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Research group/lab  |  Principal Investigator: Geeske M. van Woerden, PhD

Understanding the role of CAMK2 in neurodevelopment and neurodevelopment disorders

Our lab consists of a small group of dedicated people, all working together as a team to understand rare neurodevelopmental disorders and identify treatments.

About our research group/lab

Our research

Calcium-calmodulin dependent protein kinase type II (CAMK2) is among the most extensively studied proteins in the brain, shown to be critically important for synaptic plasticity, learning and memory formation. Impaired CAMK2 signaling has been implicated in multiple neurological disorders, including Angelman Syndrome, Fragile X and Alzheimer’s disease. In collaboration with other labs using whole-exome sequencing in children with neurodevelopmental disorders, our lab recently identified a multitude of de novo missense mutations in CAMK2, indicating that mutations in the CAMK2 genes themselves can cause neurodevelopmental disorders. However, how the identified missense mutations cause dysfunction of CAMK2, its down-stream signaling pathways and ultimately neurodevelopment is largely unknown, since most of our knowledge of CAMK2 neurobiology has focused on the function of CAMK2 in the adult brain.
Our lab aims to investigate the function of CAMK2 in neurodevelopment and its role in neurodevelopmental disorders, using a multidisciplinary approach of molecular biology, electrophysiology and behavior. Additionally, our lab will make use of the exciting novel iPSC technology combined with the CRISPR/Cas9 technique, to study the effect of the CAMK2 mutations on human neurons. Taken together, these findings will provide new insights in the fundamental CAMK2 signaling processes that underlie normal brain development, and will lead to a better comprehension of how CAMK2 is involved in the etiology of neurodevelopmental disorders. Finally, making use of the functional genomics screen we have been developing together with the Elgersma lab in the last years, PRiSM (Pipeline of Rapid in vivo and in vitro Screening of Mutations), functional genomics we aim to create a platform for functional genomics studies to assess the pathogenicity of mutations identified in CAMK2 and its down-stream effectors in individuals with a neurodevelopmental disorder.

Collaborations

Our lab works very closely with the lab of Prof. Elgersma on PRiSM, and on the development of personalised treatments.

Our lab is part of the Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), within which the CAMK2 – GRI expertise center is lead by Dr. Danielle Veenma, with whom we closely collaborate on the CAMK2 and GRI disorders.

Our lab works closely together with the lab of Dr. Femke de Vrij on iPSC-derived models of rare neurodevelopmental disorders.

Our lab works closely together with the lab of Maria Alves on understanding the GI-tract problems seen in CAMK2 children.

Our lab works closely together with Dr. Mario Negrello on building a computational neuronal network.

Collaboration outside of Erasmus MC

Our lab is part of the Neuromedicine Flagship, where my lab is closely connected to the lab of Dr. Dimphna Meijer, with whom we share a PhD student.

Our lab is closely collaborating with Dr. Margaret Stratton from UMASS (Strattonlab) on understanding the basic regulation and mechanism of CAMK2.

Funding & Grants

Current Grants:  

Hersenstichting: op weg naar genezing (2023)

Dioraphte (2024)

 

Our team

Charlotte de Konink (Labmanager)

Jaime Borregon Jimenez (PhD student)

Angelica Casotto (PhD student)

Kayla Glossip (Technician)

Maike Hinrichs (Research Master Student)

Lorena Boetius Novotny (Research Master Student)

Ilse de Schipper (intern)

Jorinda Nieuwenhuijse (intern)

Related

Departments and research centers

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Clinical genetics