Margot Reijnders Autism and intellectual disabilities: the causes further unravelled
In The Netherlands, there are many children and adults with a developmental disorder such as autism and intellectual disability. But why do they have these problems?read more
Margot Reijnders Autism and intellectual disabilities: the causes further unravelledIn The Netherlands, there are many children and adults with a developmental disorder such as autism and intellectual disability. But why do they have these problems? For many of them, this was unclear for years. Bij using the newest DNA-techniques, this puzzle can be further solved. Margot Reijnders describes in her thesis several rare DNA-mistakes which finally lead to probems such as autism and intellectual disability. Some of them are special. For example, girls with mistakes in a small piece of DNA named the ‘USP9X-gene’, all look very similar. Besides that they were all born with problems such as heart abnormalities, kidney problems or an extra finger, their appearances is as they are sisters. But it also can be the opposite. An important conclusion is that, even if all children and adults have the same DNA-mistake, their problems can be very different from eachother. So, also for those people without any clearly visible abnormalities, it is worthwhile to search in the DNA for the cause of the developmental problems. And it should not be forgotten that, because these new causes are very rare, a good collaboration worldwide is crucial in this search.
PhD thesis: Neurodevelopmental disorders: a next generation.
Date, time and location PhD defense
- Date: 11 January 2019
- Time: 10.30 hrs
- Location: Radboud Universiteit, Academiezaal Aula, Comeniuslaan 2
Margot Reijnders (1989) studied Medicine at the Radboud University and obtained her medical degree in 2014. The research in this thesis was performed at the Department of Genetics of the Radboud university medical center. Currently, she is a clinical geneticist in training at the Department of Clinical Genetics of the Maastricht University Medical Center.
- Promotor: Prof. H.G. Brunner
- Co-promotors: T. Kleefstra PhD and L.E.L.M. Vissers PhD