Speaker Profiles 2019-01-10T16:33:54+00:00

Meet our confirmed conference speakers for this year’s conference and find out more about their background and work.

John C. Achermann
John C. AchermannWellcome Trust Senior Research Fellow
John C. Achermann is a Wellcome Trust senior researcher and he is working for UCL GOS Institute of Child Health in London, United Kingdom.
Principal interest(s): Human adrenal and reproductive biology, nuclear receptors, transcriptomics
Area(s) of research: Adrenal and gonad development, somatic regulation of development, sex differences

Chloé-Agathe Azencott
Chloé-Agathe AzencottResearch Faculty
Chloé-Agathe Azencott is working in the research faculty at MINES ParisTech & Institut Curie in Paris, France.
Principal interest(s): Machine learning for genomics and precision medicine
Area(s) of research: Machine learning, GWAS, network biology
Keith Baggerly
Keith BaggerlyProfessor, Bioinformatics and Computational Biology
Keith Baggerly is a professor, bioinformatics and computational biologist at the UT MD Anderson Cancer Center in Houston, TX, USA.
Principal interest(s): Bioinformatics, Experimental Design, Reproducible Research
Area(s) of research: Bioinformatics, Experimental Design, Reproducible Research
Camille Berthelot
Camille BerthelotCR at INSERM - French National Institute of Health and Medical Research
Camille Berthelot is working as a CR at INSERM – French National Institute of Health and Medical Research in Paris, France.
Principal interest(s): Functional and evolutionary genomics of vertebrates
Area(s) of research: Evolution of transcriptional regulation, evolutionary innovations in mammalian lineages, mutational mechanisms and patterns

Diana Bianchi
Diana BianchiAdjunct Investigator
Diana Bianchi is a adjunct investigator at the National Institutes of Health, NHGRI in Bethesda, MD, USA.
Principal interest(s): Reproductive genomics
Area(s) of research: Prenatal testing, prenatal treatment of down syndrome
Agnes Bloch-Zupan
Agnes Bloch-ZupanProfessor in Oral Biology
Agnes Bloch-Zupan is a professor in oral biology at the Université de Strasbourg, Faculty of Dentistry, at the Hôpitaux Universitaires de Strasbourg, Reference Center for Rare oral and dental diseases and at IGBMC (Institute of Genetics and Molecular and Cellular Biology) in Strasbourg, France.
Principal interest(s): Rare oral and dental diseases
Area(s) of research:  Orodental development and anomalies, genetics, omics, human, mouse models
Laurence Boon
Laurence BoonProfessor/Coordinator of the Multidisciplinary Center for Vascular Anomalies/Plastic Surgeon
Laurence Boon is a professor at the cliniqual university Saint-Luc and at the university catholique de Louvain as well as a coordinator of the Multidisciplinary Center for Vascular Anomalies/Plastic Surgeon in Brussels, Belgium. She is also a member of the Royal Belgian Academy of Medicine and is chairing an application for a European Reference Networking on Vascular Anomalies (VASCern).
Principal interest(s): Specialist in the Vascular Anomalies field
Area(s) of research: Interested in elucidating the pathophysiology of the vascular anomalies & phase I and II clinical trials of new medications
Judith Breuer
Judith BreuerProfessor of Virology, Director of Infection and Immunity
Judith Breuer is a professor of virology and a director of infection and immunity at the University College London in London, United Kingdom.
Principal interest(s): Pathogen genomics, metagenomics for pathogen identification, herpesvirus pathogenesis
Area(s) of research:NGS for identification of pathogens , understanding spread and transmission of norovirus pandemics, within host viral evolution and disease pathogenesis
Laura Cancedda
Laura CanceddaSenior Researcher
Laura Cancedda is a senior researcher at the Istituto Italiano di Tecnologia & Istituto Dulbecco Telethon in Genova, Italy.
Principal interest(s): Neurodevelopment and developmental disorders

Piero Carninci
Piero CarninciDeputy Director
Piero Carninci is a deputy director at the RIKEN Center for Integrative Medical Sciences in Yokohama, Japan.
Principal interest(s): FANTOM, Human Cell Atlas, Single cell genomics
Area(s) of research: Transcriptomics, Genomics
Anna Ceresto
Anna CerestoProfessor
Anna Ceresto is a professor, and a Group Leader for Molecular Virology Lab, in the Centre for Integrative Biology (CIBIO) at the University of Trento (Italy)
Principal interest(s): the precision tools for genome editing (viral and non-viral vectors and CRISPR/Cas derived nucleases).
Area(s) of research: her main area of research is the Molecular Biology.

