BBB seminar: Stefan Johansson
Riding the wave of the genomics revolution
KGJ Center for Diabetes Research, KGJ Center for Neuropsychiatric Disorders, Department of Clinical Science, University of Bergen, and Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen
In this talk, I will discuss how a decade of technological and analytical advances in the genomics field has made it possible to shed light on the genetic underpinnings of previously unsolvable genetic syndromes and more common complex disorders, and how these advances now are being implemented as routine diagnostics at the Center for Medical Genetics and Molecular Medicine (MGM) at Haukeland University Hospital. I will illustrate these advances through examples from over 10 years of research at the KGJ Center for Diabetes Research, the KGJ Center for Neuropsychiatric Disorders and the MGM. Results that will be discussed include identification of previously unknown causes of diabetes, disorders of abnormal development, clinical routine exome sequencing, and ongoing studies in the Norwegian Mother and Child Cohort to understand the genetics behind infant and childhood weight development.
Chairperson: Jan Haavik, Department of Biomedicine