🇭🇺 Ez az oldal magyarul is olvasható: Vissza a magyar oldalra
We are a family in Hungary raising a daughter with GAND — GATAD2B-associated neurodevelopmental disorder. This site has been written in Hungarian for several years. These English pages exist because the GAND community is small, scattered across 51 countries, and every connection matters.
Why an English version
If you have just received a genetic report with the word GATAD2B on it, you are probably looking for two things: what this means, and whether anyone else is out there. The answer to the second question is yes — roughly 455 people worldwide as of September 2025, up from about 250 in 2022. That number is growing not because more children are born with GAND, but because genetic testing is finally reaching them.
We are not clinicians and this site is not medical advice. What we can offer is eight years of lived experience, and a perspective that is currently underrepresented in the literature: almost every published GAND case comes from Western European or North American populations. We are in Central Europe. Kiara was the first diagnosed child with this condition in Hungary.
Kiara’s variant
Most GAND cases — around 94% of identified variants — are loss-of-function: the gene is truncated, shifted, or deleted, and the protein is essentially absent.
Kiara carries a missense variant. The protein is made, but with one wrong amino acid. In the 2020 cohort study by Shieh et al., only 7 of 50 subjects had missense variants, all of them falling inside one of two conserved regions (CR1 or CR2) of the GATAD2B protein. This is a small subgroup, and — as far as we can tell — one that may matter therapeutically, because the underlying mechanism is not the same as simple haploinsufficiency.
If your child also has a missense variant, we would genuinely like to hear from you.
Our data is in the research
In autumn 2025, Dr. Tyler Mark Pierson of Cedars-Sinai Medical Center contacted us directly. Kiara’s genetic reports, developmental data and our parent questionnaire were added to the active research dataset, and we spoke with him at length over video.
This is not a promise of anything. It does mean that a Hungarian child’s data is part of the picture that science is learning from — and that the mechanism works. If you have a child with a confirmed GATAD2B variant and want their data included too, you can contact Dr. Pierson directly at Tyler.Pierson@cshs.org.
Read more
- What GAND is — and why every child with it is different — including how variant type shapes the outcome
- GAND research in 2026 — what we know now — a dated summary of the mouse model, the iPSC programme, the 2025 papers and the CIRM grant
The wider GAND community
We are a family blog, not an organisation. For registries, conferences and research funding, these are the people to find:
- Helping Hands for GAND (USA), gatad2b.org — the main parent organisation, funding research and running the biennial scientific conference
- GAND AID UK — UK-based community, held a scientific meeting in Wigan in June 2026
- Facebook groups: GATAD2B Gene (parents) and GATAD2B Community
If you are a newly diagnosed family anywhere — write to us. We answer in English. The most useful thing you can do for GAND research is to make sure your child is counted.