Mendelian genetics Reversade's team works on the genetic characterization and clinical description of inherited conditions in humans. They have identified mutations responsible for
progeroid syndromes in humans,
NLRP1 inflammasome-related diseases, self-healing cancers pertaining to the self-regulation of an embryonic
morphogenetic field mediated by the extracellular
Chordin/
BMP/Sizzled pathway. Reversade also researches the genetics of
dizygotic and
monozygotic twinning in humans. In 2021, together with the
VU Amsterdam, his group revealed that MZ twins harbor an
epigenetic signature in their
somatic tissue even decades after their birth. This stable DNA mark could be employed to retrospectively assess if a person is a MZ twin even if his/her co-
twin vanished in utero.
Hormones and Micropeptides Reversade's research has also pioneered the annotation of novel
micropeptides. •
ELABELA In 2013, he discovered and patented a novel
hormone named
Elabela (ELA). This secreted circulating peptide works as an endogenous
ligand for the
Apelin receptor (a
G protein-coupled receptor). The genetic inactivation of ELA leads to
cardiovascular defects, predisposes to
preeclampsia and is needed for the self-renewal of human
embryonic stem cells. Analogues of Elabela have entered clinical trials by
Amgen. • BRAWNIN In 2020, he participated in the characterization of
C12orf73, a protein-coding gene responsible for the making of a 71 amino-acid peptide called BRAWNIN. This small peptide is essential for respiratory chain
complex III (CIII) assembly in human cells and zebrafish. • C2orf69 In 2021, together with I. Kurth and colleagues, his team identified a fatal syndrome caused by the homozygous inactivation of C2orf69. This gene codes for a 385 amino-acid peptide which can be secreted or associated with mitochondria. C2ORF69 possesses homology to esterase/lipase enzymes. ==Awards and recognition==