IDefine-The Kleefstra Syndrome Foundation

Two exciting publications have just been released from the #KleefstraSyndrome scientific research community!

The IDefine Kleefstra Syndrome North American Family and Scientific Conference was a spectacular success! With more than 250 attendees, this year shattered the attendance level of previous events. The conference started out with an intensive Scientific Summit that functioned as a working session for scientists and clinicians to exchange ideas around developing targeted treatments for Kleefstra syndrome. This was followed by a two-day Family Conference that covered topics all the way from community engagement in research, to medical interventions, to life and financial planning. Along the way, many new friendships were made, and a lot of fun was had! The momentum was palpable, from technical exchanges in the scientific community to family support and engagement in the main conference session. We can't wait to see all the exciting things that will result from the new connections made! #kleefstrasyndrome #raredisease Geoff Rhyne Eric Scheeff Andy Klump Matt Lockwood Mason Harrell, MD Tjitske Kleefstra Maya Chopra Kira Dies Nael Nadif Kasri Elizabeth Buttermore Christina SanInocencio, PhD, CPH, CNP Kristen Connors Jonathan Lipton, MD, PhD Siddharth Srivastava Elizabeth Emma Palmer Jessica Cale Mustafa Sahin Zoë Frazier Meredith Goodwin Repik Alysson Muotri Paul A. Smith Scott Dindot Scott Galasinski

New funding opportunity for Kleefstra syndrome and epilepsy researchers! IDefine is delighted to partner with CURE Epilepsy to co-fund a grant to investigate #epilepsy in #KleefstraSyndrome. Interested researchers must submit a letter of intent by June 11. Please see the full announcement here: https://lnkd.in/gvMMS7yK

Great opportunity for our community to learn more about communication in #KleefstraSyndrome https://lnkd.in/gWNCRpR8

A reminder to interested researchers: only 9 days remain to submit a letter of intent for this opportunity! #organoid #assembloid #ipsc #invitro #stemcell

IDefine is delighted to announce an RFA for a project to develop advanced in vitro models of Kleefstra syndrome. Interested researchers should see details in the attached announcement and apply! A letter of intent is due by April 15, and early letters are encouraged. https://lnkd.in/g24yHBVa Eric Scheeff Geoff Rhyne Matt Lockwood Andy Klump Mason Harrell, MD Tjitske Kleefstra Nael Nadif Kasri Scott Dindot Scott Galasinski Alysson Muotri Paul A. Smith

Congratulations to Lottie Morison on her new publication on speech and communication in #KleefstraSyndrome patients! Wonderful to see this work come out. Great job to the research team, and to the community for participating in the research!

A call to action to the #KleefstraSyndrome community: spread the word with your pediatrician about Project FIND-OUT! See the article in our latest newsletter from IDefine CSO Eric Scheeff for more information on this exciting project and how you can help it move forward: https://lnkd.in/gG8aCtiV

IDefine is one of 170 patient orgs that signed a letter of support to call for minor changes to the Inflation Reduction Act (IRA) that will make a BIG difference for rare disease patients. When we join forces in the #raredisease community, we are MIGHTY! Learn more: https://lnkd.in/gv4vatK6

We are at the tail end of our #GivingTuesdaycampaign and we hope that you will consider a gift to IDefine today in celebration of #GivingTuesday! It’s been an amazing year and we can’t wait for what comes next. This coming year our focus areas will be: 1. The 2024 North American Kleefstra Syndrome Family Conference outside of Boston, MA 2. Funding the Kleefstra Clinic team and efforts at Boston Children's Hospital 3. Continuing the development of pre-clinical research tools for researchers working on Kleefstra Syndrome 4. Pursuing a possible ASO-based treatment for Kleefstra Syndrome 5. Building a community of support among our Kleefstra families https://lnkd.in/gbMfUWa8