Our laboratory studies:

1) genetic orphan conditions whether deleterious or beneficial:

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 either age prematurely or people that do not appear to age. Once we have uncovered the genetic variant responsible for a given disease or trait, we make use of patient's cells, organoids and animal models to examine the trait's aetiology and disease pathogenesis.

2) novel hormones and their possible clinical indications:

Our genome harbors a number of putative secreted peptides that may serve as endogenous ligands to cell surface receptors such as GPCRs. Our discovery of ELABELA and RETO expand the repertoire of hitherto uncharacterized hormones, a source of druggable targets whose clinical relevance is beginning to take shape.

3) novel drug targets, from identification to validation & pre-clinical development:

From our human genetic endeavour (1) and our characterization of new ligand/receptor pairs (2), we ambition to identify novel drug targets for common diseases with unmet medical need. Once these targets are validated in vitro and in vivo, we proceed to pre-clinical drug development with pharmaceutical partners (Chugai Pharmabodies, GSK, Takeda, LaNeige, Galderma, L'Oreal, Ferring, Bayer) or on our own ;)

4) the development of the human embryo:

To understand how embryogenesis proceeds, we investigate inherited disorders that cause birth defects. 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 MZ twins are reproductive clones and yet sovereign human beings. This extraordinary mode of development is obligate in nine-banded armadillos which have MZ quadruplets each and every time they breed.