 he served as the first director of the Danish National Biobank (DNB). He is also the present leader of the Nordic Biobank Network. In 2016 his research group, HUNT, was funded as a K.G. Jebsen Center for Genetic Epidemiology, a national funding scheme for excellent research centers in translational medicine.

PRESENTER

Andrés Ingason

Andrés Ingason’s research background is molecular biology and population genetics. During his PhD and postdoc, both at deCODE and then at IBP in Denmark, he specialized in the analysis of copy number variation (CNV) from SNP-array data, an emerging field in genetics at the time. In 2013-2018, he returned to deCODE and learned how to impute SNP genotypes and calculate polygenic risk scores to leverage the power of low-risk SNPs in studying genetic aspects of brain disorders and behavioural traits. Since returning to IBP in 2018 as a research leader, his main focus is again mostly on CNVs, but also on studying genetic variation from ancient human samples to gain insight into the evolution of psychiatric and behavioural traits as part of the Lundbeck Foundation GeoGenetics Centre.

Mentor

Bo Jacobsson

Professor Bo Jacobsson is head of Perinatal Research Laboratory at Sahlgrenska University Hospital, Gothenburg, Sweden and Senior researcher at the Institute of Public Health, Oslo, Norway. A clinical scientist with a specialty in Obstetrics and Maternal/Fetal Medicine. Leading expert on mechanisms and epidemiology of preterm delivery.

He is a steering group member of Genomic Medicine Sweden and is chairing the Genomic Medicine Sweden complex diseases group. He is also Swedish representative in Nordic Society of Precision Medicine. Prof Jacobsson has been involved in the work of different international organizations within maternal and neonatal health. He is presently the FIGO Division Director of Maternal and Neonatal Health 2021-2023 and the past chair of the FIGO’s Committee of Preterm Birth 2021-2023. He is presently also leading the European Branch of PREBIC and the special interest group of preterm delivery within European Association of Perinatal Medicine. He is also part of the Partnership for Maternal, Neonatal, Child and Adolescent Health and co-chairing the work steam Maternal, Newborn & Child Health within the Partnership’s Knowledge and Evidence Working Group on Maternal, Newborn & Child Health. He is also serving and has served as an expert on several WHO special task groups.

Prof. Jacobsson has published more than 300 per reviewed papers between 2002-2020. Among other journals he has published in Nature, Science, New England Journal of Medicine, Nature Genetics, PLOS Medicine and JAMA. He has been invited to lecture to more than 140 international scientific conferences.

PRESENTER

Juha Karjalainen

Juha Karjalainen is a computational scientist at the Broad Institute of MIT and Harvard and FIMM. His work is focused on large-scale analysis of genetic and biobank data in the FinnGen analysis team. Beyond crunching numbers he’s interested in reporting and visualizing genetic findings effectively. Juha’s educational background is engineering in Aalto University, computer science and bioinformatics in University of Helsinki and PhD in genomics in University Medical Center Groningen in the Netherlands.

Mentor

Ingrid Kockum

Ingrid Kockum studied cellular and molecular biology at Cambridge University graduating in 1989, and obtained her PhD at Karolinska Institute in 1995. In 1997, she was a visiting scientist at the Wellcome Trust Centre for Human Genetics, Oxford University.

In 2002 Ingrid Kockum was appointed Group Leader at Karolinska Institute in the Department of Molecular Medicine, and in 2006 transferred to the Department of Clinical Neuroscience. She became an Associate Professor in 2007. On 1 July 2016, Ingrid Kockum was appointed Professor of Genetic Epidemiology specializing in multiple sclerosis at Karolinska Institute.

PRESENTER

Triin Laisk

Triin Laisk is an Associate Professor at the Institute of Genomics (University of Tartu). The main focus of her research is on using the large-scale data available in population-based biobanks to advance the genetic studies in the field of reproductive medicine, with a specific emphasis on female fertility and infertility.

PRESENTER

Stephanie Le Hellard

The aim of Dr. Le Hellard’s research group is to identify how different layers of genetics, epigenetics and gene expression can be involved together in the development of mental disorders, their outcome and how they are modulated by the environment. Dr. Le Hellard is a core researcher at the NORMENT, a Norwegian Centre of Excellence for Research on Mental Health. She is part of the Bergen-based Dr Martens’ group for research on biological psychiatry.

