Reproductive Choice for mtDNA Disease

Bert (Hubert) Smeets, PhD, is Professor in Clinical Genomics with focus on Mitochondrial Diseases. He is an internationally distinguished clinical molecular geneticist. Bert studied Molecular Biology at the University of Nijmegen, where he did a PhD on myotonic dystrophy. For 10 years he worked in Nijmegen, and since 1995 at Maastricht University, where he became Professor in 2010, combining research with DNA-diagnostics. His research initially focused on inherited neuromuscular and kidney diseases, but later concentrated on the genomics of mitochondrial disorders. His research involves identifying genetic defects by next-generation sequencing, studying the pathophysiology and mtDNA bottleneck mechanism in cell lines, iPSC and zebrafish models, developing new treatment options (compounds or autologous stem cells) and preventing the transmission of mitochondrial diseases, either by prenatal diagnosis, preimplantation genetic diagnosis or whole exome preconception screening. His research is funded by national and international funding agencies and he published over 210 original research articles, reviews and book chapters.