Pre-Conference Focus Day


Pre-Conference Focus Day - Tuesday, 21 February 2023

9.30 am – 12.00pm Workshop A: Discussing the Requirements for Inclusion of Muscular Disorders as Part of Newborn Screening Tests – Lessons Learnt From an NYS Pilot Study

  • Dorota Gruber Assistant Chief, Pediatric Cardiogenomics, Cohen Children's Medical Center
  • Rodney Howell Professor and Chairman of Pediatrics Emeritus, University of Miami


Early detection and treatment of muscular disorders could improve treatment outcomes. Join this deep dive session discussing the obstacles to implementing muscular disorders into standard new born screening tests.

Attend this workshop to learn about:

  • What is needed for muscular disorders to be included in the recommended newborn screening panel(s)
  • Benefits of early detection of complex genetic conditions despite absence of cure and limited treatment options
  • Discussing the requirements for a gold-standard protocol across different institutions
  • Overview of NYS pilot and its outcomes

1.00 pm – 3.30 pm Workshop B: Evaluating the Progress of Pre-Clinical & Clinical Studies Focussed on Therapies Targeting Cardiac Muscle


Participate in this collaborative session to understand the complex landscape of gene therapy geared towards targeting cardiac muscle and discuss improvements for achieving specificity in targeting cardiac muscle.

Attend this workshop to learn about:

  • Receiving updates on pre-clinical and clinical trial progress
  • Analyzing the current landscape of gene therapy for cardiac muscle research
  • Understanding the difficulties involved when targeting cardiac muscle
  • Exploring the diseases that could benefit from gene therapy targeting cardiac muscle