IRF2BPL Support GROUP EUROPE
The disease
NEDAMSS or IRF2BPL-related disorder is a very rare, genetically determined neurodegenerative disease that usually first appears in infancy or early childhood and is caused by mutations in the IRF2BPL gene. Many affected children typically experience developmental delays, followed by a sudden or gradual loss of previously acquired skills such as language, motor control, and cognitive functions. The most common symptoms include epileptic seizures, gait and movement disorders (e.g., ataxia, dystonia), and swallowing or vision problems. The course of the disease is often progressive, but the severity and speed of development can vary greatly from person to person.
The association
The non-profit association IRF2BPL Support Group Europe – Association for the Support of Patients with a Mutation of the IRF2BPL Gene e.V. is dedicated to finding treatment options for affected patients. In addition to connecting patients, relatives, and researchers, the association promotes research into NEDAMSS and the search for a treatment. We cooperate with researchers at the national and international level. To date, the association has supported the work of Dr. Pawel Lisowski and Jakob Metzger at the Max Dellbrück Center in Berlin, who are working on an organoid model of the disease. In addition, the association has provided modest funding to support the work of Prof. Dr. rer. nat. Heidi Olzscha at the Hamburg Medical School and Prof. Dr. Peter Claus (Smatheria/ Hannover Medical School)
The association’s board members are Jens Kiefer, Lina Paulsen, and Julia Coellen. The medical advisory board consists of PD Dr. med. Axel Neu (Vamed Klinik Geesthacht), Dr. Tobias Else (University of Michigan), and Dr. Laura Bilbao (Robert Koch Klinikum Gehrden).
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