MOSA - Braindevelopment

How can we look at this?

A recent discovery has made it possible to recreate a piece of nerve tissue like the brain using 'pluripotent stem cells'. We call this 'brain organoids', which are nerve cells in 3D or 'mini-brains'.

For example, by taking a piece of skin from people with CdLS (who have a NIPBL mutation and a mosaic NIPBL mutation in particular), the researchers can "reprogramme pluripotent stem cells" from that tissue to become, for example, a heart muscle, blood stem cells, a pancreas but also nerve cells from the brain.

Making a piece of the brain in a dish

Thus, researchers can thus make brains in a dish, which they can study well for the influence of a mosaic NIPBL mutation.

Research team and supporters

NETHERLANDS

Dr. Debbie van den Berg

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Debbie is Professor - Principal Investigator of the Erasmus MC, Cell Biology

She managed to grow human brain organoids that allow us to investigate how structures of particular brain regions are formed, similar to what happens in the very early stages of a human embryo.

NETHERLANDS

Dr. Sylvia Huisman

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Sylvia is Clinical Supervisor and Trainer of the Zodiak-Prinsenstichting, Sylvia is MD PhD of the expertise centre Cornelia de Lange syndrome, Sylvia is Medical Director of the Vereniging Cornelia de Lange syndroom, Sylvia is (MD) Physician for ID, SIB & CdLS of the International Scientific Advisory Council (SAC)

She will manage the interactions with the patients/caretakers and the CdLS family organization and help to collect tissue samples.

NETHERLANDS

PhD. Mehrnaz Ghazvini

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Mehrnaz is Head iPS core facility of the Erasmus MC, iPS core facility

Mehrnaz Ghazvini and her team from the iPS core facility will derive induced pluripotent stem cells from patient samples, which we need to grow the organoids.

NETHERLANDS

PHD. Kerstin Wendt

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Kerstin is Lid van de SAC of the Vereniging Cornelia de Lange syndroom, Kerstin is Molecular Genetics Research of the International Scientific Advisory Council (SAC), Kerstin is Professor - Principal Investigator of the Erasmus MC, Cell Biology

Together, we want to understand how mutations in the NIPBL gene affect the proper development of the human brain. An important aspect is to find out how brain development is affected when only a few cells have the mutation (mosaicism).