PhD defence L. (Lize) Meert

Below is a brief summary of the dissertation:

Autism spectrum disorders (ASDs) are brain development conditions that affect how people communicate, interact, and behave. They are fairly common, affecting about 1 in 100 people worldwide. Scientists know that both genes and the environment play a role in autism, but the exact causes are still being uncovered.
Our research focuses on better understanding the genes and molecules involved in how the brain develops, especially those that control how our DNA is used to make proteins in brain cells. We have studied three important proteins—Mediator, CHD8, and ADNP—that help control when and how genes are turned on in neural stem cells.
We found that the Mediator protein helps bring together signals from the cell to start gene activity, especially in parts of the DNA that are very active in brain development. CHD8, a gene often altered in autism, was shown to work with another complex to turn on genes that help brain cells grow and divide. ADNP, another gene linked to a rare autism-related syndrome, helps keep certain brain-related genes turned off when needed. When ADNP is missing or not working right, it leads to problems in how brain cells develop.
Because most autism cases are caused by many small genetic changes, we also used a new method to find tiny changes in DNA that may affect gene activity. These findings together could help improve autism diagnosis and, eventually, lead to new treatment approaches.