DOnation

Dear Parents and Relatives of children with IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like) – related disorders (NEDAMSS):

You could find this website because your child has been diagnosed with the group of ultra-rare genetic diseases called NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures). IRF2BPL – related disorders are progressive. The symptoms get worse over time. Non symptomatic people with these disorders at some point during their life span starting to loose the ability to walk, talk, and eat. Over time, they require placement of a tube into the stomach to aid with feeding as well as a mechanical respirator to help them breath. 

The symptoms are related to the broad spectrum of mutations in the IRF2BPL gene. The protein made by this gene is found in many different organs, including the brain. It is unclear how the protein made by this gene works in the body and why changes in the gene result in these disorders. The IRF2BPL may be involved in the regulation of other genes since IRF2BPL contains a special polyglutamine (polyQ) and polyalanine (polyA) tracts and such peptides are pan-transcriptional regulators and are present in various forms of neurodegenerative diseases. IRF2BPL mutations result in a short non-working protein (nonsense mutations) and frame-shift mutations. Contribution of the type of varint in disease progress is still under investigation. 

Because the long-term outlook for people with these disorders is unclear and during our work on undiagnosed disorders we discovered first patients with IRF2BPL related diseases – recently we have started intensive research on IRF2BPL. Therefore, you can participate in our collaborative network of IRF2BPL research by donating the patients’ cells. For basic information about our IRF2BPL.DE research initiative please visit  https://irf2bpl.de/. For cells donation methods and procedures please contact Dr. Pawel Lisowski directly.

PS: RARE DISEASES ARE NOT RARE.