Dear Researchers,
The IRF2BPL Support Group Europe e.V. hosts annual online meetings for the International IRF2BPL Research Consortium, where current clinical and molecular research on NEDAMSS and IRF2BPL is presented and discussed.
Please reach out to us if you are interested in IRF2BPL research or are currently working on IRF2BPL and would like to be invited to these meetings. We are happy to include you in our mailing list for information about upcoming events.
Patient Data and Biorepositories
Two institutions currently collect patient data and host biorepositories containing patient biosamples, such as blood samples and cells, for IRF2BPL research.
COMBINEDBrain
COMBINEDBrain is a nonprofit consortium led by patient advocacy foundations and supported by clinicians, researchers, and pharmaceutical partners. Its mission is to help develop treatments for rare neurological disorders.
For information about biosamples stored at COMBINEDBrain, please visit:
COMBINEDBrain – For Researchers
Alternatively, you can contact biorepository@combinedbrain.org.
For information about IRF2BPL patient data stored in the COMBINEDBrain MATRIX portal, please contact Studies@combinedbrain.org.
Simons Searchlight
Simons Searchlight is an international online research program funded by the Simons Foundation Autism Research Initiative (SFARI). Participation is open worldwide to individuals with a confirmed genetic diagnosis of one of the conditions included on their list of eligible genetic conditions.
Simons Searchlight has been collecting research data for more than 15 years. Its primary focus is collecting natural history data from individuals and families with specific genetic variants associated with autism, seizures, developmental delays, ADHD, and related neurodevelopmental disorders.
Currently, Simons Searchlight collects detailed information about participants and their families, including medical, developmental, and behavioral information, through online surveys.
For questions about accessing SFARI Data and Biospecimen Repository (SDBR) resources, including the Simons Simplex Collection (SSC) and Simons Searchlight data and biospecimens, please visit:
or contact Simons Searchlight at sdbr@simonsfoundation.org