Kleefstra Syndrome Research Update, The Worldwide Map, an International Study Opportunity, and More!

Update on IDefine Research Program

The rare drug development process can be painstakingly slow and frustrating. However, there is reason for real optimism in the Kleefstra Syndrome community.

The Ultragenyx Rare Bootcamp attended by IDefine CEO Geoff Rhyne and Chief Scientific Officer Eric Scheeff provided additional clarity on the Research Roadmap to a treatment, and IDefine is making moves.

“It was emphasized by those who have gone before us in the rare drug development process the importance of not only working on the next step, but to also be thinking about future steps and to be putting the pieces in place for those, and that’s what we’re doing,” said Scheeff.

IDefine continues to gather Research Assets, the initial step on the path. Each Research Asset listed on the graphic above has an asterisk next to it because each is dependent on community participation. Families can help advance research by signing up for things like AllStripes, Rare-X and the Kleefstra Syndrome World Map.

Research Focus

The next big step falls under Preclinical Research and includes selecting an approach to a treatment. After extensive investigation and months of discussion with its Scientific Advisory Board (SAB) and other experts, IDefine has narrowed its current focus to gene therapy and antisense oligonucleotides (ASOs).

The KS Worldwide Map

We have heard so many times from parents that they would be interested to know if another KS family is near or how many there are in the world. Further, researchers interested in KS are asking the same questions!

Thanks to Haluk Akin, a KS parent, we can start collecting this data: the world map of KS cases is online and active! It is simple to use and does not take a lot of time (2-3 minutes per entry). The aim is to finally know in which country/city we have KS children/adults worldwide and the number of cases across the globe.

Please help us in this important initiative by clicking the button below.

International Speech + Language Study

We are excited to announce an International Study on Speech + Language for Kleefstra Syndrome. IDefine's effort with Professor Angela Morgan, profiled here on our blog, and PhD student Lottie Morison will seek to further our understanding of speech and language abilities in Kleefstra Syndrome.

Join the webinar June 23rd, at 4:30 PM ET, to learn more about this opportunity. Further, if you are interested in being a part of the study, please reach out via email to: angela.morgan@mcri.edu.au

Worldwide Map

Quick Clips on Kleefstra

IDefine the Future Podcast: Are you up to date on the latest and greatest news about Kleefstra Syndrome and IDefine? Join us for these quick, informative episodes that can be found found on Spotify, Apple Podcasts, and via the IDefine YouTube channel.
KleefSTAR: Are you interested in seeing your loved one recognized for how amazing he/she is? Fill out this Google Form!
Kleefstra Syndrome Awareness Day: MARK YOUR CALENDAR! This year, OUR DAY, September 17th, falls on a Saturday! It's a great opportunity to raise awareness and solicit funding to further our efforts. Are you interested in hosting an event to accelerate our research efforts and mission? Donate below or reach out to us today...let's #BuildABrighterFuture!

DONATE!

IDefine, Inc
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unlock@idefine.org

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