2023 was a landmark year for the AFBS community, marked by unwavering dedication, meaningful connections, and significant progress in the search for treatments for Nemaline Myopathy (NM). Our Year in Review video is a powerful testament to the collective strength and passion driving this journey.
CONNECTING AND EMPOWERING:
- Six Regional Gatherings: NM families and supporters came together across the world, fostering empathy, sharing experiences, and building community.
- Amplifying Voices: The PCORI sponsored “Amplifying the NM Community’s Voice” webinar series brought community members together for insightful discussions on pressing topics, empowering patients to shape research priorities.
- Youth Ambassadors Rise: Kate Mitchell, Greta Baier, and Ellary Kinnane launched the new @afbsyouth Instagram account, engaging young members and creating a supportive space for their stories. You can follow Kate, Greta, Ellary, and their friends here!
KNOWLEDGE AND COLLABORATION:
- Expanding Expertise: AFBS team members actively participated in leading conferences, sharing insights and forging vital connections with the global rare disease and muscle disease communities. A Foundation Building Strength represented and advocated for the NM Community at the Chan Zuckerberg Initiative Science in Society Annual Meeting, Global Genes’ Rare Advocacy Summit, and the World Muscle Society Congress.
- New Resources: The NM Resource Kit, Awareness Card, and updated website provide valuable information and tools for families.
FUELING THE FIGHT:
- Fundraising Triumphs: Dedicated families and supporters held numerous fundraisers like LoveLiv Cycle for Strength, New York City Marathon, Boston Marathon, and A Weekend of Building Strength, raising crucial funds for research.
RESEARCH BREAKTHROUGHS:
Your continued support has allowed AFBS to invest heavily in leading edge NM research including:
- 3-Year, $1 Million Natural History Study: This landmark collaboration with six research institutions will deepen understanding of NM progression and pave the way for new therapies.
- Dr. Gupta’s Research: A 5-year, $1.2 million commitment supports the development of NM treatments through repurposing existing drugs and exploring gene therapy approaches.
- New NM Biobanking Program: This secure repository for tissue samples aims to advance scientific understanding and therapeutic development for Nemaline Myopathy.
- More New Research Initiatives: Development of Gene Therapy for ACTA1-based Nemaline Myopathy by Dr. Afrooz Rashnonejad at Nationwide Children’s Hospital. NEM6: From Pathophysiology to Therapy: The Team at Amsterdam University Medical Center (UMC), Radboud UMC, Leiden UMC, Netherlands will use the therapeutic approach of Knocking-down the mutant KBTBD13 hoping to prevent and reverse disease development in NEM6. Identifying and Correcting the Pathological Drivers of Nemaline Myopathy in Stem Cell-Derived Engineered Skeletal Muscle Tissues by Dr. Mack at University of Washington. Soft Robotic Garments for Assisting Lower-Limb Function in Children with Nemaline Myopathy by Dr. Realmuto at University of California, Riverside. Exploring the Potential of Mavacamten as a Treatment for Nemaline Myopathy by Dr. Jenni Laitila and Dr. Julien Ochala at University of Copenhagen, Denmark.
To read more about these exciting new developments in AFBS funded research , visit our Research page!
2023 was a year of tremendous progress, but the fight for treatment continues. By amplifying voices, fostering collaboration, and fueling research, the AFBS community is building a brighter future for individuals living with NM. Let’s celebrate these achievements and continue driving progress together in 2024 and beyond!