Stefan Barakat, PhD, MD, associate professor,  is a clinical geneticist and experimental biologist leading a research group at Erasmus MC.

His PhD at Erasmus MC led to improved  understanding of the regulation of  X chromosome inactivation during female development, amongst others by identifying the X-linked gene RNF12/RLIM as an activator this epigenetic process (Cell 2009, Nature 2012, Molecular Cell 2014).

His postdoctoral training at the University of Edinburgh (supported by EMBO, Marie Curie and Niels Stensen fellowships) focused on developing new technologies to study functionality of regulatory elements genome-wide (Cell Stem Cell 2018).

Since 2017, his group in Rotterdam (supported amongst others by ZonMw Veni and Vidi awards) focuses on deciphering the role of the non-coding genome in causing human disease (Genome Medicine 2021) and finding new causes of neurodevelopmental disorders (Acta Neuropathologica 2019, 2020, 2023, Brain 2021). His group has identified >5 new syndromes causing neurodevelopmental disorders including an epileptic encephalopathy linked to UGP2 and a form of spastic paraplegia caused by mutations in AMFR, and for both of these disorders current research lines focus on therapy development. Furthermore, his group has contributed to the discovery of >20 other genetic disorders using stem-cell and zebrafish disease modelling, recently acknowledged with an KNAW Early Career Award 2021.

In his clinical work, he focusses on patients with neurodevelopmental disorders, co-leads the cerebral overgrowth clinic within the expertise center ENCORE at Erasmus MC and heads the Discovery Unit of the clinical genetic department that aims to improve the diagnostic yield for patients with undiagnosed disease.