Helping Hands for GAND hosted their 1st GAND Family Gathering June 23-25, 2016, in St. Louis, Missouri. This event was made possible through a grant from Global Genes. In attendance were 73 people (and 1 assistance dog!) from 18 families representing 19 of the 42 currently known cases in the world. Families were able to learn more about this incredibly rare disorder by connecting with researcher/clinician Dr. Tyler Pierson from Cedars-Sinai Medical Center in Los Angeles, by meeting and hearing from other affected families, and by participating in group discussions.
WHAT IS GAND?
GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development. Although there are only a few published cases, patients so far identified have had intellectual disability, low muscle tone, limited speech, strabismus, and distinct physical characteristics, including tubular-shaped nose with broad nasal tip, short philtrum, and sparse hair.
Nearly all cases of this disorder occur through a de novo (i.e., new) mutation in the GATAD2B gene and are, in these cases, not inherited from either parent. However, affected siblings are possible and have been noted in rare cases when one of the parents has low-level mosaicism, meaning that a small percentage of the cells within that person have a different genetic makeup. Children of individuals with GAND would have a 50% chance of sharing the disorder.
Some of the topics presented and discussed included understanding GAND, advocating for your child in the special education setting, communication, resources for GAND families, and self-help skills. Families also enjoyed local outings and meals together. It was a wonderful time of building relationships with a community of people facing many of the same challenges. Participants expressed thanks to Global Genes, their donors, and all of the families for making this event possible!
If you would like to learn more about how you can contribute to their mission to support families affected by GAND, please visit their Donation page.