KS census number a top priority in 2023

Following the successes and accomplishments of last year, one of IDefine’s priorities in 2023 is identifying more people with Kleefstra Syndrome and where they are located.

IDefine is generating this “KS Census” number utilizing the Kleefstra Syndrome Worldwide Map. At the beginning of December, 103 people had signed up to be counted. Following a social media push last month, that number has surged to 338.

“We’re going to report on the KS Census number each quarter,” said IDefine CEO Geoff Rhyne. “That will enable us to show an upward trajectory over time underscoring that Kleefstra Syndrome is a severely underdiagnosed condition, and that we are discovering new patients every single day – and we know where they are. We know that there are at least 900 diagnosed patients out there.”

This is a critical effort for a few reasons. One is that scientists need to be sure that rare conditions – like KS – have the patient population necessary to conduct viable research. And for drug developers, having this population available is critical when they consider whether or not to develop or test medications for a condition like KS.

“In our conversations with drug developers, we’ve repeatedly heard that it isn’t enough for a rare disease community to have an idea of how many patients there are. They need to know concrete numbers of patients that can be contacted, and their geographic locations” said IDefine Chief Scientific Officer Eric Scheeff. “Drug developers need reassurance that, if they are successful, there will be a patient population ready to collaborate with them in a clinical trial. If they don’t see that, they may choose to work on other conditions where this data is available.”


Chief Scientific Officer Corner, Volume 1

Hello fellow members of our KS family and welcome to the CSO corner! Going forward, I’ll be using this column to provide insights and highlights on all the scientific goings on in Kleefstra Syndrome, and the rare disease space in general. This is an exciting time in the rare disease world, and there is so much to tell.

For this newsletter, I’d like to address a fundamental scientific question: just how big is our KS family? Or in other words, how many people have KS in the world, whether they know it or not?

This is actually a really challenging question! As you probably know, KS is almost always caused by a spontaneous genetic change in our affected family member (which occurred in the sperm, egg, or zygote very early in development). In other words, with some narrow exceptions, it does not “run in families”, and there isn’t a “KS gene variant” in the population that we can track to determine how many people will be born with KS per year.

Adding to this challenge, the clinical spectrum for KS is very broad, which is a fancy way to say that people with KS can be quite variable and diverse. This means we can’t easily find everyone with KS through a simple clinical checklist. We need comprehensive genetic testing.

Looking Back, Looking Forward

With the end of 2022, we mark the 2nd 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 2 years, we have established ourselves as a leading organization in the rare disease community with our commitment to our 3 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 some 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 where our loved ones aren’t suffering from Kleefstra Syndrome.  Tragically, our community mourned the loss of 6 individuals 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.


Quick Clips on Kleefstra

  • Eat Justice Initiative: We are thrilled to share the success of this opportunity!  In the month of December, Mecha Noodle Bar sold 51,842 bowls of ramen.  That equates to $25,921 raised for IDefine, and it set the record for most bowls of ramen and funds raised in a month by Eat Justice!  We are blown away and grateful for Chef Brian Reilly and Tony Pham!  Do you know any business owners or restaurateurs in your community that may be interested in such an effort?  If so, let's get connected!

  • IDefine Slack Channel:  Interested in further connecting with IDefine and the Kleefstra community?  Join our IDefine Slack Channel!  

  • Sleep Study Enrollment:  We are looking for participants for an inventory study on sleep within Kleefstra syndrome. Anyone older than 3 years with Kleefstra syndrome can participate in this study. Participation is voluntary, and if interested, please reach out to sleep.gen@radboudumc.nl

  • Committee Formation: IDefine is pleased to announce the formation of a committee focused on diversity, equity, and inclusion.  Would you like to be involved in assisting us with this important initiative?  Please reach out to unlock@idefine.org to discuss further!

  • Host a Fundraiser and Get Involved: We invite you to lean into our effort to build a brighter future for our loved ones.  IDefine is seeking help for conference planning, community development, and fundraising.  If you are interested in helping to push our initiatives forward, please reach out today at unlock@idefine.org.  Help define a new future!


IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309

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