I studied theoretical physics at Radboud University, Nijmegen. I obtained my PhD degree in 2008 under the supervision of Prof. Bert Kappen in the SNN/Machine Learning group on the subject of approximate inference algorithms and Bayesian graphical models for genetic linkage analysis (Radboud University). I then moved to the UK for a postdoc with Prof. Willem Ouwehand at the University of Cambridge and Prof. Richard Durbin at the Wellcome Trust Sanger Institute. I developed algorithms for detecting genetic variation from large scale sequencing data as a member of the 1000 Genomes Project Consortium. I also analysed exome sequencing data for rare genetic disorders and identified the underlying gene for TAR syndrome and Gray Platelet Syndrome. In 2012 I moved back to the Netherlands to start my own group. We apply functional genomics methods such as ATAC-Seq and develop statistical methods to map gene regulatory networks in iPSC-derived neurons and predict the role of genetic variants for neurodevelopmental disorders.
From 2008, Professor of General Pathology at the Department of Biomolecular Sciences (DISB) of the University of Urbino (Italy).
Member of the European TRANSAUTOPHAGY Cost Action.
I'm a Systems Biologist with a background in Biology, Genetics and Bioinformatics. I hold a PhD from the Aix-Marseille University. After a Post-Doc in the CNIO (Madrid, Spain), I got a CNRS Researcher position in 2010. I've working since then in the Marseille Institute of Mathematics (CNRS-AMU). I'm interested in -omics studies (interactomes), Networks (partitioning, boolean modelling), and questions related to human diseases, in particular complex diseases, cancers and comorbidities.
Dr. Berghout received her PhD in Biochemistry from McGill University in Montreal, QC where she researched the genetics of complex traits and susceptibility to infectious disease in humans and mouse models. Following that, she spent three years as the Outreach Coordinator for the Mouse Genome Informatics (MGI) database in Bar Harbor, ME. There, she trained researchers in genetics, genomics, data structures and data mining to answer biological questions, and worked closely with other members of the MGI group to develop and optimize the MGI resource. Now her research interests include genetics of all kinds, personalized medicine, big data, and scientific communication. She is currently pursuing projects in precision medicine for analysis of transcriptome data from patients with rare lung diseases (Sarcoidosis, Coccidiomycosis), and integrative network analysis of complex traits including Alzheimer's Disease. She is currently appointed at the University of Arizona's Center for Biomedical Informatics and Biostatistics (CB2) and The Center for Genetics and Genomic Medicine (TCG2M) in Tucson, AZ.
Dr. Glen Borchert holds joint appointments as an Assistant Professor in Biology and Pharmacology at the University of South Alabama. He originally received a B.S. in Biology from the University of Tennessee then completed a Ph.D. in Genetics from the University of Iowa. Dr. Borchert’s research focuses largely on identifying novel genetic regulators and defining their roles in oncogenesis, microbiology and speciation. Since starting his laboratory at South Alabama in August 2012, Dr. Borchert has published dozens of papers in peer reviewed journals and had numerous grant applications funded including a highly prestigious NSF CAREER award (2014-2019).
Professor of Human Genetics at the University of Utah School of Medicine;
Distinguished Professor of Human Genetics and Biology;
Nobel Prize in Physiology or Medicine 2007;
Member of the National Academy of Sciences & the European Academy of Sciences.
Recipient of many awards including the Kyoto Prize in Basic Sciences; the Albert Lasker Award for Basic Medical Research; the National Medal of Science; the Wolf Prize in Medicine; the March of Dimes Prize in Developmental Biology; and the Nobel Prize in Physiology and Medicine with Smithies and Evans.
Senior Lecturer in Biological Sciences at the University of Huddersfield, since 2015. Previously Junior Research Fellow, College Lecturer In Biochemistry and various postdocs at the University of Oxford (2013-15). Working on DNA replication, genome integrity and transcription factors in human cancers (and also in prokaryotes). Additional interests in phylogenomics and novel protein expression systems.
Founding Director of the Computational Biology Institute at George Washington University. Past Chair of the Department of Biology at Brigham Young University. PhD in Biology and Biomedical Sciences from Washington University in St. Louis.
My work considers mtDNA disease through the prism of evolution, applying a number of techniques to develop methods to identify pathogenic mtDNA mutations. I also work on the role of mtDNA population variation in common disease, inclusive of projects centred round a single disease and method development. Others papers centre on fundamentals of mitochondrial genetics including inheritance and the selective forces that have shaped mtDNA variation in modern human populations.
Heather Etchevers is a tenured developmental biologist with the French National Institute of Health and Medical Research (INSERM) in Marseille, France. She is engaged in rare disease research and advocates for rare disease community-building and information through open access to publications, scientists and physician-scientists, and other patients.
Prof. Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast cancer. He has developed a clinical service for cancer genetics in the North West Region of England. He is an important opinion leader nationally through membership of committees and was chairman of the NICE Familial Breast Cancer Guideline Development Group (2002-2010) and is now clinical lead (2011-). He lectures on hereditary breast cancer and cancer syndromes. He has developed a national training program for clinicians, nurses and genetic counsellors in breast cancer genetics and established a system for risk assessment and counselling for breast cancer in Calman breast units implemented through a training course (1998-2011).
He has published 672 peer reviewed research publications; 255 as first or senior author. He has published over 100 reviews and chapters and has had a book published by Oxford University Press on familial cancer. In the last 5 years he has raised over £35 million in grants for multicentre and local studies – approximately £31 million to Manchester. He is Chief Investigator on two (£1.59 & £1 million) NIHR program grant (2009-2014 and 2016-2020) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service.
Maggie's research is currently funded by the NHMRC and aims to develop cell and gene therapies and epigenetic biomarkers for repeat-associated neurodegenerative diseases. She has received Young Investigator Awards in Australia and the USA, and published in internationally recognized journals. A strong advocate for STEM research, Maggie communicates about science and its role in Australia’s health and economy via social and national media. In 2013, she received an Australian Leadership Award.