VASCERN Spotlights: Professor Julie De Backer
The ultimate goal is to provide patients with these rare diseases with the right care in a timely manner – my greatest hope, therefore, is that the central ERN message “Share – Care – Cure” will become “Excellent Sharing – Excellent Caring – Excellent Curing” across the EU borders.
This month, it’s Professor Julie De Backer from Ghent, Belgium, in the VASCERN spotlight! Prof De Backer is Chair of the Heritable Thoracic Aortic Diseases working group (HTAD-WG) and also member of the Medium-Sized Arteries Working Group (MSA-WG). Read all about what made her want to become involved with VASCERN and what her greatest hope is for our network and for the ERNs in general.
1) What is your medical specialty and what interested you in this field?
I am a cardiologist and clinical geneticist. In high school I was fortunate enough to have a very inspiring biology teacher who taught us the basics of genetics. My interest in this topic was raised at that time and I started my studies in medicine, always with genetics in my mind. During my training in cardiology, my interest was also more focused on the rarer genetic disorders and in order to further develop my skills, I followed an additional training in medical genetics as a cardiologist. I combined this with research on Marfan’s syndrome, which ultimately resulted in my doctoral work that dealt with the clinical and genetic aspects of this condition. I have been fortunate – again – to have had Professor Anne De Paepe as my mentor. Meanwhile, I also have recognition in clinical genetics which allows me to view heritable thoracic aortic diseases (HTAD) from both perspectives.
2) How did you become involved in VASCERN?
I had been aware for some time about the establishment of a European Reference Network for rare vascular diseases, and as soon as we received the call to sign up in 2016 within our institution, I prepared all of the necessary requirements for participation. In March 2016, Professor Jondeau, the coordinator of VASCERN, along with Project Manager Marine Hurard, explained the strategy of VASCERN at a meeting in Ghent and I thought it was a beautiful project that I definitely wanted to be involved in.
3) What is your greatest hope for VASCERN?
I hope that a uniform European policy on the approach and treatment of rare vascular diseases, including HTAD, will be set up and that this will inspire and allow countries that do not yet have a national rare disease plan (such as Belgium) to structure this policy in close consultation with VASCERN. I hope that VASCERN will create a greater awareness for these rare disorders, not only at the level of the healthcare providers but also at the level of the policy makers and the general public. The ultimate goal is to provide patients with these rare diseases with the right care in a timely manner – my greatest hope, therefore, is that the central ERN message “Share – Care – Cure” will become “Excellent Sharing – Excellent Caring – Excellent Curing” across the EU borders.
4) What challenges do you face as a healthcare professional in the rare disease field?
One of the major challenges I face is to convince my hospital managers and heads of medical departments the importance of setting up a structured policy for the diagnosis and treatment of rare diseases. This is all too often seen as a time-consuming and unprofitable business whereas in reality there are already several fine examples of the possibilities for the translation of knowledge gained by studying rare diseases as models for more common disorders. Moreover, most HTAD entities affect young people and entire families and one should not underestimate the psychological and societal burden associated with not providing proper care.
I am happy with my role as Chair of the HTAD-WG because it is a very active team of experts that I get to work with – I see this as a great honour!
5) What have you accomplished in your medical career that you are most proud of?
At Ghent University Hospital, I have developed a Centre of Expertise for rare congenital and hereditary cardiovascular disorders, as well as an adapted transition program that accompanies patients from paediatrics to the adult department.
6) Are you currently involved in any research projects or clinical trials? If so can you please describe them briefly?
I have a part-time research mandate myself and conduct further research in the clinical and genetic aspects of HTAD, often in collaboration with international partners. I have been involved in clinical trials that have tested the effects of losartan in Marfan syndrome and celiprolol in vascular EDS in the past.
7) What VASCERN activities do you participate in and which are your favourite?
I am currently Chair of the HTAD-WG and am also a member of the MSA-WG and the e-health WG. I am happy with my role as Chair of the HTAD-WG because it is a very active team of experts that I get to work with – I see this as a great honour!
8) What are the main achievements of VASCERN to date? What challenges does VASCERN still face?
The main achievements in the HTAD group specifically until now are the preparation of a patient pathway and specific guidelines for the care policy in patients with ACTA2 mutations. In regards to VASCERN in general, in my opinion, the greatest achievement is the drafting of the structure and the network through which cooperation with the various parties is promoted. At the moment there are two major challenges in my opinion: 1. making the CPMS system for the discussion of complex cases workable and efficient and 2. finding the right incentives to continue to encourage members to participate actively – in the absence of financial resources.
For more information on the HTAD-WG and its members, click here
To watch the first PoK video from the HTAD-WG on the diagnosis of Marfan syndrome click here
