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Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Currently there is no curative treatment. The disease has a huge impact on the everyday life of our patients.

In order to impact the lifes of both our current and future patients:

  1. Understand the underlying causes and the diseases mechanisms
  2. Evaluate care for our patients using sound scientific methods, so we can optimize care while not losing sight of the ultimate goal it in the end;
  3. Provide future curative treatment (genetic)
Relevance

How our research benefits to society

Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment ussually focuses on caring for blisters and preventing new ones. In our research we focus on how the blister diseases develop and manifest themselves and on the development of new drugs, such as gene therapy, stem cell transplantation and anti-B cell treatment. To find treatment and minimize the impact on our patients we need to

  • Find an exact molecular diagnosis.
  • Provide optimal care and influence the disease in such a way that we create an impact and improve the lifestyle of the patients in our care.
  • Find future curative treatment

  • To be able to provide patients with personal forms of therapy we are looking for gene mutations. Regular technology did not find us the mutation which causes Epidermolysis Bullosa. So we tried a different approach. One of the genes we found also shows potential heart involvement.

  • We evaluate care for our patients using sound scientific methods, so we can optimize care and impact the lifes of our patients where it matters most. Our research ranges from the practical to the psychological:

    • Stress in wound care.
    • Family mechanisms and how these influences the disease and treatment.

  • RNA based therapy , exon skipping, has emerged as a potential therapy for Epidermolysis Bullosa and related disorders. The regulatory mechanism to bypass the stop mechanism, might be influenced if we we could cut the mistake out of the RNA.

    The proposed treatment cannot yet be used in patients. The effectiveness has not been proven and has yet to be demonstrated in mice.

  • All of our professionals bare very active in collaboration with other researchers and with the patient associations DEBRA / Vlinderkind and Pemphigus.

  • We are the only one in the Netherlands for patients with blister diseases of the skin and mucous membranes (bullous dermatoses). These diseases due to a genetic cause (epidermolysis bullosa) or an autoimmune disease (pemphigus and pemphigoid) are relatively rare. The concentration of knowledge in a national center for rare diseases is valuable.

    Blister patients from all over the Netherlands gratefully take the trouble to come to Groningen to be treated by the most knowledgeable doctors and nurses. Close-knit multidisciplinary teams function in the Center for this patient category. We also have an immunodermatology laboratory for diagnostics and research.

Contact

Peter van den Akker
Peter van den Akker Clinical geneticist

University Medical Center Groningen (UMCG)
Department of Dermatology
PO Box 30.001
9700 RB Groningen
The Netherlands

Visiting address
University Medical Center Groningen (UMCG)
Department of Dermatology
Hanzeplein 1
9713 GZ Groningen