In this edition:

  • Meet Tanja Draksler, a KS Mom and research scientist lending her talents to IDefine
  • International “KleefstraChat" Crosses Boundaries for KS Progress
  • Rare-X Launch!
  • Plus a roundup of other KS-related feel-good news

Data and parents will be the key to a cure, says KS mom, researcher

IDefine was founded in 2020 by a group of U.S.-based parents seeking answers for their children living with a Kleefstra Syndrome diagnosis. However, because KS is rare and it knows no borders, in just over a year, the organization has intentionally connected with experts worldwide and established a global presence.

Dr. Tanja Zdolsek Draksler, a research project manager in information technologies at the Jožef Stefan Institute (JSI) – the leading Slovenian scientific research institute specializing in natural sciences, life sciences and engineering – is one of those experts. She has also played a key role in helping IDefine make international connections.

Tanja lives in Slovenske Konjice, Slovenia with her husband, Martin, and their daughters Zala, 7, and Adja, 5, who was diagnosed with KS in 2019. Although Adja is a very happy child who enjoys her swing, books, swimming, helping out in the kitchen, and being surrounded by family, Tanja feels an urgency to take action. 

Because she has expertise with research projects dealing with artificial intelligence, machine learning, and data mining, among other areas, Tanja began reaching out to see where her skills might be able to make a difference. First, she connected with Dr. Tjitske Kleefstra about possible research collaborations and working on joint European research proposals. Then, after learning about IDefine around the time of its inaugural International Family and Scientific Conference – Tanja reached out to offer her services.

Read more


International “KleefstraChat" Crosses Boundaries for KS Progress

On Thursday, June 17th, international representatives from the Kleefstra Syndrome patient community met to launch a series of discussions aimed at strengthening the global effort.  The group is comprised of both formal and informal group leaders, and we intend to meet monthly to discuss relevant topics. 

Our initial call centered around current Data Collection initiatives, the importance and complimentary nature of each, and how it is one of the most singularly important efforts that our patient families can participate in.  We look forward to strengthening our global communication to keep the extended community informed as to all of the exciting work being done!

Rare-X Data Collection Platform Launches with IDefine!

Last month, we held a webinar with Megan O'Boyle, rare disease mom and Patient Engagement Lead at Rare-X, and Tom Hume, Director of Marketing and Communications at Rare-X.  We walked through the platform and how patient families can "own it!"  Parents are the driving force in the rare disease community!

The Rare-X platform enables the gathering, structuring and sharing of critical patient data at scale, that will accelerate diagnosis, disease understanding, and development of future treatments and cures.

For patient and patient families, participating in this effort is one of the most important and critical efforts you can do.  Patient reported outcomes (PRO) derived from these surveys will supplement clinical reported data to create a robust and deep data collection set for KS.

Access the webinar recording and the Rare-X portal.


Quick Clips on Kleefstra

  • ATTENTION! Moving forward, the Kleefstra Clinic in Boston will no longer be able to see out of state patients via telemedicine for an initial visit.
  • CORPORATE MATCHING PROGRAM! Double the Donation – does your company offer a match?
  • RISE ABOVE: Join us on September 18th for our event in honor of Kleefstra Syndrome Awareness Day

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

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