Emmanuelle Charpentier
Emmanuelle CharpentierDirector, Department of Regulation in Infection Biology, Max Planck Institute for Infection Biology
Emmanuelle Charpentier is the director of the department of regulation in infection biology in the Max Planck institute for infection biology in Berlin, Germany.
Principal interest(s): Regulation of processes in infection and immunity
Area(s) of research: Microbiology, Biochemistry, Genetics, Infection Biology
Alta Charo
Alta CharoWarren P. Knowles Professor Law
Alta Charo is working for the University of Wisconsin in Madison, WI, USA.
Principal interest(s): Bioethics and Law
Michael Cheetham
Michael CheethamProfessor
Michael Cheetham is a professor at the UCL Institute of Ophthalmology in London, United Kingdom.
Principal interest(s): Mechanisms of retinal degeneration
Area(s) of research: Inherited disease, stem cell biology, animal models, cell biology of protein folding, protein traffic, RNA processing
Victor Corces
Victor CorcesProfessor
Victor Corces is a professor at the Emory University in Atlanta, GI, USA.
Principal interest(s): Epigenetics
Area(s) of research: 3D organization of the chromatin and its relationship to transcription
Fabrizio d Adda di Fagagna
Fabrizio d Adda di FagagnaPrincipal Investigator
Fabrizio d’Adda di Fagagna is a principal investigator who is working for IFOM & IGM-CNR in Milan and Pavia in Italy.
Principal interest(s): DNA damage Response and Cellular Senescence
Area(s) of research:  Cellular aging processes
Elfride De Baere
Elfride De BaereProfessor
Elfride De Baere is a professor at the at the Center for Medical Genetics at Ghent University and Ghent University Hospital in Ghent, Belgium.
Principal interest(s): Molecular and physiopathological basis of rare monogenic diseases, ophthalmic genetics, developmental genetics and gene regulation.
Area(s) of research: Human molecular genetics and medical genomics
Christel Depienne
Christel Depienne Professor
Christel Depienne is a professor at the institution for human genetic at the university Essen in Essen, Germany.
Principal interest(s): Genetic basis of neurodevelopmental disorders
Area(s) of research: Brain malformations (agenesis of the corpus callosum), mirror movements, epileptic encephalopathy, intellectual disability, autism spectrum disorders
Diane Dickel
Diane DickelResearch Scientist
Diane Dickel is a research scientist at the Lawrence Berkeley National Lab in Berkeley, CA, USA.
Principal interest(s): Role of noncoding sequence variants in human disease, psychiatric genetics
Area(s) of research: Gene regulation
William Dobyns
William DobynsProfessor of Pediatrics (Genetics) and Neurology and Principal Investigator
William Dobyns is a professor of pediatrics and neurology at the university of Washington and a principal investigator at the center for integrative brain research at Seattle children’s research institute in Seattle, WA, USA.
Principal interest(s): nature and causes of many human developmental brain disorders, disorders of brain size (microcephaly and megalencephaly), brainstem and cerebellar malformations, intellectual disability, autism, and early childhood epilepsies
Emma Farley
Emma FarleyAssistant Professor
Emma Farley is an assistant professor at the UC San Diego, in San Diego in the United States of America.
Principal interest(s): Regulation of gene expression during development and disease.
Area(s) of research: Enhancers, non coding genome, development, disease, high-throughput functional genomics approaches.

