Han Brunner is Head of the Institute of Human Genetics at Nijmegen and Maastricht Medical Centers, where he pioneers genomic technologies in medical genetics. Han believes that rapid implementation of genomic technologies in Medicine is advantageous for patients, and families and can make the care for people with rare diseases more effective.
His scientific work has shown that new mutations are the main cause of intellectual disability, which led to the acceptance of exome sequencing as a first-tier test in neurodevelopmental disorders. Recently, his group established the landscape of autosomal recessive diseases in European populations.
Presentation title: Why we have the disorders we have