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Dear parents and relatives of children with IRF2BBPL Disorder

You probably found this website following internet research because your child has been diagnosed with the ultra-rare genetic diseases called NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) or IRF2BPL Disorder. Our son Johnny was diagnosed with the disorder in 2019. At first we felt desparate and helpless, but now are putting our enegery into building a European network of parents to help campaign for research into an effective treatment. We therefore invite you to contact us, so that we can work together to push for more research into a cure for our children.

Up to now there have been a only a few studies on IRF2BPL disorder. But it would be significant if you could support the ongoing research. We would like to direct your attention to two ongoing studies, both of which are central for the search for a therapy.

Dr Loren Pena from Cincinnati Children’s Hospital Medical Center is studying how the disease progresses in individual cases. Such a natural history study is essential to all endeavors to find a therapy. Additional details about the study can be found here:

Equally important as our natural history study is our Patient Registry at Simon’s Searchlight. It would be great if parents could support research by registering their Children for this registry:

Dr. Pawel Lisowski at the Max Delbrück Center for Molecular Medicine (MDC) Berlin is using genome engineering technologies to generate patient specific stem cell lines. These cells are further differentiated into neurons of interest to decode molecular effects of mutations on neurodevelopment and to test mutated gene vulnerability for replacing with a healthy copy. These research tools ultimately provide basis for somatic gene editing resulting in gene therapies. He is also exploring the potential of already existing drugs for the inhibition of neurodevelopmental diseases progress being investigated.

You can support his research by either providing him with information on the type mutation or by donating patient’s cells. If you consider taking part in his study email him in English, German or Polish.

For more information on his work, visit:

Please bear in mind that neither Dr Pena nor Dr Lisowski can answer all general questions concerning the disease and that you should only contact them when you consider particapation in their studies.

Other researchers in the US are searching for a cure that is mainly financed by the Stand by Eli foundation which has been re-named as I DREAM FOR A CURE, that is dependant on donations. Please see for more information.

Furthermore, we would like to inform you about the IRF2BPL Parent Support Group on Facebook. It’s a safe place where parents support each other and share their stories:

It would be great if you would contact us to so we could build a European network of parents together. Please write to us in either German or English at
Best, Jens & Lina