KEYNOTE PRESENTER/MENTOR

Cecilia Lindgren

Professor Cecilia Lindgren is Director of the Big Data Institute (BDI), Li Ka Shing Centre for Health Information and Discovery at University of Oxford. She received a Ph.D. in Molecular Genetics from Lund University and continued her career as a visiting researcher at the Whitehead Institute, MIT, USA where she trained in Statistical Genetics. After post-doctoral work at the Karolinska Institute, she joined the Wellcome Trust Centre for Human Genetics at Oxford University, after which she spent three years as a Scholar in Residence at the Broad Institute of Harvard and MIT before returning to Oxford. Her work has contributed to a substantial furthering of our understanding of the genetic landscape of common complex traits. In line with this, she is co-chairing a range of large-scale international common disease consortia and she is a co-founder of the international Common Disease Alliance (ICDA), which she also co-chairs with Dr. Daly. She has been the recipient of numerous awards and has been listed amongst Thomson Reuters 100 “most highly cited researchers” in Molecular Biology and Genetics consecutively since 2014. Her research focuses on applying genetics and genomics to dissect the etiology of common complex traits, with an emphasis on metabolic and endocrine disorders.

PRESENTER

Nina Mars

Dr. Nina Mars works as a postdoctoral researcher at FIMM/University of Helsinki at the Ripatti Group. She is a medical doctor with a background in statistics and her research focuses on polygenic risk prediction of common complex diseases, with emphasis on clinical translation.

PRESENTER/MENTOR

Andres Metspalu

Andres Metspalu is Professor of Biotechnology, human genomics and biobanking. He graduated from the University of Tartu in 1976 with MD, received his PhD in 1979 and from 1992 he is the full professor there. His main scientific interests are human genomics, DNA analysis technology, genetics of complex diseases and population-based biobanks and application of the precision medicine in health care. He is the founder and head of the Estonian Biobank. In 2010 he was elected to the Estonian Academy of Sciences. He has supervised 25 Ph.D. theses and has published over 500 papers. He is serving in several national and international committees (Cancer Mission Board, SAB of EATRIS, MC of BBMRI-ERIC, CG of 1+Million Genomes in EU), editorial boards and has received among other awards and honors the Order of the Estonian Red Cross 3rd Class and L’Ordre des Palmes Academiques from the Republic of France. From 2010 he was awarded Doctor Honoris Causa from Vilnius University.

PRESENTER/MENTOR

Lili Milani

Lili Milani has a PhD degree in molecular medicine from Uppsala University, Sweden (2009). Her main areas of research have been epigenetics and pharmacogenetics. She is actively involved in research projects focusing on the role of rare and common genetic variants in diseases and treatment response. She is vice director at the Institute of Genomics, University of Tartu, where her main responsibilities are directing research and scientific collaborations at the Estonian Genome Centre. She is also a Professor of Pharmacogenetics and actively participating in preparing and implementing the national strategy for personalized medicine in Estonia in close collaboration with the Ministry of Social Affairs and Institute for Health Development.

PRESENTER

Rikke Steensbjerre Møller

Rikke Steensbjerre Møller, PhD, MSc is a molecular geneticist working as head of Department of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia. She is appointed professor of epilepsy genetics at University of Southern Denmark. The overall aim of her research is to unravel the underlying mechanisms of genetic epilepsies, to understand correlations with clinical symptoms and to find new treatment options. Her team has discovered or contributed to the discovery of several different epilepsy genes, and their work have led to personalized treatment options for different forms of genetic epilepsies. Rikke Steensbjerre Møller is member of EpiCARE, a European Reference Network for rare and complex epilepsies.

PRESENTER

Margit Nõukas

PRESENTER/MENTOR

Aarno Palotie

Professor Aarno Palotie, M.D., Ph.D. is the research director of the Human Genomics program at FIMM-HiLife. He is also a faculty member at the Center for Human Genome Research at the Massachusetts General Hospital in Boston and associate member of the Broad Institute of MIT and Harvard. He has a long track record in human disease genetics. He has hold professorships and group leader positions at the University of Helsinki, UCLA and Wellcome Trust Sanger Institute. He has also been the director of the Finnish Genome Center and Laboratory of Molecular Genetics in the Helsinki University Hospital.

He is the Scientific Director of the large FinnGen project (www.finngen.fi) that combines the genome and national health record data from 500 000 Finnish participants. The project is partnered by Business Finland (The Finnish innovation fund), several international pharma companies, Finnish Universities, University Hospitals, the Institute for Health and Welfare and the Blood Transfusion service.

Mentor

Samuli Ripatti

Samuli graduated from Helsinki University with a MSc in statistics. His doctorate project focused on statistical modelling of correlated data and he received his PhD degree in mathematical statistics from Stockholm University. After post doctorate periods at Karolinska Institute in Stockholm and National Public Health Institute in Helsinki he was appointed to a group leader position at FIMM (Institute for Molecular Medicine Finland).

