An Inside Look at the Beggs Lab and a Call to Action for the NM Community
Recently, A Foundation Building Strength’s Executive Director, Jen Tozer, had the opportunity to visit the renowned Beggs Lab at Boston Children’s Hospital, home to the groundbreaking AFBS funded Nemaline Myopathy Biobank. From getting a chance to see how these valuable tissue samples are stored to visiting with the lab’s team scientists and catching a glimpse of their novel experiments, this visit provided a firsthand look at the incredible work being done to advance research and accelerate the development of treatments for Nemaline Myopathy (NM).
The Beggs Lab Nemaline Myopathy Biobanking Program: A Center of Knowledge
Under the leadership of Dr. Alan Beggs, a world-renowned expert in genetics and muscle biology and Co-Chair of the AFBS Scientific Advisory Board, the Beggs Lab is at the forefront of Nemaline Myopathy research. The NM Biobanking Program is a central repository for NM tissue samples, serving as a vital resource for researchers worldwide.
Empowering the NM Community Through Participation
The Nemaline Myopathy Biobank actively collaborates with AFBS and the NM community to collect clinical information, DNA, and muscle tissue from individuals with NM.
During enrollment, staff will collect clinical information and give participants the opportunity to submit a saliva or blood sample for DNA analysis. If you have a surgery coming up, please notify us promptly. With prior notification, staff can also coordinate with surgical teams to collect a small tissue sample during an enrolled participant’s procedure for future research exploring their exact subtype of NM.
This comprehensive approach ensures a diverse collection of samples, representing a wide range of ages and genetic subtypes.
Key features of the Nemaline Myopathy Biobank program include:
- Accessibility: Participation is free of charge to patients, making it possible for anyone affected by NM to contribute to research.
- Genetic Testing: Participants who have received an inconclusive genetic result may be eligible for further testing.
- Centralized Resource: The biobank houses a wide range of samples, carefully stored and cataloged for future research.
- Open Access: De-identified specimens will be made available to the broader NM research community.
- Contact Registry: Maintaining a participant registry enables follow-up and facilitates recruitment for future studies including the upcoming AFBS-funded Natural History Study.
A Call to Action: Join the NM Biobank
The success of the Nemaline Myopathy Biobank relies on the active participation of the NM community. By donating tissue samples, individuals with NM can play a crucial role in driving research and accelerating the development of new treatments.
The more samples we acquire from patients, the more tissue we can distribute to expert research teams around the world who study NM, ultimately giving us a clearer picture of the disease, its progression, and potential pathways to treatment.
To learn more about the NM Biobank and how to participate, please fill out this brief interest form and a member of our staff will assist you.
Donate to AFBS: Your monetary gift will support critical research and provide vital resources for NM families.
Stay Connected: Sign up for our email list to receive the latest updates from AFBS and learn more about NM research. Are you an individual or a caregiver of an individual affected by NM? Fill out the AFBS Contact Survey so we can connect you with valuable resources, support, and opportunities to get involved with upcoming research studies!
Together, we can build a brighter future for individuals and families affected by Nemaline Myopathy.