Helen Firth
Helen FirthConsultant Clinical Geneticist, Cambridge & Hon Faculty Member Wellcome Sanger Institute
Helen Firth is a consultant clinical genetics at the Cambridge University Hospitals and a hon faculty member of the Wellcome Sanger Institute in Cambridge, United Kingdom.
Principal interest(s): Clinical genomics & Mapping the clinical genome
Area(s) of research: Paediatric genomics & data-sharing
Andrew Forge
Andrew ForgeEmeritus Professor of Auditory Cell Biology
Andrew Forge is an meritus professor of auditory cell biology at the university college London, United Kingdom.
Principal interest(s): Structural organisation, development and pathology of the cochlea and vestibular system of the inner ear
Area(s) of research: Repair mechanisms and regeneration in the sensory epithelia of the inner ear; maintenance of cochlear homeostasis; biological responses to cochlear implantation
William A. Gahl
William A. GahlClinical Director, NHGRI
William A. Gahl is a clinical director at the National Institutes of Health, NHGRI in Bethesda, MD in USA.
Principal interest(s): Rare and Undiagnosed Diseases
Area(s) of research: Cystinosis, New Disease Discovery
Henk-Jan Guchelaar
Henk-Jan GuchelaarChair Dept. Clinical Pharmacy & Toxicology, Professor of Clinical Pharmacy
Henk-Jan Guchelaar is a chair at the department for clinical pharmacy and toxicology and a professor of clinical pharmacy at the Leiden University Medical Center in Leiden, the Netherlands.
Principal interest(s): Personalised Therapeutics, Oncology
Area(s) of research: Personalised Therapeutics
Jan Hoeijmakers
Jan HoeijmakersProfessor Doctor
Jan Hoeijmakers is a professor at Erasmus MC at the department of molecular genetics in Rotterdam, the Netherlands.
Principal interest(s): DNA damage, repair, genome instability, cancer, aging
Area(s) of research: Molecular genetic, cell biology, mouse models, human disease
Björn Högberg
Björn HögbergAssociate professor
Björn Högberg is an associate professor at the Karolinska Institute in Stockholm, Sweden.
Principal interest(s): his main interests are the DNA tools and nanostructures for cell biology.
Area(s) of research: the DNA nanotechnology and the DNA probes.

Matthew Hurles
Matthew HurlesHead of Human Genetics and Senior Group Leader
Matthew Hurles is the head of human genetics and the senior group leader at the Wellcome Sanger Institute in Hinxton, United Kingdom.
Principal interest(s): Genetic causes of developmental disorders, germline mutation processes
Philip Jones
Philip JonesProfessor
Philip Jones is a professor at the Welcome Sanger Institute in Hinxton and Cambridge, in the United Kingdom.
Principal interest(s): Somatic mutation in normal tissues

