The Nemaline Myopathy community joined together in person and virtually for the 2022 SciFam Conference this summer in Nashville, Tennessee, for a four day neuromuscular conference.

Researchers collaborated on their scientific progress and shared their latest discoveries. Presentations included:

  • Pre-clinical testing of a CRISPR/Cas9 based therapy for Nemaline Myopathy, James Dowling, MD, PhD
  • Testing novel genetic therapies for ACTA1 Nemaline Myopathy (NEM3) – Harnessing patient cells, Rhonda Taylor, PhD
  • Correcting muscle function in NM by mutation independent approaches, Vandana Gupta, PhD
  • Uncovering the mechanism of myosin dysfunction in Nemaline Myopathy, Jenni Laitila, PhD
  • Drug Repurposing for the treatment of NEB Nemaline Myopathy, Robert Bryson-Richardson, PhD
  • Fibroblasts derived from nemaline myopathy patients: a useful cellular model for studying the disease and testing pharmacological compounds, Rocio Piñero Perez
  • Collaborative Discussions with Researchers, with AFBS Scientific Director Gustavo Dziewczapolski, PhD and Alan Beggs, PhD
Rhonda Taylor, PHD, Jenni Laitila, PhP, Vandana Gupta, PhD

NM community members and families connected and joined together for the first ever in-person Community Research Partner meeting, with incredible participation and feedback. We want our NM community’s voices heard so we can make monumental progress in research, and this was a huge step in the right direction.

We heard from experts in various fields offering resources and guidance, with presentations including:

  • Orthopedics
  • Care Optimization
  • Physical Therapy
  • Nutrition/Feeding
  • Pulmonary Care
  • Special Needs Financial Planning
  • Body Awareness
  • And much more

An incredible group of individuals hosted the NM Young Adult Panel and shared their dynamic experiences living with NM.

The Kid’s Room was a huge hit with a balloon artist, face painting, science demonstrations, hands on reptile experience, movie night and so much more!

New this year, the Young Adult Room gave teens and young adults a chance to connect with their peers and discuss topics just for them.

Family and friends, both new and old, had a chance to connect in person at the conference, share stories, collaborate and enjoy the conference and the Nashville sights.

All registrants have access to recordings of all presentations, which can be viewed by logging in at