1) the development of the human embryo. To understand how embryogenesis proceeds, we investigate inherited
disorders that cause birth defects.
2) genetic orphan diseases. One way of understanding biological processes as complex as cancer, cognition, development, sleep or ageing is to investigate familial cases that show extreme example of these traits. For example, to find genes preventing ageing, you can study patients with age prematurely, to understand hair growth you may focus on people with no hair or too much hair.
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. This paves the way for
the development of effective therapies and increases our understanding of biology.
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