This conference will explore the potential for the utilization of precision medicine approaches for the treatment of neuromuscular disorders (NMDs), particularly the congenital muscle weakness (myopathies/dystrophies). The conference’s sessions will focus on the most up-to-date research, knowledge and discoveries relating to the treatment of particular congenital muscle dystrophies that investigations have shown to be most prevalent in the State of Qatar. The conference will also address the challenges facing implementation of such treatments and will outline ongoing international efforts to overcome these challenges. The conference, via the experts’ panel, also aims to improve and accelerate understanding of clinical and molecular diagnostic approaches to NMDs among physicians, scientists and patients.

Kindly note that January 11th and 12th are the accredited days of the activity. The third day, Jan 13th,  is a public forum which is not accredited.  

Background

Neuromuscular disorders (NMDs) are a genetically and clinically heterogeneous group of inherited neurological diseases that result in progressive muscle weakness, loss of independent mobility, and involvement of the cardiac and respiratory muscle functions.

Failure to thrive and associated complex comorbidities characterize the congenital muscle dystrophies subgroup. The genetic classification and distribution of subgroups of NMDs differs between populations.

An initiative collaborative research between Weill Cornell Medicine-Qatar, Hamad Medical Corporation and Sidra Medicine,  funded by Qatar Foundation- Path Toward Personalized Medicine Grant’s Program, was the first to investigate and identify the prevalence and the genetic classification and characteristics of NMDs in Qatar. Identification of the specific genes and mutations underlying the diseases of this group is a principal requirement for precision medicine involving the prevention of disease recurrence in families and individualized therapeutic approaches.

The translation of research from the laboratory to the clinic in the field of NMDs has been highly successful internationally, resulting in new treatment strategies for congenital dystrophies that were previously untreatable. The ultimate future step is to implement personalized medicine approaches, which have the potential to be highly effective.

The main goals of this conference are aimed to:

• Initiate a platform to disseminate and share original science in the field of neuromuscular disorders (NMDs) genomics, proteomics clinical application and therapeutics. This will advance our knowledge with regards to the emerging treatment modalities for the previously untreatable congenital muscle dystrophies;
• Improve the clinical care of congenital muscular dystrophies through the sharing of experiences and dissemination of diagnostic strategies for various subgroups;
• Present the profiles of NMD research and healthcare approaches that are currently ongoing within various institutions in Qatar;
• Develop international collaborative and networking bridges in clinical translational NMD research;
• Increase the local awareness and interest in NMDs within the broader field of rare diseases and advance the opportunity for our local dystrophies and myopathies patients and families to open a dialogue with the invited international experts in the field. This will be accomplished through an open public forum which the patients and families will be invited to join. An Arabic translation service will be provided to facilitate this session.

Anticipated Outcomes

• Facilitate partnerships and networking with well-established bodies in congenital muscle dystrophies and NMDs, involving the patient advocacy groups Cure CMD, TREAT-NMD and EURO-NMD, the largest NMD network;
• Initiate the Qatar Neuromuscular Society, QNMS. This society will have the potential and the aim to build bridges with the European Reference Network of EURO-NMD, thereby promoting the research ecosystem in Qatar;