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.

PhD Defense Cenna Doornbos

On December 8th 2022, Cenna defended her thesis entitled “From bench to bioinformatics and back: dissecting the mechanisms that regulate cilium homeostasis”. She did such a wonderful job at  it that Ronald and Dr. Pleasantine Mill  were all smiles after the event. Naturally the day  culminated with  a lively  party.

CONGRATULATIONS

DR. DOORNBOS!!!!

PhD Defense Brooke Latour

On June 16th 2022, and despite the unforeseen circumstances, our Brooke proved once again that she is an absolute rock star. Brooke defended her thesis “Primary Cilia in Brain Development and Disease” with an ease and confidence that would make many jealous. But not us! We were simply bursting with pride! The day ended with a fabulous party, lots of cheers and, of course, dancing.

CONGRATULATIONS DR. LATOUR!!!!

You can find our latest review summarizing the current knowledge in the field on the role of mitotic regulators in cilium disassembly here. (April 2021)

Cilium disassmebly is a relatively understudied process but one that is undoubtedly crucial for both cilium function and the normal progression of cell cycle. While some of the players such as PLK1, AURKA and HDAC6 have been well studied, there are many challenges ahead. Our review gives a thorough overview of the current literature and the potential impact that gaining a better understanding of cilium disassembly can contribute to the development of novel targets for cancer treatment.

PhD Defense Minh Nguyen

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On Friday 26th 2021, at 12:30 sharp, Minh Nguyen defended her doctoral thesis entitled “Systems Biology Approaches to Unravel the Molecular Mechanisms of Human Ciliopathies”. Despite being held entirely virtually, the ceremony went smoothly and Minh breezed with ease through all the manuscript committee members’ questions and rightfully earned her PhD title.

The defense was followed by a virtual zoom party with lots of present unwrapping, festive decoration and bubbly smiles from our brand new Dr.

We are all incredibly proud and happy for you Minh! Well done!!!

We are extremely proud and happy to share our latest work which was published in the Journal of Clinical Investigation showing that dysfunction of the ARMC9/TOGARAM1 module causes the classical ciliopathy Joubert syndrome. (May 2020)