By Dr Marieke Bolling


My name is Dr. Marieke Bolling, dermatologist, MD PhD, medical director of the UMCG Centre of Expertise for Epidermolysis Bullosa in Groningen, The Netherlands.

Which aspect of EB research are you most interested in?

I am interested in every aspect of EB as I believe in a holistic view and collaboration. From the first steps in the EB research field, the search for the causes of the different types of EB (the genetic alterations) has caught my attention, but also the disease mechanisms: how do these DNA alterations result in the different aspects of the disease? By understanding this better, we will learn what we have to do to improve and treat the disease. Although we already understand a lot about EB, I still believe there is much work to do there. As a medical doctor, seeing patients on a daily basis, I am also interested in how we can improve our current care, with the tools that we already have: what does the patient need and wish for? How can we better treat the pain and itch, and are there means to prevent escalation of these symptoms? At the moment, for example, we aim to develop and implement an education program to help and reduce the fear and stress that comes with the pain of EB.


What inspired you to work in EB research?

As a medical student I was doing a short research project at the department of Dermatology, with the late professor Marcel Jonkman, on autoimmune blistering diseases. He then took me with him on a ward visit to a new-born with the suspicion of having epidermolysis bullosa (which turned out to be so). I was caught by the impact of the disease on this little baby, but also on the family, and the whole medical team at the neonatology ward. I wanted to know more about this, but also add to the knowledge and care. So, when Marcel asked me to do a PhD on a subject within EB, I said yes immediately.

From the start, I combined clinical dermatology with research, and have seen many EB patients so far (in our centre all Dutch patients with any type of EB, and of any age, are seen, including around 500 persons with EB now). Their suffering, but also their strength, made and still makes a big impression on me. I wanted to understand the disease and its complexities, but also look for improvements in daily care, and what could be done to diagnose the disease better and faster. But also, how we can better treat their symptoms, and hopefully develop and implement disease modifying treatments. I very much believe in collaboration, we need to do this together, patients, doctors, researchers, etc., on a daily care level as well as in the field of EB research. In our mission/vision statement for the EB centre our main targets for the future are: every patient has a correct and precise molecular diagnosis, every patient receives the best possible care, and every patient a personalized disease modifying molecular therapy.

The research projects that are running in our centre also really cover these three major fields, with qualitative studies evaluating our diagnostic process and impact of the disease to see how we can improve; a trial that evaluates a cannabinoid based oil for pain in EB (funded by DEBRA UK); and molecular studies to see how we can technically optimize diagnostics, develop RNA based therapies, look for other treatment modalities, etc.


What does funding from DEBRA mean to you?

We as a team are so grateful to DEBRA UK for funding part of the research that is done at our EB centre. Without this funding, it would have been impossible. The funding helps in making essential steps towards better care and treatment for patients with EB. The personal and respective communication with board and members of DEBRA UK is so much appreciated.


What does a day in your life as an EB researcher look like?

As I am a clinical researcher, my day is very diverse. I cannot remember that I have ever had a working day that I felt bored!

I see patients in the outpatient clinic of our hospital; if we have patients on the ward, then I also go there. I meet with my PhD students, usually once a week with each of them. For the running projects, I meet with the teams involved to look at progress and where input is needed, within our centre, but also sometimes in collaboration internationally. I meet with our financial department and legal support for setting up and performing studies. Nowadays, for every study, independent of its size, we need to ask for ethical approval, which takes a lot of time as well. We need to keep our EB registry up to date, content wise, but also on ICT level. Currently, I hope to get our electronic patient file system ready to use as a database as that would save a lot of time. Manuscripts need to be written as well as funding applications.

And not to forget education. We have many residents on their way to becoming dermatologists and part of my job is to educate and guide them. One of my goals is that they feel skilled when they are confronted in their clinics later on with a neonate with blisters, and that they can support in the care for EB patients when patients live far from our centre.


Who's on your team and what do they do to support your EB research?

A team of 16 researchers from the Netherlands.

We have a motivated multidisciplinary EB team with many specialists involved. For the daily care we have a skilled nurse practitioner, José Duipmans, and a nurse, Birthe Ruiter, and they closely collaborate with our EB clinical research fellow Rosalie Baardman. They do an amazing job in organizing everything around the patients, but also help in finding patients to participate in studies. Together with Peter van den Akker, MD PhD, clinical geneticist; and post-doc Jeroen Bremer, PhD and Gilles Diercks, pathologist MD PhD, together leading our diagnostic and research laboratory, I lead the EB research group. We have many collaborations within our centre, but also internationally. Professor Andre Wolf, anaesthesiologist, supports the DEBRA UK funded study cannabinoid treatment for pain and itch in EB.


How do you relax when you're not working on your research?

I love to be outside and do sports. When possible, I take my bike or go for a run. With my kids I like to play games indoors and outdoors.