Pre-Conference Workshop Day

Workshop A: Overcoming a Major Bottleneck in NMD Clinical Development - Genetic Testing
Tuesday, December 1 | 10:00am – 12:00pm

Interpretation of genetic tests is paramount for effective clinical management for neuromuscular drug development. This workshop aims to help you tackle the mammoth challenge of genetic testing for neuromuscular disorders. Dive into this session and evaluate obstacles and advantages of each method case by case. This session aims to address the following:

  • Understanding, ordering and interpretation of genetic tests for clinical management
  • Dissecting each approach, single gene tests, disease panels, nucleotide repeat expansion testing, mitochondrial DNA sequencing, whole exome sequencing, copy number variation, and whole genome sequencing
  • Discovering new genetic testing platforms that are being developed, how laborious or expensive are they?
  • Examining patients diagnosed through NGS and evaluating this technique
  • Accelerating the drive towards personalized and precision medicine

Leave this workshop with the knowledge to help you and your team confidently make a rational selection of the various genetic tests available and interpret the results to optimize your clinical management.

Workshop Leader:

Maria Judit

Maria Judit Molnarm
Professor of Neurology, Psychiatry & Clinical Genetics, Director of the Institute of Genomic Medicine & Rare Disorders 
Semmelweis University

Workshop B: Examining Approaches to Preclinical Studies – How can we Best Leverage these for Clinical Success
Tuesday, December 1 | 13:00pm-15:00pm

This workshop aims to dissect the use of appropriate model systems for valuable preclinical studies and will address the following topics:

  • How best can we gain biologically meaningful endpoints in your preclinical development of therapeutic strategies and agents?
  • What are the best toolkits developed for genetic and molecular biological research that we should leverage in our preclinical models?
  • What quality of data is adequate for entering a clinical trial? Are companies entering trials too early?
  • Exploring the development of fully reproducible quantitative methods for analysing the dynamics of muscle growth, hypertrophy and regeneration of skeletal muscle and transferring these methods to human studies
  • Approaches to determine the structural interrelationships of cells in intact muscle and resolving the in vivo versus in vitro issues
  • Exploring a sophisticated approach to analyse muscle samples by adopting more quantitative analytical methods

This workshop will equip you with the skills to:

  • Design preclinical experiments to detect effects of therapeutic strategies on muscle size structure and performance
  • Evaluate the significance of evidence from preclinical studies on beneficial effects of candidate therapeutic drugs.
  • Identify possible and likely impediments to translation of preclinical to clinical trials and devise ways of minimizing such impediments

Workshop Leaders:

Terry Partridge

Terry Partridge
Professor of Integrative Systematic Biology
Children’s National Medical Center & George Washington University

Eric Hoffman

Eric Hoffman
Associate Dean of Research, SUNY Binghamton School of Pharmacy, CoFounder & VP
ReveraGen Biopharma