About Us
A ZMYND11 gene disorder is very rare, with less than 50 children diagnosed in 2020. This number is growing with more genetic testing and awareness. Our goal is to find treatments that improve the function of the ZMYND11 protein, to decrease the severity of symptoms caused by the disorder. We are partnering with Perlara, PBC. to use induced pluripotent stem cells (iPSCs) from a skin biopsy that will undergo a drug repurposing screen to identify which FDA approved medications can alleviate or elliminate symptoms.
Changes to the genetic code during DNA replication happens to everyone, but many times the changes do not affect genes responsible for health or development. Those with either an inherited or de novo (random) pathogenic variant to the ZMYND11 gene causes reduced function of the ZMYND11 protein. The effects can vary from minimal to significant and include: developmental delay, intellectual disability, speech & language delay, and behavioral difficulties. Over one third experience seizures; almost half the children reported have weak muscle tone; and about two thirds have feeding difficulties.
We created this page to get more resources to families and to offer the opportunity to be part of treatment discovery.
Our goal is to find treatments that improve the function of the ZMYND11 protein, to decrease the severity of symptoms caused by the disorder.
When you have a rare disease, you face two battles: one, the illness itself, and the other, living in a world world where so few people know what you are up against— #raredisease
