1) the development of the human embryo. To understand how embryogenesis proceeds, we investigate inherited
disorders that cause birth defects.
2) genetic orphan diseases. To gain understanding of biological processes as diverse as cancer, cognition, development, sleep or ageing, we investigate familial cases that show extreme example for these traits. Concretely to uncover genes preventing ageing, we will study patients that age prematurely or to understand hair growth we will focus on people with no hair (alopecia) or too much hair (hypertrichosis).
Once we have uncovered the genetic variant responsible for a given
disease or trait, we make use of patient's cells and animal models to
examine the trait's aetiology or disease pathogenesis.
One of our objectives is to understand how human identical twins
are formed. Known as monozygotic (MZ), identical twins arise
when two babies develop from one embryo. Truly monoclonal