IDefine celebrates two-year anniversary, accomplishments

On September 17, 2020, during the COVID pandemic, IDefine was launched. In the last two years, incredible progress has been made. On this KS Awareness Day, we’d like to reflect on our accomplishments, and share what’s next.

Our theme this year is empowerment, which is evident through the work we’ve done on our three organizational pillars of community, coordinated care, and research.

In just the last two years we have:

  • Raised the funds to launch the Kleefstra Clinic at Boston Children’s Hospital. This has resulted in an incredibly impactful, centralized location for families to visit, and for clinicians to not only further understand KS, but to advise families on their journeys.
  • Held a series of webinars across the globe that have educated and connected our community.

A framework for evaluating neurodevelopmental disorders for gene therapy

With more than 1,000 genetic causes of intellectual disability and autism alone, which neurodevelopmental disorders which should researchers try to tackle with gene therapy, and what are the necessary steps to make that determination? Through its partnerships with the rare disease community – including IDefine – researchers at Boston Children’s Hospital decided a framework was needed for deciding. 

Dr. Maya Chopra, Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Centre at Boston Children's Hospital, is the lead author on a new paper in the journal Molecular Therapy: Methods & Clinical Development, that puts forth such a framework. This collaborative effort that took almost two years of reading and learning and listening to the rare disease community.

The paper is intended for clinicians and researchers building gene therapy programs, scientists in the field of gene therapy research, and rare disease advocacy organizations. Clinicians, scientists, and gene technology companies could use the framework to help focus gene therapy development efforts on conditions with a higher score for gene therapy suitability. Advocacy groups and funding agencies could utilize the framework to identify gaps in the body of research for a specific disorder and direct funding accordingly.

You can read the full paper here.

42-year-old rabbi receives KS diagnosis, connects to community

Rabbi Ilan Glazer of Baltimore is 42 years old, and last month he was diagnosed with Kleefstra Syndrome.

 This discovery came about tragically after Ilan and his wife, Sherri, were told by high-risk pregnancy specialists that their unborn son, Shemaryah, who was conceived through IVF had significant developmental issues leading them to make the heartbreaking decision to end the pregnancy. The University of Maryland genetics team did an amniocentesis to try and determine what caused Shemaryah’s condition and results showed a deletion in the 9th chromosome, which they thought was likely KS.

“They then sent my wife and I for testing to see if we might have a deletion and have passed it on to our son, and they told us that it was extremely rare, and no way would we test positive for a deletion,” said Ilan. “I did.”

Doctors at the Kennedy Krieger Institute told Ilan he has the mildest known case of Kleefstra Syndrome.




Quick Clips on Kleefstra

  • Kleefstra Clips: We have uploaded some beautiful videos of the Parmann and Khoury families to our IDefine YouTube Channel.  Please watch Cecilia's Story and Gabby's Story.  Beautiful and inspiring.

  • State Proclamation Requests:  Great job by Margo Metzger on having North Carolina recognize September 17th as Kleefstra Syndrome Awareness Day!  Let's get a jump on next year to raise awareness!  We are asking that a family from each state request that their governor declare Sept. 17 as KS Awareness Day annually by submitting this proclamation. These ceremonial documents can influence policy discussions, public awareness and offer opportunities to engage with elected representatives. To ensure we are coordinated, if you are interested in submitting on behalf of your state, please reach out at  

  • Kleefstra Syndrome Census Project:  We are working to get an accurate count of the number of patients across the globe!  Join the Worldwide Map and be counted! 

  • 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  Help define a new future!


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

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