Over the last couple of years I have been a member of the RCMM. I started in 2010 as a last year medical student from Erasmus MC Rotterdam to perform my master thesis in the clinical research group of Prof. dr. Jan Smeitink. The project, the natural disease course in carriers of the m.3243A>G mutation, was a success and I was given the opportunity to continue the research as a PhD student. Besides my work as a clinical researcher I started my training in pediatrics in the Radboudumc – Amalia children’s hospital.
Since 2010 I was able to follow an extensive cohort of carriers of the m.3243A>G mutation. This has lead to several publications already and more are in preparation. My publications can be found on my researchgate account (https://www.researchgate.net/profile/Paul_Laat).
The main focus of my research is to start a national inventory of all the patients carrying the m.3243A>G mutation. This mutation has a very broad phenotype, including MELAS syndrome and Maternally Inherited Diabetes Deafness (MIDD) syndrome, but also involves different isolated organs, such as the eyes, kidneys, heart and bowels.
At the moment the national inventory contains over 55 families and over 150 patients, and is still growing. If you are interested in the m.3243A>G mutation you can contact me at any time.