Patient registries are crucial for rare disease research because they collect and organize data from individuals affected by these conditions, helping researchers understand disease progression, identify patterns, and evaluate treatments. Since rare diseases often affect small populations, registries provide a centralized source of valuable clinical and demographic information, enabling more effective research, improving diagnosis and care, and supporting the development of new therapies.If you are a patient or a relative, you can support IRF2BPL research by registering in these registries. Thanks a lot.
- IRF2BPL Registry at Weill Cornell Medicine: https://shorturl.at/oxcNl
- IRF2BPL Registry at Simon’s Searchlight: https://research.simonssearchlight.org/account/create
Molecular Studies at the MDC / Bio Sample Donation
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 donating patient’s cells. If you consider taking part in this study, please reach out to Dr. Pawel Lisowski: pawel.lisowski@mdc-berlin.de