Scientific Advisory Board

The Scientific Advisory Board (SAB) consists of independent experts recognised for their expertise in the field of the project. SAB members are invited to annual meetings and provide unbiased advice to help ensure RD-Connect meets its objectives.

Ségolène Aymé

Ségolène Aymé

Ségolène Aymé is a medical geneticist, founder of the Orphanet portal, and chair of the Topic Advisory Group on rare diseases at the World Health Organization. She chairs the European Union Committee of Experts on Rare Diseases and is the editor-in-chief of the Orphanet Journal of Rare Diseases. Ségolène is coordinator of the SUPPORT-IRDiRC project and is a member of the Scientific Advisory Board of RD-Connect.

Larry Hunter

University of Colorado Denver

Larry is the Director of the Center for Computational Biology and of the Computational Bioscience Program at the University of Colorado School of Medicine. His research interests lie in the development and application of advanced computational techniques for biomedicine, particularly the application of statistical and knowledge-based techniques to the analysis of high-throughput data and of biomedical texts. He is a member of the Scientific Advisory Board of RD-Connect.

Joseph Irwin

Lakeside Regulatory Consulting Services Ltd.

Joseph is a biochemist-pharmacologist and worked for many years in hospital-based research and for the pharmaceutical industry. Presently, he is an independent consultant on regulatory matters. He supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS) and focuses on rare neuromuscular diseases. Within RD-Connect, he is a member of the Scientific Advisory Board (SAB), Rare Disease Patient and Ethics Council (RD-PEC) and Patient Advisory Council (PAC).

Bartha Knoppers

McGill University

Dr Bartha Knoppers is the Director of the Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University. Her career has focused on the fields of medical law and biomedical ethics including issues of societal importance such as biobanks, stem cells, cloning, human biotechnologies, genetic research on populations, assisted reproduction, neonatal screening, pharmacogenomics, rare diseases and the future of public health. Bartha chairs the Scientific Advisory Board of RD-Connect.

Per Nilsson

Actelion Pharmaceuticals

Per Nilsson works as an independent advisor for Actelion Pharmaceuticals. He is a member of the Scientific Advisory Board of RD-Connect.

Olaf Riess

Universitätsklinikum Tübingen

Prof. Olaf Riess is the head of the Institute of Medical Genetics and Applied Genomics at the University of Tübingen and has more than 20 years of experience in genetic disorders. His group focuses on neurodegenerative diseases, from the clinical as well as the basic research perspective. In his function as Neuromics coordinator, Olaf is a member of the Scientific Advisory Board of RD-Connect.

Peter Robinson

Jackson Laboratory for Genomic Medicine

Peter leads a group at the Jackson Laboratory for Genomic Medicine developing algorithms and software for the analysis of exome and genome sequences. He is a physician by training with an interest in molecular genetics research and bioinformatics. Peter’s computational group has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. A major current focus lies in the development of algorithms for using phenotype and genotype information for diagnostics and computational biology. Peter is a member of the Scientific Advisory Board of RD-Connect.

Franz Schaefer

Universitätsklinikum Heidelberg

Franz Schaefer leads the Division of Pediatric Nephrology at the Center for Pediatrics and Adolescent Medicine of the University of Heidelberg Medical Faculty and Hospital. Franz has a 25-year track record in clinical and experimental research in paediatric kidney diseases. Franz coordinates EURenOmics, one of the RD-Connect partner projects, and is a member of the Scientific Advisory Board of RD-Connect.

Lincoln Stein

Ontario Institute for Cancer Research

Lincoln leads the Informatics and Bio-computing Platform of the Ontario Institute for Cancer Research (OICR). The platform is responsible for the management and analysis of large integrative cancer research projects including the International Cancer Genome Consortium (ICGC) and its Data Coordination Centre. Lincoln is a member of the Scientific Advisory Board of RD-Connect.