Dear Community,
As we step into the middle of the year, we’re filled with a sense of urgency and hope. Our mission to accelerate research and find a cure for KIF1A Associated Neurological Disorder (KAND) remains our guiding light. Right now, we are focused on raising money to begin Phase 2 of our Treatment Accelerator Program and enrolling all KAND patients in our natural history study, ASCEND.
Angie Fuller, Director, KIF1A.ORG, Angie@kif1a.org
Upcoming Meetings
We have some exciting meetings lined up for June:
- 6/11 Epilepsy Listening Session: A meeting to hear directly from parents and patients about their experience with epilepsy, the effectiveness and side effects of current treatments, and their hopes for future drug development.
- 6/20 NeuCyte Community Call: Our research partners at NeuCyte will provide an overview of our Treatment Accelerator Program, discuss the milestones we’ve achieved, outline our future plans, and answer any questions you may have about Phase 2 of our program.
- 6/27 Fundraising Strategy Session: Join us to learn how you can help raise funds for our mission!
Call to Action: Natural History Study Enrollment
We urgently need your help to accelerate our research. Enroll in our Natural History Study, ASCEND, at Boston Children’s Hospital. Your participation is crucial to unlocking the characteristics of KAND and helping us find a cure.
KOALA visits are now being scheduled in-person. Please email ASCENDstudy@childrens.harvard.edu to reserve your dates!
Annual Report
We are excited to share our annual report, highlighting our key accomplishments in 2023 and our future goals. Thank you to everyone who made 2023 a success!
Current Events
Our community has been buzzing with activity and we’re thrilled to share some highlights:
- Research Progress:
- Updated KAND Natural History Study article from Dr. Chung in the Genetics of Medicine Journal: Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
- Published: May 20, 2024 DOI: https://doi.org/10.1016/j.gim.2024.101169
- Stay tuned for a blog post summary and further discussions about the findings!
- Updated KAND Natural History Study article from Dr. Chung in the Genetics of Medicine Journal: Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
- Community Engagement:
- 2nd Quarter Community Call video: Private Family Resources
- Sloane’s 1st ASO treatment update
- KIF1A.IT: A new KIF1A Foundation is being created in Italy
- Fundraising Success:
- We’ve raised 40% of our goal to begin Phase 2 of our Treatment Accelerator Program (TAP)!
- Thank you to everyone who has donated! If you haven’t yet, we need your support.
- We’ve raised 40% of our goal to begin Phase 2 of our Treatment Accelerator Program (TAP)!
Science Saturday Recap
- Congenital Ataxia characterization and underlying genetic causes, including KAND
Our journey is a collective one. Each patient, parent, researcher, clinician, academic, industry partner, and community supporter plays a crucial role in our mission. We appreciate your continued contributions to our progress and success.
“Alone we can do so little; together we can do so much.” – Helen Keller
