Asociación Kleefstra Espa?a

Join the #ERCStG project, #FRAILIFE , exploring the impact of child disability on family life. We are looking for a #ResearchAssistant to contribute to this meaningful work for one year, starting January 1, 2025. Position Details : Focus : Child disability, family members' life course, and life outcomes Data : European register and survey data Core Tasks : Literature review, data cleaning, and analysis Requirements: Proficiency in Stata or R If you are eager to learn hands-on research, dive into a critical topic, and collaborate with a team of passionate experts at dondena center bocconi university, apply here: https://lnkd.in/dA6UytJa. ?? Deadline to Apply: November 14, 2024

From the Asociación Kleefstra Espa?a, we share in the pain of everyone affected by the DANA storms. The families that make up this association want to contribute our small part ? to support FEVADIS - Federación Valenciana de Personas con Discapacidad Intelectual in rebuilding their centers and services in Aldaia, which are dedicated to families, children, and young people with disabilities. We send you all our support and affection, and we’re here in case there’s anything more we can do to help. #dana #support

In a few days' time, Dr María José Barrero from the Instituto de Salud Carlos III will give an insightful presentation on the innovative project entitled 'Optimisation of antisense therapies in a neuronal model of Kleefstra syndrome'! Through her study, we will discover how cutting-edge research is paving the way towards revolutionary treatments for Kleefstra syndrome, a rare neurodevelopmental disorder that still has no treatment or cure. Dr Barrero will take us through the latest advances in antisense therapies and their incredible potential to transform lives for people affected by this condition. We will learn, engage and be inspired by the future of medicine for rare genetic neurodevelopmental disorders. Projected cofunded by the Fundación Inocente y Asociación Kleefstra Espa?a #KleefstraSyndrome #NeurodevelopmentalDisorders #AntisenseTherapies

The news of Sammy Basso’s passing deeply saddens us. More than an advocate and former Black Pearl Awardee, Sammy used his experience with Hutchinson-Gilford to become a powerful voice for change. At just nine, he founded l’Associazione Italiana Progeria Sammy Basso. Later on, he became a molecular biologist and researcher, and succeeded in uniting people in raising awareness and supporting research on his condition and rare diseases?in?general. His love for life shone through his travels, as seen in the documentary Il viaggio di Sammy, and his warm connections with everyone he met, including many at EURORDIS. We are holding his family, friends, and all who were inspired by his remarkable life in our hearts. ???

Huge thanks to Lottie Morison and Angela Morgan for this very practical research program which is helping us link families to expert advice and guidance You are #rarelegends x

Hoy celebramos el día Internacional del Síndrome de Kleefstra. En esta entrevista, una madre da voz a todas las familias que vivimos con una persona con #síndromedeKleefstra. Gracias por la visibilidad un día como hoy https://lnkd.in/e9kPHAic #Kleefstrasyndrome #kleefstrawareness

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

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.

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

?? IT'S OFFICIALLY RARE DISEASE DAY ACROSS THE GLOBE ?? Join us in marking Rare Disease Day 2024 now that it's finally here! Let's unite in solidarity with the millions worldwide living with rare diseases. ?? Spread awareness, share stories, and show support for them. Together, we can make a lasting impact and shine a light on these often overlooked! Let's make today count by raising awareness and advocating for those who need it most. Every voice matters in the fight for understanding and support. Visit our website to find out more:https://lnkd.in/gk6hbAF . . #RareDiseaseDay #ShareYourColours #LightUpForRare #Awareness