Kabuki UK & MRCC Information Day Sets New Standard in Rare Disease Community Engagement and Research
In a milestone gathering that brought the UK’s foremost experts on Kabuki syndrome under one roof, the Kabuki UK Information Day, hosted in collaboration with the Manchester Rare Conditions Centre (MRCC), has set a new standard for patient and medical community engagement. The event, which was attended by a sold-out audience including patient advocacy groups from the Netherlands and Spain, underscored the global impact and recognition of the UK’s leadership in Kabuki syndrome research and care.
The day was a resounding success, offering a wealth of knowledge to parents, caregivers, and individuals living with Kabuki syndrome. Professor Siddharth Banka and his team at the Manchester Rare Conditions Centre provided an enlightening update on ongoing research initiatives, making significant strides towards understanding this rare condition.
Keynote presentations from Dr. Clara Tang and Jessica McAndrew of the Kabuki Syndrome Foundation offered invaluable insights into global research initiatives and the foundation’s drug development roadmap. Their presence underscored the collaborative spirit of the day, highlighting international efforts to advance the understanding and treatment of Kabuki syndrome.
The event’s comprehensive agenda covered critical aspects of Kabuki syndrome, from clinical challenges to the latest in research developments. Professor Siddharth Banka, a beacon in the field, an instrumental figure at the MRCC, and member of the Kabuki Syndrome Foundations Medical and Scientific Advisory Board, led discussions that delved into the neuropsychology of Kabuki syndrome, stem cell research applications, and the development of clinical guidelines.
Guest speakers, including Prof. Dr. Connie Stumpel and Prof. Hans Tomas Bjornsson, enriched the day’s discussions with their groundbreaking findings and research objectives, funded in part by the Kabuki Syndrome Foundation’s 2023 Research Grant. These contributions provided attendees with a glimpse into the future of Kabuki syndrome treatment and care.
Sally Trewartha, Kabuki UK Chairperson, expressed her gratitude and optimism, stating, “This event has been an extraordinary platform for connection and learning. The commitment and enthusiasm displayed by everyone involved give us great hope for the future of those affected by Kabuki syndrome.”
Professor Siddharth Banka reflected on the day’s achievements, “Today marks a significant milestone in our journey towards understanding and effectively treating Kabuki syndrome. The collaboration and shared dedication we’ve seen promise to accelerate our progress in ways that were once unimaginable.”
The overwhelming success of the Kabuki UK Information Day not only celebrated the advancements made in treating Kabuki syndrome but also solidified the condition as an ongoing focus of the Manchester Rare Conditions Centre. This dedication ensures that Kabuki syndrome will remain at the forefront of rare disease research and treatment efforts.
For those looking to contribute or learn more about Kabuki syndrome and the ongoing research efforts please visit Kabuki UK’s website.
