Dr Louise Bicknell, Department of Pathology, University of Otago
Genetic insights into human brain and body development
We are interested in how genetic variation in our genomes influences our development and lifetime health, with a particular focus on rare Mendelian disorders of brain and body growth. We use exome and genome sequencing of NZ and overseas patients as a starting point to identify and characterise candidate disease-causing variants using a variety of molecular biology techniques. Our studied conditions are “one-in-million”, so we rely heavily on international collaborations to strengthen our genetic evidence.
In this seminar I will give an overview of the different research projects we are undertaking, linking together the clinical, genetic and molecular knowledge we have gained from our study of human genetic syndromes. Particular emphasis will be on our long-term study on Meier-Gorlin syndrome and DNA replication, and our more recent research into NZ families with microcephaly (reduced brain size), where we have discovered novel disease genes such as a splicing component, and histones.
