Friday May 27th 2022

09:00-10:30Scientific Session 4
9.00 Variable clinical expression of Arg2435His RYR1 variant across multiple generations: the blind men with an elephant.
Silva MS
9.15 Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility
Jennifer J. Johnston
9.30 Classification of 346 RYR1 variants using the EMHG scoring matrix
Kathryn Stowell
9.45 RYR1 variants database
Thierry Girard
10.00 Guest Lecture: Approaches to identifying genetic modifiers
Dr Mark Iles, Leeds Institute for Data Analytics, University of Leeds
10:45-11:15 Coffee
11:15-12:45Scientific Session 5
11.15 Functional analysis of RYR1 variants identified in IVCT positive individuals
Yuko Noda
11.30 Induced Pluripotent Stem Cells as a tool for the functional characterisation of RYR1 variants in Malignant Hyperthermia.
Catherine Daly
11.45 The use of CRISPR/Cas gene editing to generate Cpt2 and Pygm mutants in primary mouse myoblasts harbouring the p.G2435R heterozygous Ryr1 mutation.
Rohan Paranjpe
12:00-12:45Scientific Session 6
12.00 Cellular bioenergetics in primary myotubes from mouse models of MH.
Vikas Kaura
12.15 Identification of potentially pathogenic variant combinations associated with susceptibility to malignant hyperthermia.
Christine Diggle
12.30 Identification of potentially pathogenic variant combinations associated with exertional heat illness.
Philip Hopkins
12:45-14:00Lunch
14.00 EMHG Guidelines update
Klaus Glahn
14.45 EMHG Working Group report: Variant characterisation
15.00 EMHG Working Group report: Research Priorities
15:15-15:45Tea & Cakes
15:45-17:00 Annual General Meeting of the EMHG & Award of Prizes>
(Incorporating Board of Directors Part 2)
17:00Close of Meeting
19.30 Optional Dinner