Dr. Ype Elgersma

Dr. Ype Elgersma is a Professor of Molecular Neuroscience at Erasmus Medical Center in Rotterdam. He is also the Scientific Director of ENCORE Expertise Centre for Neurodevelopmental Disorders. His current focus is trying to understand how motor deficits in Angelman syndrome arise, and whether the neurological deficits are reversible.

Q: What prompted you to begin a career in research?

A: Already as a kid, I was always quite curious how thinks work. But I knew for sure that my future was going to be in a lab when I had my first chemistry lesson when I was 14 years old. And once I had my first lesson about DNA and biotechnology, I knew that that was what I really wanted to study. And I did! I added the brain part only in my second postdoc, when I was 30 years old.

Q: What led you to specifically target Angelman syndrome?

A: Coincidence! When I did my postdoc in the US, my interest had shifted to understanding the genes/mechanisms underlying learning and memory. The CaMK2 gene is a gene that is absolutely essential for learning and I studied how it was precisely regulated. I discovered that it could not only be activated but also be inhibited. When I presented my results at the annual Neuroscience meeting (where more than 25,000 neuroscientist gather each year) I saw a poster of Ed Weeber who had found that CaMK2 was inactive in a mouse model of Angelman Syndrome (of which I had never heard…). I showed him my findings how CaMK2 was regulated.  We then decided to exchange mice and to jointly investigate if CaMK2 inhibition could indeed be responsible for neurological deficits in AS. This turned out to be the case.

Q: What is your specific area of focus within the field of Angelman syndrome research?

A: CaMK2 regulation is still a large focus. But in addition we have been trying to understand how the motor deficits arise, and whether the neurological deficits are reversible. Besides that I’m the director of the ENCORE expertise center for neurodevelopmental disorders, which includes the Dutch Angelman Expertise center. We also have patients coming from other European countries. Currently we have 75 AS children in active follow-up.

Q: What have you learned through your research thus far, and what is the next step?

A: The involvement of CaMK2 is still my only contribution to the AS literature. But coming year we will publish some of our new findings.

Q: What is the single most rewarding aspect of conducting Angelman syndrome research?

A: That it serves a clear purpose! The questions we try to address are not merely semantic questions! There are parents who are desperately waiting for our findings and are grateful for our efforts. I must say that it is also because of the parents that I keep on working on AS. They are very much involved, and give me energy to keep on going, even when funding is low and the disease is rare.

Q: How do you see your research complimenting the efforts of other Angelman syndrome or neurodevelopmental disorder researchers?

A: It is all very complimentary; these proteins do not work by themselves, but in networks. Once we understand AS we also learn more about other disorders.

QDoes your research focus on any other disorders?

A: Yes indeed! My own lab is also working on other syndromes such as TSC, NF1, Noonan and Costello syndrome. And we have a small research line on aging.

QWhat activities do you enjoy in your spare time?

A: I have to admit that there is very little spare time in my life! I devote that mostly to my family and to reading. In good winters I love to skate long distances. And I love scuba diving, but only at tropical places.

Q: Do you have someone in or outside the scientific community that has inspired you, or is there someone you look up to as a personal hero?

A: There are quite a number of researchers that inspire me, including at my own University. But not one in particular.

See more information on Dr. Elgersma.