By Phil Ash, GRIN2B Foundation Board Member

Hello! This is Phil Ash, teacher, father, Board Member of GRIN2B Foundation, and the host of Celebrating Rare: The GRIN2B Podcast. It’s been a while since a new Celebrating Rare podcast has dropped. I, like so many others, have had much to navigate throughout the course of the COVID-19 pandemic. However, during GRIN2B Awareness Week in March, I felt like it was finally time to get back on the podcasting horse in an ongoing effort to help provide support to our GRIN2B families.

In this episode, we dive into genetics 101 through the lens of a GRIN2B genetics report. Let’s face it, learning genetics and its terminology as it pertains to GRIN2B-Related Neurodevelopmental Disorder is not for the faint of heart. If you’re like me, and science does not come easy, it can be difficult to navigate all the questions you may have. For a newly diagnosed family, it can be scary to know where to begin and your emotions might be getting in the way of learning terminology and discovering answers. This episode seeks to provide simple information that is located on a typical genetics report families receive confirming the diagnosis of GRIN2B-Related Neurodevelopmental Disorder. My intention is to simplify this report and define as many terms as possible. I welcome any questions families may have – and there is no such thing as a stupid or silly question! We all don’t know what we don’t know, and I hope this episode can reframe the overwhelming topic of genetics into a way that’s easier to understand and digest.

I hope you enjoy this episode and be on the lookout for future episodes this year featuring additional parents, researchers and doctors. As always, if you have comments or suggestions for future topics, or are interested in being a guest on future episodes, please send an email to phil.ash@grin2b.com or send a tweet to @grin2bsyndrome, using the hashtag, #CelebratingRare.

To further protect myself from any unintended mistakes, each episode will have the following written disclaimer when you click on the link:

PODCAST Disclaimer: While I make every effort to broadcast correct information, I am still learning. I make every effort to double check my facts, but realize that medicine is a constantly changing science and art. I am simply sharing my views and personal experiences as a GRIN2B parent. I am not a medical professional. I welcome any comments, suggestions, or correction of errors. This entire disclaimer also applies to any guests or contributors to the podcast. Under no circumstances shall Phillip Ash, GRIN2B Foundation, any guests or contributors to the podcast, or any employees, associates, or affiliates of GRIN2B Foundation be responsible for damages arising from use of the podcast.