Eric Scheeff’s Post

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

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

Yesterday my first PhD paper was published with a team of collaborators in Journal of Medical Genetics: “Expanding the phenotype of #Kleefstrasyndrome: #speech, #language and #cognition We were very fortunate to have the support of clinicians, researchers and, most importantly, Kleefstra syndrome families and support organisations internationally to allow us to publish the largest cohort of individuals with Kleefstra syndrome to date. This research elucidates the speech and language profile of a group of individuals with Kleefstra syndrome for the first time to inform therapeutic decision making and prognostic counselling. The article is available here: https://lnkd.in/gZUqUkj5

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

I recently had the privilege of presenting at the 2023 International Kleefstra Syndrome Family + Scientific Conference, hosted by IDefine I was able to share the rationale behind my capstone work towards the development of a Disease Concept Model (DCM) for Kleefstra syndrome. DCMs use interviews with patients, caregivers, and healthcare providers to generate a rigorous description of how diseases impact patients and their loved ones, offering crucial insights into their experiences. As scientific knowledge and technology bolstering gene therapies and targeted treatments continue to advance, so do opportunities to bring interventions that make a meaningful difference to rare disease communities. This work is coming at a time of such incredible momentum surrounding Kleefstra syndrome research and advocacy— from recent approval for an ICD-10 code, to IDefine’s partnership with La Jolla Labs to determine the potential utility of antisense oligonucleotide (ASO) therapy as a Kleefstra syndrome treatment! This project is a collaborative effort, and I so am grateful for the guidance and support from my mentors at IDefine, Boston University, and Boston Children’s Hospital. It has been such a pleasure to get plugged into a group of tenacious professionals and advocates and begin to make sense of how I can grow as a genetic counselor who centers rare disease communities in my work. I have also been able to join IDefine as the Patient Outreach Coordinator. Most of my role pertains to managing the Kleefstra Syndrome Worldwide Map, and being a point of contact for newly diagnosed families and for the laboratory through which patients might receive genetic testing that leads to the KS diagnosis. I am so excited about the future and the potential impact that our efforts will have on the Kleefstra syndrome community!