Fantastic CilNetNL kick-off meeting at the UMC Utrecht on Saturday 11 November 2023!
Connecting the community and sharing of cilia science. Thanks to all participants for making it a great success!
PhD Defense Siebren Faber
On December 18th 2023, to mark the completion of a very successful year (and PhD), Siebren defended his doctoral thesis, entitled “Photoreceptor Protein Networks - towards restoring the disturbed balance in inherited retinal diseases". To say that he crushed it, would be an underestimation. Siebren sparred with the doctoral committee in the same way he appoaches everything else: with calm composure, soft smile and well-structured responses.
CONGRATULATIONS DR. FABER!!!
In April 2023, in collaboration with the lab of Dr. Olivier Mercey, Siebren published his work on the potential of gene augmentation therapy for LCA5 associated Leber Congential Amaurosis. You can read more about this work here.
An Excellent Beginning of 2023 for the Roepman Lab!
In January of 2023 within just a few days, Mariam & Cenna and Siebren published their work on the ciliary ubiquitinome and the role of PDE6D in trafficking prenylated cargo, respectively. Mariam & Cenna shared co-first authorship on a manuscript published in a special issue of Frontiers in Cell and Developmental Biology focusing on cilia homeostasis. This work established two different models to study specifically the ubiquitinated protein composition of the primary cilium and further established a role for caveolae, and more precisely CAV1, in regulating cilia length through ubiquitination. You can find the full article here.
Siebren’s work which was published in MDPI focuses on the role of PDE6D, a protein involved in the pathogenesis of Joubert Syndrome, in trafficking prenylated NIM1K and UBL3. His works demonstrates that UBL3 localizes to the photoreceptor compartment and may be implicated in sorting cargo towards the outer segment which may explain the retinal degeneration phenotypes seen in mice with mutated PDE6D. Read the paper here.