On the 27th of July we had the online Myology Café meeting, with 26 attendants, from 21 different countries. (Argentina, Australia, Brazil, Colombia, Egypt, Italy, Guatemala, Mexico, United Kingdom, Taiwan, Portugal, Ukraine, Thailand, India, Russia, Germany, Uzbekistan, Paraguay, Costa Rica, Ecuador, Vietnam).
In this Myology Café we had as guests Dr. Ana Töpf and Professor Jordi Diaz Manera, from the John Walton Muscular Dystrophy Research Centre, Newcastle, UK who presented the Latin-Seq Project, a collaborative initiative between the University of Newcastle and Latin American clinical centres involved in the care of patients with neuromuscular diseases, which aims to perform whole exome sequencing to 2,000 Latin American patients affected by a neuromuscular disease.
The project started in 2022 and intends to obtain prevalence data and to enable the investigation of phenotype/genotype of NMD patients from the Latin American region, as well as identification of novel genes. Along with it, Latin-SEQ proposes to support local Latin America centres development in NGS, contribute with clinical data analysis as well as muscle MRI interpretation, amongst other concurrent activities, it also implies a series of training and capacitation webinars to foster awareness and education on the neuromuscular field. So far, there are already more than 40 centres, from 18 Latin American countries integrating the consortium’s project, and registration to the initiative is still possible. If you are interested, please contact:
Contacts Latin Seq:
This article is presented by the
Myology developments across the world Committee.
Published on 11 August 2023.