Detlef Bockenhauer is a Professor of Paediatric Nephrology at the Katholic University Leuven and head of paediatric nephrology at the University Hospital Leuven. He previously was a Professor at the UCL Department of Renal Medicine and Honorary Consultant Nephrologist and Clinical lead for the Renal Unit at Great Ormond Street Hospital for Children NHS Foundation Trust. He has studied Medicine in Germany and trained in Paediatrics and Nephrology in Hamburg, Germany, as well as at New York University and Yale University, USA. He has a special interest in tubulopathies and other genetic renal diseases and has led or contributed to the identification of numerous Mendelian disorders and disease genes. He has studied typical clinical features, as well as long-term outcome data for rare inherited renal diseases. He currently leads the European registry for dRTA at the European Rare Kidney Disease Network (ERKnet).
Presentation title: “Diagnosis of uncertain significance: the challenge of genetic variant interpretation”