2022 Annual Campaign & Research Conference: Case For Support
WHAT IS KABUKI SYNDROME?
Kabuki syndrome is a rare genetic disorder, estimated to affect 1 in 32,000 births. Kabuki syndrome can lead to a broad range of possible adverse health effects, including intellectual disability, immune deficiencies, cardiac and kidney abnormalities, and growth deficiencies, to name a few. It is caused by two known gene mutations, however it is believed that there are possibly other genes yet to be identified. These disruptions in gene expression can lead to multiple health problems, some of which can be debilitating and require lifelong therapeutic interventions.
There is no cure for Kabuki syndrome. But, there is hope. Many Kabuki syndrome research projects are reaching critical junctures in their progress, showing promising results in preclinical studies. With your support, we can accelerate research that will produce life changing treatments
WE ARE LEADING THE WAY
The Kabuki Syndrome Foundation (KSF) is dedicated to accelerating research efforts that show promise to treat or cure Kabuki Syndrome. We drive research by:
- Supporting cross institutional collaboration across key research centers globally, namely Johns Hopkins / Kennedy Krieger and Boston Children’s Hospital, who are influencing the direction of future research efforts
- Engaging the patient community to identify the greatest needs by expanding and qualifying over 200+ community crowdsourcing surveys to identify how those needs can be addressed by ongoing or novel research
- Identifying potential partnerships with biotechnology pharmaceutical companies that accelerate research and explore new therapeutic approaches
- Facilitating meetings with Key Opinion Leaders to identify new or existing initiatives that enforce greater collaboration across institutions and acceleration of promising research.
OUR 2022 IMPACT
Thanks to our very generous donors, in 2022 KSF awarded our first grant of $125,000 toward the development of neurological and neurodevelopmental outcome measures for clinical trials in Kabuki syndrome
- Partnered with the founding members of the Roya Kabuki Initiative to secure program funding
- As a result of our 2021 crowdsourcing survey efforts, KSF is co-authoring a Kabuki syndrome State of Science publication that will outline the research landscape in a centralized document. Targeted publication will be in 2023
- KSF is actively supporting the development of a Kabuki syndrome Clinical Global Impression Scale (CGI- KS), a critical tool that can measure the overall impact of symptoms and treatments during clinical trials
- Through collecting and aggregating over 100 crowdsourcing survey responses, KSF is supporting the expansion of a Modified-Atkins diet trial across ages and genotypes
Over 345 individuals from 20 countries participated in the 2021 KSF Virtual Research Conference.
Participants included 7 patient advocacy leaders, 16 researchers from around the globe, and 3 biotech companies.
Last year, our constituent base experienced a tenfold growth rate, expanding our reach to:
- 1583+ members across our social networks
- 915+ members in our research and donor network
- 8 members of our Scientific Advisory Board from various elite institutions
ANNUAL RESEARCH CONFERENCE
The Kabuki Syndrome Foundation’s Annual Research Conference supports several of our initiatives by facilitating information sharing and collaboration across our community of families, scientists, clinicians and industry partners. It also kicks off our annual fundraising campaign.
This year’s conference will be held virtually on Friday, November 4, 2022 with hundreds of expected participants across the Kabuki syndrome scientific and patient communities. (Registration is now closed.)