IDefine Blog
IDefine News  - January 21, 2023
Geoff Rhyne - AUTHOR

IDefine Impact Report 2022

With the end of 2022, we mark the second year of IDefine’s existence.  We are moving with an incredible sense of urgency, moving our way towards a targeted treatment to combat the challenges put upon our loved ones with Kleefstra Syndrome and those caring for them.  In just two years, we have established ourselves as a leading organization in the rare disease community with our commitment to our three pillars of focus: Building the Kleefstra Syndrome community, Developing Coordinated Clinical Care for patients with Kleefstra Syndrome, and Propelling Research towards a therapeutic intervention for Kleefstra Syndrome.  In 2022, we made significant strides across all three pillars.

As we have said before, we yearn for the day of “no more nevers.”  We pray for the day when our loved ones aren’t suffering from Kleefstra Syndrome.  Tragically, our community mourned the loss of six beautiful souls with Kleefstra Syndrome in 2022 alone.  We must intervene and build a brighter future for our loved ones.  

We have a small but mighty team working collectively to further our mission and create opportunities, and we are grateful to our donors who enable this work and fuel our hope.

2022 Foundation Highlights

2022 Research Highlights (see details below)

Kleefstra Syndrome Community and Patient Data

2023 Goal: Drive the science to clinical drug development



We aim to be relentless in our pursuits to build a brighter future for all of those impacted by Kleefstra Syndrome. We fully recognize that our effort is one that is built on, by, and for our community.  We are incredibly grateful to every person who is on this journey with us. On behalf of the IDefine team and our international community, thank you for your support.  Looking forward!

Over 75 families attended the North America Kleefstra Syndrome Family Conference