ABSTRACT
I think of myself as a functional biologist - someone driven to discover how living things work and what they are capable of at molecular level. Cells and organisms, however, are anything but simple: they are vast, intricate systems with countless moving parts and exquisitely tuned control mechanisms. To unravel their logic, I look for the fault lines - situations when specific components are missing or fail - and try to find out what happened. Diseases and traits caused by genetic variations and mutations are well suited for this: finding the causal variant allows us to follow the chain of events from cause to consequence, revealing the hidden gears of life.
Advances in analytical and computational technologies have been my constant allies, enabling this work and - perhaps thankfully - keeping me anchored in functional biology, rather than wandering into the many other interesting questions that keep me awake at night.
ABOUT THE SPEAKER
I grew up in south-western and central Germany, where my ‘scientific’ curiosity was triggered by freshwater vertebrates – usually those too slow to escape me. After earning a graduate degree in Biology from Darmstadt University, I joined the newly formed Department of Molecular Genetics at Roche Molecular Diagnostics for my Master’s and PhD projects. Trying to avoid the ‘default’ career path, I found my dream postdoc project at the Faculty of Medicine and Health Sciences at the University of Auckland.
Inspired by the Human Genome Project, I left FMHS after seven years to pursue my interest in bioinformatics and functional biology on a genome-wide scale, joining ViaLactia Biosciences, where I eventually led the company’s genome research program. Twelve years later, I teamed up with long-time colleagues in a new quest: using genome sequencing and other emerging technologies to uncover the causes of rare diseases in individual New Zealand families. I was welcomed by the School of Biological Sciences, and later FMHS - marking the start of an exciting new chapter: working collaboratively with friends to identify the genetic basis of a wide range of conditions and to answer the most important questions: what went wrong, and how does it work?
