Epidermolysis Bullosa and related disorders

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.