| | | | | | IDefine Europe helps connect Kleefstra Syndrome communities It is estimated that there are about 260,000 Kleefstra Syndrome patients worldwide, only 11,000 of which are in the United States. It’s a statistic underscoring the need for a global effort to develop a targeted treatment for KS. IDefine Europe, Foundation for the Advanced Treatment of Rare Genetic Diseases – a nonprofit, non-government organization established in May 2022 – is leading the way in Europe. Dr. Tanja Zdolsek Draksler of Slovenia was serving as IDefine’s international ambassador, but when not having a formal European organization behind her restricted involvement with the rare disease community there, she decided to establish the NGO. “There are so many differences within Europe and the USA, and these are not only cultural differences, it is the whole setting,” said Tanja, whose daughter Adja, 7, has KS. “Having more organizations across the world advocating for Kleefstra Syndrome and connecting parents and organizations is vital. It is essential that we take certain activities to a regional and continental level. On the other side, as Kleefstra Syndrome is rare, we also have to act globally, so being connected and working hand in hand is key.” Tanja selected the IDefine Europe name because she wants to continue to act as a bridge between communities, and to leverage established links and activities. | | | | | | | | | |  | Receive report on developments across rare disease landscape As a partner of both Global Genes and the data-sharing platform RARE-X, IDefine was pleased to see the two entities merge earlier this year. The joining of forces is expected to lead to an expanded focus on enabling next-generation patient advocacy. In fact, Global Gene’s NEXT 2023 report highlights the central role patients are playing in advancing research and development of rare disease therapies. The report provides an overview of developments across the rare disease landscape and highlights trends in research, diagnosis, development, and treatment, as well as the changing regulatory and financial environment. Read about: - How new genome sequencing technologies are cutting the cost and accelerating the speed of making a diagnosis
- How patients are taking a hands-on approach to research to change the fundamental understanding of some rare diseases.
- What advances were made on the policy front in rare disease and the unfinished work that will be addressed in the coming year.
Fill out the form to receive your free electronic copy of the report. | | |  | Event Spotlight: Greenville, SC Comes Out to Support IDefine! On Saturday, March 18th, the St. Paddy's Day 5k Dash + Bash was held in Greenville, SC! The event, hosted by Palmetto Children's Charity, was held as a fundraiser to benefit two charities: IDefine and Camp Spearhead, a camp for adults and children with special needs. The race and after party were held downtown at Fluor Field, the baseball field of the Boston Red Sox Single A affiliate, The Greenville Drive. Over 1,200 runners came out for the race that included a 5K run, a 1 Mile Dash, and a kids fun run! Afterwards, green beer was enjoyed along with food, community engagement, and a raffle! We are incredibly grateful for the efforts of the Event Chair, Andrea Newman, and the Board members of the Palmetto Children's Charity: Mark Gettig, Kyle Thompson, Chuck Villa, Paul Dilworth, Michelle Dodge, and Fred Bentfeld. Due to their tremendous volunteer efforts, the race was able to surpass $40,000 in donations to the benefitting charities. Amazing work! To catch a glimpse of the day, click on the button below! | | | | | | | | | |  | | | | | | | Quick Clips on Kleefstra -
Sleep Study Enrollment: The research team is excited and grateful to have had over 40 people signed up! As we are reaching the end of our study-period, we are providing a final reminder to sign up prior to the end of this month (31st of March). The more people participate, the more reliable and valuable the survey outcomes will be. Anyone older than 3 years with Kleefstra syndrome can participate in this study. Participation is voluntary, and if interested, please reach out to sleep.gen@radboudumc.nl -
Conference Planning: We are looking for volunteers to help with the planning and execution of our 2023 Conference to be held this September! If you are interested in helping further build our community and our impact, please reach out! -
IDefine Slack Channel: Interested in further connecting with IDefine and the Kleefstra community? Join our IDefine Slack Channel! | | | | | | IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org | | | | | | | | | | | |