Ophir Klein
Ophir KleinProfessor and Chief, Divisions of Genetics and Craniofacial Anomalies
Ophir Klein is a professor at the university in San Francisco, CA, USA.
Principal interest(s): Developmental genetics and stem cell biology
Area(s) of research: Craniofacial and gastrointestinal epithelial development and renewal
Arne Klungland
Arne KlunglandProfessor Oslo University
Arne Klungland ist a professor at the Institute of Medical Microbiology, BIG CAS-OSLO Genome Research Cooperation, Oslo University Hospital, Rikshospitalet, Oslo 0027, Norway
Csilla Krausz
Csilla KrauszAssociate Professor
Csilla Krausz is an associate professor at the university of Florence at the department for experimental and clinical biomedical sciences in Florence, Italy.
Principal interest(s): Genetics of male infertility; reproductive endocrinology
Tuuli Lappalainen
Tuuli Lappalainen Assistant Professor
Tuuli Lappalainen is an assistant professor at the New York Genome Center and Columbia University in New York, NY, USA.
Principal interest(s):
Area(s) of research:
Lawrence C. Layman
Lawrence C. LaymanRobert B. Greenblatt, M.D. Chair in Endocrinology; Chief, Sect of Reproductive Endocrinology, Infertility, & Genetics
Lawrence C. Layman is a M.D. Chair in Endocrinology, a Chief and a Sect of Reproductive Endocrinology, Infertility, & Genetics. He is working at the Medical College of Georgia at Augusta University in Augusta, GI, USA.
Principal interest(s): Disorders of puberty, infertility, developmental disorders of the reproductive tract
Area(s) of research: Genetics of puberty and Mullerian development
Marc Lecuit
Marc LecuitProfessor, Head of Unit
Marc Lecuit is a professor and the head of unit at the institut pasteur in Paris, France.
Celine Lewis
Celine LewisSenior Social Scientist, Research Fellow
Celine Lewis is a senior social scientist at Great Ormond Street Hospital for children and a Health Education England Research Fellow in London, United Kingdom.
Principal interest(s): Clinical, social and ethical issues associated with translating genetic and genomic technologies into clinical practice
Area(s) of research: Prenatal testing and diagnosis, particularly non-invasively. Use of whole genome sequencing for patients with rare diseases. Patient decision-making, facilitating informed consent, development of educational materials.
José Antonio López-Escámez
José Antonio López-Escámez MD/PhD Principal Investigator Genyo
José Antonio López-Escámez is a MD/PhD principal investigator at the Center for Genomics and Oncology Research (Genyo) in Granada, Spain.
Principal interest(s): Genetics of Meniere disease
Area(s) of research: Genomics of vestibular disorders
Emma Lundberg
Emma LundbergAssociate Professor
Emma Lundberg is an associate professor in Stockhol, Sweden.
Principal interest(s): Spatial single cell biology
Area(s) of research: Proteomics, spatial single cell biology and citizen science
Outi Mäkitie
Outi MäkitieProfessor of Pediatric Endocrinology
Outi Mäkitie is a professor of pediatric endocrinology at the University of Helsinki in Helsinki, Finland.
Principal interest(s): Pediatric bone diseases
Area(s) of research: Clinical and genetic studies on metabolic bone diseases in children
Alfonso Martinez Arias
Alfonso Martinez AriasProfessor of Developmental Mechanics
Alfonso Martinez Arias is a professor of developmental mechanics at the department of genetics at the university in Cambridge, United Kingdom.
Principal interest(s): Interested in the way signalling and transcription factors networks ‘create’ organs and tissues. We use an interdisciplinary approach that combines experimental and computational methods within the context of stem cell based synthetic systems.
Area(s) of research: dcvelopmental/stem cell biology and bioengineering
Mark McCarthy
Mark McCarthyProfessor of Diabetic Medicine
Mark McCarthy is a professor of diabetic medicine at the University of Oxford in Oxford, United Kingdom.
Principal interest(s): Identification of genetic variants contributing to development of type 2 diabetes and related conditions; and use of that information to deliver biological insights and translational opportunities
Area(s) of research: Human genetics & genomics; translational medicine
Shoukhrat Mitalipov
Shoukhrat MitalipovDirector of the Center for Embryonic Cell and Gene Therapy
Shoukhrat Mitalipov is a director of the Center for Embryonic Cell and Gene Therapy at the Oregon Health and Science University in Portland, OR, USA.
Dr. Mitalipov is known for his leading discoveries in producing human patient-matched embryonic stem cells using somatic cell nuclear transfer. His team has also pioneered a gene therapy approach that prevents transmission of genetic defects in mitochondrial genes from mothers to their children.

Area(s) of research:

Luigi Naldini
Luigi NaldiniDirector
Luigi Naldini is a director at the San Raffaele Telethon Institute for GeneTherapy (SR-Tiget) in Milan, Italy.
Principal interest(s): Gene Therapy, Tumor Angiogenesis
Mats Nilsson
Mats NilssonProfessor
Mats Nilsson is a professor at the Stockholm University in Stockholm, Sweden.
Principal interest(s): Molecular analysis technology
Kelly Ormond
Kelly OrmondProfessor
Kelly Ormond is a professor in the department of genetics and Stanford center for biomedical ethics at the Stanford university school of medicine in Stanford, CA, USA.
Principal interest(s): Ethics, Genetic Counseling
Area(s) of research: Ethics, Genetic Counseling, Translational Research
Madalina Radu
Madalina RaduResearcher, Genetic counselor
Madalina Radu is a researcher and a genetic counselor in the department of Psychology, at the Babes-Bolyai University in Romania.
Principal interest(s): Madalina Radu is interested in genetic counselling and psychotherapy.
Area(s) of research: Her areas of research are the genetic counselling:
-for children and adolescents,
-for families with children with genetic disorders,
-for mental health problems.

