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 for instance is to investigate familial cases that show extreme example of these traits. Concretely to uncover genes preventing ageing,you may want to study patients that age prematurely or to understand hair growth you may 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. This directly
improves our understanding of biology and paves the way for
the development of effective therapies.
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