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

Marguerite Evans-Galea

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.


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.

Jose MG Izarzugaza

Associate Professor at the Technical University of Denmark (DTU). As a senior scientist in Prof. Søren Brunak's group at the Center for Biological Sequence Analysis (CBS), I have a profound interest in different aspects of next generation sequencing (NGS) data analysis. This covers a broad spectrum of scenarios and applications. Actively involved in the Genome Denmark initiative, with two main goals: to assemble and annotate the first draft of the Danish reference genome and to identify viruses driving cancer.Other current projects include the prediction of the pathogenicity of mutations in the protein kinase superfamily for the TCGA/ICGC Pancancer initiative.

Andres Metspalu

Andres Metspalu, professor of Biotechnology and Director of the Estonian Genome Center of the University of Tartu, M.D. 1976, Ph.D. 1979. He was as IREX fellow at Colombia University and Yale University in 1981-1982.

His main scientific interests are human genetics and genomics, biobanking, genetics of complex diseases, precision. He has more than 300 papers and chapters (

He worked at EMBL, Heidelberg (1985 as a FEBS fellow), at MPI Molecular Genetics in W-Berlin (1988 as an EMBO fellow) and at University of Hamburg (1990-1991) as a DAAD fellow and with the support of EC. In 1993-1994 he was at Baylor College of Medicine, Houston, as a visiting faculty (with Dr. T. Caskey), in 2000 at IARC (Lyon) as a recipient of the International Visiting Senior Scientist Award and as a visiting fellow in CIG of University of Lausanne in 2012. From 1996 to 2008 A. Metspalu was also the head (and founder) of the Molecular Diagnostic Center of the Tartu University Hospital. Metspalu is the past (2006) president of the European Society of the Human Genetics. He is one of the founders of the P3G Consortium of Biobanks and BBMRI-ERIC. He is the member of the Science Europe Medical Committee. He has supervised more than 20 Ph.D. theses. He is serving in several national and international committees, 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.

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.