One month countdown for our big event that supports our mission! Limited tickets still available! Southern Roots Reunion is April 12th, in Travelers Rest, South Carolina (outside of Greenville, SC). Our 4th annual event brings in the some of the best chefs in the country to serve up mouth watering dishes with ribs, brisket, oysters and a whole smoked tuna! Mix in local breweries, a day full of music, and a community turning out in support of rare disease research and special needs awareness, and you will see what makes this reunion one people come back to year after year. You won't want to miss this! https://lnkd.in/eXtK-NxF #SouthernRootsReunion #IDefine #Kleefstrasyndrome #Community #RareDisease
IDefine-The Kleefstra Syndrome Foundation
非营利组织管理
Atlanta，GA 320 位关注者
IDefine is committed to identifying treatments & a cure for Kleefstra syndrome (KS) while building the global KS network
关于我们
IDefine is committed to identifying life-changing treatments & cures for those with rare genetic disorders like Kleefstra Syndrome (KS), while building community for families. Our initial concentration is centered around KS, a rare genetic disorder caused by a mutation or deletion of the EHMT1 gene. In consultation with our Scientific Advisory Board, we are pursuing the most promising avenues for drug development, and will "go where the science takes us". A range of approaches are being reviewed, including small-molecule drug repurposing, small molecule drug development, oligonucleotide-based therapies, and gene therapies.
- 网站
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https://www.idefine.org
IDefine-The Kleefstra Syndrome Foundation的外部链接
- 所属行业
- 非营利组织管理
- 规模
- 2-10 人
- 总部
- Atlanta，GA
- 类型
- 非营利机构
- 创立
- 2020
- 领域
- Kleefstra Syndrome、Drug Development、Intellectual Disability、Charity、Fundraising、Rare Disease Research和Non-Profit
地点
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主要
获取路线
US，GA，Atlanta
IDefine-The Kleefstra Syndrome Foundation员工
动态
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IDefine has selected a team to develop advanced cell models of Kleefstra syndrome. In an exciting new project, the laboratory of Angels Almenar-Queralt, an Assistant Professor in the Department of Pediatrics at UC San Diego, will develop sophisticated neural organoid models of Kleefstra syndrome under a $100k award from IDefine. Read more here: https://lnkd.in/gcxVj-Qd
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We're thrilled to welcome Matthew Fuller to our Scientific Advisory Board!??? Matthew brings a wealth of expertise as the Head of Gene Therapy Research at Ultragenyx.?He leads the execution of program and platform research in Ultragenyx’s gene therapy platforms and programs, and he has a passion for innovation that aligns perfectly with our mission. His insights will play a pivotal role in the continued development of our research program. Join us in giving Matthew a warm welcome as we embark on this exciting journey together!?
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Publication alert! Our amazing partners in the Kleefstra syndrome clinic at Boston Children's Hospital have released new findings on #kleefstrasyndrome based on the large pool of patients they have been able to evaluate at the clinic. This work was made possible by the KS community, who helped support the clinic and showed up in huge numbers to be evaluated. Thank you!
Kleefstra syndrome, a neurogenetic disorder, now has a dedicated clinic at Boston Children’s developed in partnership with the patient advocacy group IDefine-The Kleefstra Syndrome Foundation. A new report, based on its first 65 patients, defines its spectrum of clinical features and corresponding genotypes. This refined understanding should help improve clinical care and inform research and future therapeutic initiatives. The work was supported by the Rosamund Stone Zander Translational Neuroscience Center and IDefine. Read the paper ?? https://ms.spr.ly/6041oNrj1 Learn about one patient with Kleefstra syndrome and our ongoing research: https://ms.spr.ly/6042oNrjG
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Exciting news: Q87.86, the ICD-10 code for Kleefstra Syndrome, is now live in the US! We have confirmation from clinicians in the field that they can see the new code in their systems. Clinicians: now is the time to update the coding for your KS patients so they can be properly tracked in your system! Patients: please ask your care team to enter the new code at your next clinic visit! If you’d like a card to bring to your appointment, you can download it here: https://lnkd.in/gtuzkiJm For more information on the importance of ICD-10 codes, please see the article by IDefine CSO Eric Scheeff written at the beginning of this process:?https://lnkd.in/gMswqcnP The awarding of this code by the US CDC is the result of a lot of hard work by Eric Scheeff, Boston Children’s Hospital Kleefstra Clinic director Siddharth Srivastava, and Tjitske Kleefstra. And of course, the efforts of the Kleefstra Syndrome community, who supported us along the way. Thank you!
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?? Today is KS Awareness Day! Join us in Celebrating Impact and Community at IDefine ?? Our Impact Report showcases the progress made possible by our amazing partners, dedicated clinicians, researchers, and the resilient KS families who inspire us daily. ?? Key Highlights: ??Marking our 4th year sponsoring the KS Clinic at Boston Children’s Hospital, with over 100 patients seen! ??Achieving a new ICD-10-CM code for KS: Q87.86, effective October 1! ??Hosting the second KS Family Conference with more than 270 attendees, bringing our community closer together. ??Expanding our KS Worldwide Map and Census Project to include 751 patients, strengthening our global network. ??Collecting nearly 50 blood samples for two unique KS biobanks, advancing research efforts. ??Funding cutting-edge research projects aimed at finding treatments and cures for KS. ??Mentoring three new rare disease organizations, helping them grow and make an impact. ??Building a network of leading clinicians and researchers dedicated to KS. We are deeply grateful to our partners, donors, volunteers, and especially the KS families who inspire us to keep pushing forward. Your support drives our mission and fuels hope for a brighter future! ?? Read the full Impact Report here: https://lnkd.in/eXmyjp6Q Thank you for being part of this journey. Together, we define the future! #kleefstrasyndrome #KSDay2024 #RareDisease #Research #Healthcare
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Two exciting publications have just been released from the #KleefstraSyndrome scientific research community!
Double hit Rots et al! ? Back-to-Back publication in American Journal of Human Genetics both KMT2C & EHMT1 manuscripts are now available online. Here is the link for access to KMT2C study:? https://lnkd.in/dCgS8zCS Here is the link for access to EHMT1 study: https://lnkd.in/daDKauYG Thanks to all colleagues, patients and families who contributed to this huge international effort with important impact on genetic counseling and patient care. Dmitrijs Rots, Arianne Bouman, Lisenka Vissers, Rosanna Weksberg, Sanaa Choufani, Siddharth Banka, Victor Faundes Gomez, Ayumi Yamada, Yoichi Shinkai. Team #BostonChildrensHospital #ErasmusMC #Radboudumc #IDefine #IDefineEurope #ZeldSamen #KleefstraSyndromeUK
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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 Zo? Frazier Meredith Goodwin Repik Alysson Muotri Paul A. Smith Scott Dindot Scott Galasinski
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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
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Great opportunity for our community to learn more about communication in #KleefstraSyndrome https://lnkd.in/gWNCRpR8
Next week we are holding a webinar on our recent research on '#Speech, #language and #communication in #KleefstraSyndrome'. This webinar is for Australian and New Zealand Kleefstra syndrome families, clinicians, caregivers and support people, or anyone else who is interested in Kleefstra syndrome! If you or someone you know would like to attend this webinar on Thurs 18th April 7pm AEST please follow the instructions in the flyer below.
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