Just got a diagnosis?
If your doctor mentioned NEDAMSS, or your child's genetic report includes IRF2BPL, we wrote a plain-language guide that explains what it is, what we know, and who you can talk to.
Read the guideNEDAMSS · IRF2BPL · Israel
Four families in Israel. We are working to document every one.
We are Libi's parents. We built this site to help the small community of families in Israel living with NEDAMSS, a syndrome caused by pathogenic variants in the IRF2BPL gene. Our goals are to help families find one another, advance research, and make sure no Israeli child is left behind if treatment becomes possible.
Libi's story
Libi was born in late 2025. At three weeks old, she had her first seizure. At two months, trio whole-exome sequencing gave us an answer: NEDAMSS — a rare neurological disorder caused by a de novo early-truncating variant in the IRF2BPL gene.
Libi's variant is among the earliest truncating variants reported in this gene. The known global community remains very small, which means every family connection and every research conversation matters.
Today, Libi is seizure-free on medication. She smiles, makes eye contact, vocalizes, and receives physiotherapy. She is loved beyond measure — and she has given us a mission: to learn everything we can about IRF2BPL, connect families around the world, and push the research forward, for her and for every child who follows.
Where the Israeli families are
This map shows the Israeli families currently registered. We add a pin only with each family's consent.
The science
What is currently known about the gene, the patient community, and gene-therapy progress — based on published literature.
Read the science