ZMYND11, a condition so rare it doesn’t have a name
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Our goal is to find treatments that improve the function of the ZMYND11 protein, to decrease the severity of symptoms caused by the disorder
Resources
Not a lot of resources are currently available. We are hoping to change that so that families feel like they have the information they need.
What is ZMYND11?
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. 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 can change lives together
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 eliminate symptoms. This might not mean a cure for ZMYND11, but could bring needed relief with symptoms like seizures, developmental delays, speech language delays, low muscle tone, feeding issues, and many more.
