Get involved

Two paths, depending on who you are. Israeli families have a dedicated section of the site.

I'm a researcher or clinician

We can help connect you with documented cohorts and international collaborators.

Gene: IRF2BPL (HGNC:14282, UniProt Q9NPL8)
Syndrome: NEDAMSS — Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (OMIM #618088)
Cohort: Ultra-rare; the known cohort remains small and continues to grow

Most useful asks

Variant-level data sharing to support cohort assembly
Sample referrals for functional studies, where appropriate
Clinical-site interest and natural-history input for future treatment planning

Medical / research contact: Use the contact form

I want to support this work

We don't have donation infrastructure yet. If you'd like to contribute — financially, professionally, or by amplifying the work — please get in touch and we'll help route you to the most useful path.

Things that help right now

Connecting us with researchers working on IRF2BPL or related genes
Press and visibility among clinical and genetics audiences
Pro-bono help with regulatory affairs, manufacturing, fundraising, or rare-disease operations

Get in touch: Use the contact form

International families

We're a small Israeli family-led project, not a research database. If IRF2BPL appears in your child's genetic report, or NEDAMSS appears in a medical note, write to us — we'll answer what we can and help connect you with the right international collaborators.