Mark J. Ratain
Mark J. RatainProfessor
Mark J. Ratain is a professor at the university in Chicago, IL, USA.
Principal interest(s): Pharmacogenomics, individualized anticancer therapies
Area(s) of research: pharmacogenomics, New oncology drugs, diagnostics, clinical trial methodology, phase I clinical trials
Agnès Rötig
Agnès Rötig Research Director at INSERM
Agnès Rötig is a research director at INSERM in Paris, France.
Principal interest(s): Mitochondrial disorders
Area(s) of research: Genetics
Jean-Michel Rozet
Jean-Michel RozetDirector of Research, Scientific Director of the Laboratory Genetics in Ophthalmology (LGO) at Imagine, the Institute of genetic diseases
Jean-Michel Rozet is a director of research at the national institute of health and medical research (INSERM) and a scientific director of the laboratory genetics in ophthalmology at Imagine in Paris, France.
Principal interest(s): Earliest and most severe retinal dystrophies and optic neuropathies. Rare inborn errors of eye development
Area(s) of research: Genetics: Molecular and physiopathological bases of rare monogenic diseases
Neville Sanjana
Neville Sanjana Core Faculty (NY Genome), Assistant Professor (NYU Biology)
Neville Sanjana is an assistant professor and in the core faculty at the New York Genome Center and NYU in New York, NY, USA.
Principal interest(s): Genome engineering, functional genomics
Area(s) of research: New York Genome Center and NYU
Alexander Schier
Alexander Schier Professor
Alexander Schier is a professor at Harvard university in Cambridge, MA, USA.
Principal interest(s): Development, behavior
Area(s) of research: Embryogenesis, sleep
Heribert Schunkert
Heribert SchunkertProfessor for Cardiology, Director of the Cardiology Department
Heribert Schunkert is a professor for cardiology and the director of the cardiology department at the German Herat Centre Munich in Munich, Germany.
Principal interest(s): Coronary heart disease / myocardial infarction
Prof. Schunkert conducts research in molecular biology and genetics of multifactorial cardiovascular disease. In his initial scientific career he focused on the functional implications of tissue renin-angiotensin systems. His current major topic is to identify and functionally characterize the genetic roots of myocardial infarction.
Roy Sheppard
Roy Sheppard Conference facilitator and speaker
Roy Sheppard is a conference facilitator and speaker in Bath, United Kingdom.
Principal interest(s): Communication and career development for millennials

Isabel Silveira
Isabel SilveiraGroup Leader
Isabel Silveira is a group leader at the IBMC and i3S, University of Porto in Porto, Portugal.
Principal interest(s): Genetics of neurodegenerative diseases
Area(s) of research: Identification of genes and molecular mechanisms in neurodegenerative diseases
Andrew Sinclair
Andrew SinclairDeputy Director and Professor
Andrew Sinclair is a deputy director and professor at the Murdoch Children’s Research Institute in Melbourne, Australia.
Principal interest(s): Sex Development and Disorders
Area(s) of research: Genomics and Stem Cell Medicine
Giulia Siravegna
Giulia SiravegnaPost-Doctoral Research Follow
Giulia Siravegna is a post-doctoral research follow at the Candiolo Cancer Institute, in Italy.
Principal interest(s): Cancer Genetics and Liquid Biopsy
Area(s) of research: her main area of research is Oncology

