NL
DE
My name is Bert de Vries, born (1964) and raised in the Hoeksewaard, that is in a rural region south of the big city Rotterdam.
After my medical training in Rotterdam, I moved to Nijmegen in 2001, and started working as a Clinical Geneticist in the department of Human Genetics and performing my research within the theme ‘Neurodevelopmental Disorders’ focusing on the clinical and molecular study of neurodevelopmental disorders such as intellectual disability and autism.
Where do you live?
I live in Eindhoven, my three children all moved out studying at different cities.
When you were a kid what did you want to be when you grew up? Can you tell us something about your child years?
In my younger years I was inspired by the stories of Dr Livingstone and his explorations of Africa. You might be familiar with the phrase “Dr Livingstone, I presume?’ when journalist Henry Stanley met him in West-Tanzania.
In my teens I was intrigued by Biology and it turns out that my focus of interest was the Human Biology and this triggered me to pursue the study of Medicine.
What was your previous academic training, where did you study and why did you choose that study/those studies?
Although for my medical study I chose Leiden as my first choice because of the ‘student activities’, I was placed at the Erasmus University Rotterdam. Rotterdam appeared to be a vibrant 24/7 city where the Rotterdammers do have a straightforward sense of humor and, of course, both a great football team and, at that time, one of the fastest marathon tracks. During my medical training I did several international electives in Indonesia, Tanzania and Canada.
My training to become a clinical geneticist combined with my PhD was at the dept of Human Genetics in Rotterdam. After my specialist’s training and PhD, I moved with my young family for a clinical fellowship to The Institute of Child Health/Great Ormond Street Children’s Hospital in London. After an exciting and fruitful year, we moved back to Holland and I started here in Nijmegen.
Of which of your research discoveries, you are most proud of?
Each new discovery is exciting and although it might sound strange but it is always the most recent novel finding that makes me proud. I have been involved in the discovery of over dozens of genes associated with intellectual disability and/or autism, some as participant and some as leading scientist. My name has been linked to some novel syndromes. The discovery of the 17q21.31 deletion and, subsequently, the causative KANSL1 gene leading to the Koolen-de Vries syndrome was the first one and it remains therefore special. Going to the family gatherings organized by the Koolen- de Vries syndrome foundation in the US together with co-investigator David Koolen is always a special and warm moment, meeting those ‘Kool kids’ and their families.
What is your most important scientific challenge in the coming 5 years?
In Clinical genetics today it is ‘genotype first’ initiated by the revolutionary development of ‘next generation sequencing’ allowing the sequencing of the whole genome in one go. So many novel variants in novel genes are currently found on a daily basis. The clinical significance of numerous of those missense variants are unknown, so called ‘variants of unknown significance‘ or simply VUS. From a clinical point of view those VUS’es are the main challenge within our clinical genetic setting as for patients and their families it is important to get certainty about the underlying genetic cause of their disorder. The coming years we are focusing on performing better phenotyping and for this we are developing different AI mediated tools such as for ‘facial recognition’ and identifying consistent associations between phenotypic features and genes.
If you could choose any mentor, who would this be?
Seneca, one of the Roman philosophers living in the 1st century. His philosophy of Stoicism which started already with the Greeks, has inspired many people later over the centuries, including Friedrich Nietzsche, and is regarded as one of the major approaches to virtue ethics.
What is your favorite topic: molecules - patients - population?
As a clinician it is obviously the patient which is the center of my interest. But the molecules do help me to understand the patient better. It is intriguing to realize that one single gene defect originated around conception cause a recognizable pattern especially in the face but also other organs after birth and later on in live.
What should be changed / improved in the scientific community?
Overall, the scientific community is functioning well. Of course, some more consistency in funding of long term research projects would be desirable.
Is there anything we can wake you up for in the middle of the night?
Certainly, for a trip to the North Pole which would be amazing.
What is the thing that irritates you most?
There are not many things that irritates me, but dishonesty is, of course, highly irritating.
Who would you like to have dinner with, if you had the chance?
Juliette Binoche, one of the best actresses of our time. She performed excellently in movies such as ‘The unbearable lightness of being’ (directed by Philip Kaufman) and ‘Trois couleurs: Blue’ (directed by Krzysztof Kieslowski).
How do you relax from the demanding job being a scientist?
It is all about the balance between brains and body. So I do a lot of sports such as triathlons and marathons which require a consistent training, the swimming, running and cycling. In order not to neglect the brain, reading and movies are other relaxing ‘activities’ in between the physical ones.
Do you have a tip for our most junior scientists?
Nowadays, science is a team effort. So it is essential that you do science with excellent colleagues. So it is important that you work together, nationally but also internationally with other good scientists. The most inspiring discoveries are usually done just on the edge where your field of knowledges touches that of another scientific area. So try to combine and inspire others to work with you.
Please add a photo which represents a remarkable event or experience you were part of? Please explain.
This photo was taken at the 17 miles spot of the NY marathon by one of the parents of a child with the Koolen-de Vries syndrome (KdVs). At that point there were several children with KdVs and their families to support me. The KdVs foundation sponsored this run and they were able to raise 7,000 dollars for research on this novel syndrome.
As you can see I was still relatively fresh at that point, usually the man with the hammer appears suddenly around 20 miles. By the way: final time 3.39.
