Advisory Board and Editors Medical Genetics

Anaïs Baudot

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'm 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.

Joanna L Elson

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 C. Etchevers

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.

D. Gareth Evans

Has published 484 peer reviewed research publications; 182 as first or senior author, with over 100 on neurofibromatosis. Lead 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


Uta Francke

Uta Francke is Professor of Genetics and Pediatrics, Emeritus, Stanford University School of Medicine. Past President, American Society of Human Genetics; Past President, International Federation of Human Genetics Societies; March of Dimes/Colonel Harland Sanders Lifetime Achievement Award in Genetics. Recipient of the William Allan Award of the American Society of Human Genetics. Senior Medical Director, 23andMe, Inc.

Daniel Pomp

Professor of Genetics and Nutrition at UNC Chapel Hill. Member of the Carolina Center for Genome Sciences and the Lineberger Comprehensive Cancer Center. Co-Founder of GeneSeek, the world's largest animal agricultural genotyping provider. Recipient of the 2012 Governor's Bioscience award (Bio Nebraska).

Danielle Posthuma

Fenna Diemer Lindenbaum Chair in Statistical Genetics; VU University & VU University Medical Centre, Amsterdam, The Netherlands; Executive Board Member Dutch IPSc Center; Director of Genetic Cluster Computer; Elected Member Young Academy of Netherlands Royal Society of Arts and Sciences.

Iris Schrijver

Stanford University

Iris Schrijver, M.D. holds specialty certification in Clinical Molecular Genetics and Clinical Pathology. She directs the diagnostic Molecular Pathology laboratory at Stanford University Medical Center and Lucile Packard Children's Hospital. Her research interests include the genetic basis and genotype-phenotype correlations in cystic fibrosis and hereditary hearing loss, and the development and application of diagnostic innovations.

Charles E. Schwartz

Director of Research, Greenwood Genetic Center; Adjunct Professor of Biology, University of South Carolina; Adjunct Professor, Department of Genetics and Biochemistry, Clemson University; Director, American Board of Medical Genetics, 2006-2011 and President 2009; Robert Guthrie Award for Advances in Biochemical and Molecular Genetics, 2003.

Monika Stoll

Professor of Genetic Epidemiology at the Medical Faculty and Director of the Leibniz-Institute for Arteriosclerosis Research at the University of Muenster, Germany. Former Associate Editor of Physiological Genomics, Academic Editor of PLoS ONE. Main research interests: Genetics of complex disease traits, in particular cardiovascular and inflammatory diseases; comparative genomics, evolutionary medicine.

I. Karen Temple

Prof of Medical Genetics, Deputy Director of Human Development and Health in the Faculty of Medicine, University of Southampton. Clinical Consultant at the Wessex Clinical Genetics Service, University Hospital Southampton. Former President of the Clinical Genetics Society.