Samuli’s group studies genetic variation and its connection to lipids, metabolites and other risk factors for metabolic diseases. The group also builds statistical and computational models for cardiovascular disease risk estimation.

PRESENTER

Ástrós Skúladóttir

Ástrós Thorarensen Skúladóttir is an Icelandic-based researcher at the CNS department at deCODE genetics/Amgen Inc. Her background is in statistical and computational genetics, neuroscience, and biochemistry. Ástrós‘s research focuses on the human genetics of neuromuscular disorders, nerve entrapment syndromes, and pain. Her most recent research include genome-wide meta-analyses on Bell‘s palsy and vertigo.

PRESENTER

Sirpa Soini

Dr. Soini has legal education at doctoral level. She works as the Head of Unit, and Biobank Director at Finnish Institute for Health and Welfare (THL). She is member and vice-chair of ethics review board in the University Hospital of Helsinki. She has longstanding practice, and research activities within biomedical law, privacy, regulatory issues and ethics. Core interests include public health, genomics, personalized medicine and international data sharing, and the regulation in general. Doctoral dissertation in law studied legal pluralism of genetic tests regulation. Dr. Soini has contributed to and consulted law drafting processes and policy making since the past 20 years.

SESSION CHAIR

Hreinn Stefánsson

Hreinn Stefánsson, PhD, joined deCODE genetics in 1996 and has led the CNS division since 2000. He received his PhD in biochemistry from Lund University, Sweden and a BSc in biology from University of Iceland. Hreinn has published several articles on the genetics of common/complex diseases including Schizophrenia and Alzheimer’s. Together with his colleagues and collaborators he has contributed to better understanding of the impact conferred by neuropsychiatric copy number variants (CNVs) on psychiatric disorders and cognition.

PRESENTER

Patrick Sulem

Patrick Sulem is a Medical Doctor (MD) specializing in Epidemiology and Public Health and graduated from the University of Toulouse in France in 2002. He also completed a Master of Advanced Studies (MAS) in Genetic Epidemiology at the University of Paris in 2000. He joined deCODE genetics´ Department of Statistics in 2002 and has contributed to genetic discoveries in various conditions. He is currently leading the Clinical Sequencing effort at deCODE.

PRESENTER

Elin Thysell

PRESENTER

Giske Ursin

Giske Ursin, MD, PhD is the director of the Cancer Registry of Norway. She is also Professor II at the Department of Basic Medical Sciences at the University of Oslo, and Professor Emerita at the Department of Preventive Medicine, University of Southern California, USA. The Cancer Registry of Norway is a research institution that administers the cancer registry, clinical cancer registries, the screening programs on cancer and a number of research biobanks. Dr. Ursin’s research is in cancer epidemiology, both classical epidemiologic studies, clinical studies and studies of various molecular markers, in particular in breast cancer, including studies of women with BRCA mutations.

She has previously chaired the Scientific Council of the International Agency for Research on Cancer, and has also chaired the National Cancer Institute (NCI) Cohort Consortium Steering Group. Ursin is a member of the Norwegian Academy of Sciences.

PRESENTER

Marc Vaudel

Marc Vaudel is a scientist at the Center for Diabetes Research, Department of Clinical Science, University of Bergen, and at the Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, both in Bergen, Norway. His research focus is the combination of genetic, signalling, and rich phenotypic information to provide better understanding of disease mechanisms. His expertise is the analysis of large cohorts and publicly available data sets. Dr. Vaudel has strong interests in knowledge sharing and education while trying to make his work open and documented.

Mentor

Thomas Werge

Thomas Werge is an expert in the genetics underlying psychiatric disorders. In addition to his affiliation with the University of Copenhagen, he is head of the Institute of Biological Psychiatry, Mental Health Services, Capital Region of Denmark.

Presenter

Elisabeth Widén

Dr. Elisabeth Widén is a physician by training, with an interest in genomics and the genetic contribution to complex diseases. Dr Widén initially focused her research on puberty and the genes that influence this process. In recent years, however, Dr Widén’s interest has now shifted towards implementing genomic research into medical practice.

Group’s focus at the moment is the GeneRISK study. Dr. Widén worked with Professor Samuli Ripatti to set up the study in 2015 and recruit a cohort of around 7,300+ people from southern Finland. The cohort is unique as the participants consented to receive personal cardio-vascular disease risk information back from the study. The cohorts’ risk information was interpreted and communicated using an interactive web tool developed for this purpose, called KardioKompassi.  GeneRISK as a study is still ongoing. and the first follow-up round has been completed.

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