Damian Smedley
Damian Smedley Senior Lecturer, QMUL and Director of Genomic Interpretation, Genomics England
Damian Smedley is a senior lecturer at the Queen Mary University of London and a QMUL and a director of genomic interpretation at Genomics England in London, United Kingdom.
Principal interest(s): The use of clinical and model organism phenotype data in clinical diagnosis and gene discovery in human disease patients
Area(s) of research: Computational Biology, Variant Interpretation, Ontologies
Michael Speicher
Michael SpeicherProfessor of Human Genetics
Michael Speicher is a professor of human genetics at the Medical University of Graz in Graz, Austria.
Principal interest(s): Human Genetics
Area(s) of research: Hereditary tumor syndromes and liquid biopsies
Fran Supek
Fran SupekGroup Leader
Fran Supek is a group leader at the institute for research in biomedicine (IRB Barcelona) in Barcelona, Spain.
Principal interest(s): Mutation and selection in somatic cells
Area(s) of research: Computational genomics
Giuseppe Testa
Giuseppe TestaProfessor of Molecular Biology and Head of the Laboratory of Stem Cell Epigenetics
Giuseppe Testa is a professor of molecular biology at the University of Milan and head of the laboratory of stem cell epigenetics at the European Institute of Oncology in Milan, Italy.
Area(s) of research: Disease modelling; Neurodevelopmental disorders; Cancer; Epigenetics; Organoids; Single-cell deconvolution of human disorders
Aad Tibben
Aad TibbenEmeritus Professor Psychology of Clinical Genetics; psychotherapist
Aad Tibben is a Emeritus Professor Psychology of Clinical Genetics and a psychotherapist at the Leiden University Medical Centre, Dept. Clinical Genetics in Leiden, The Netherlands.
Prinicpal interest(s): Psychological and existential issues in individuals and family systems facing heredity; genetic counselling
Area(s) of research: Psychology of predictive genetic testing;
Bas Van Steensel
Bas Van SteenselResearch Group Leader
Bas Van Steensel is a research group leader at the Netherlands Cancer Institute in Amsterdam, the Netherlands.
Principal interest(s): Chromatin Genomics
Miikka Vikkula
Miikka VikkulaProfessor of Human Molecular Genetics
Miikka Vikkula is a professor of human molecular genetics at the de Duve Institute in Brussels, Belgium.
Principal interest(s): Understanding the molecular mechanisms that underlie a variety of disorders of the cardiovascular and skeletal systems, as well as certain cancers. We specialize in evaluating the contribution of genetic variation to human disease and in vivo studies using genetically manipulated mice. Also interested in developing novel therapeutic approaches.
Area(s) of research: Our laboratory combines a large bio-bank of patient blood and tissue samples associated with extensive clinical data, with large-scale genotyping data generated using cutting-edge Next Generation Sequencing techniques and a state-of-the-art data analysis pipeline developed in-house. Gene-discovery is followed by the generation of cell and animal models in which disruption of the culprit gene is used to recapitulate features of the human disease. These models are then used to study the molecular and biological consequences of disease causative genetic changes, as well as to test potential therapeutic solutions. All of our research begins with samples obtained from patients, and we aim to go full circle: from bed to bench-side back to bed, providing patients with viable and tangible knowledge-based improvements in their health-care.
Principal interest(s):
Area(s) of research: 
Robert A. Waterland
Robert A. WaterlandAssociate Professor
Robert A. Waterland is a associate professor at the Baylor College of Medicine, USDA/ARS Children’s Nutrition Research Center in Houston, TX, USA.
Principal interest(s): Developmental epigenetics and human disease
Thomas Wurdinger
Thomas WurdingerProfessor
Thomas Wurdinger obtained his PhD in virology and gene therapy at Utrecht University, Utrecht, The Netherlands. After that he moved to Boston, USA to start his postdoc period as a research fellow at Massachusetts General Hospital and Harvard Medical School under the guidance of Prof. dr. X.O. Breakefield and Prof. dr. R. Weissleder. He has a position as professor at VU University Medical Center and Cancer Center Amsterdam, The Netherlands. He is co-founder of thromboDx BV and Exbiome BV.