Masterclasses

Highlights from the April 2021 LGMD Virtual Masterclass

Click on the links below to watch some of the fantastic talks from our experts in our LGMD Virtual Masterclass.

Anna Tof – Benefits and limitations of NGS in neuromuscular disease

Dr Ana Töpf studied Molecular Genetics in her home country, Argentina, and is now a Senior Research Scientist at the John Walton Muscular Dystrophy Research Centre at Newcastle, UK. She joined the team in 2013 and since then has been working and coordinating the next generation sequencing (NGS) projects aiming to help in the diagnostic process of unsolved neuromuscular disease patients. These include large European consortiums, such as MYO-SEQ, NeurOmics and Solve-RD as well as other international collaborations including the Broad Institute of MIT and Harvard and their Centre for Mendelian Genomics, with 2,500 patients being investigated.

Ana is currently the Lead of the Data Interpretation Task Force for the NMD-ERN of Solve-RD. She has co-authored over 90 peer-reviewed articles and has been involved in the genetic work leading to the discovery of several novel NMD genes

Dr Karim Wahbi – Best practice for care management -Cardiological

Karim Wahbi is Professor of Cardiology at the University of Paris, France and head of the reference centre for neuromuscular cardiomyopathies in Cochin Hospital, Paris. He completed his cardiology internship and residency at the University of Paris Descartes. He specialises in the clinical management of patients with cardiomyopathies with a specific expertise in neuromuscular diseases. Key areas of clinical and fundamental research for Professor Wahbi are prevention of heart failure and sudden death and the study of molecular mechanisms underlying neuromuscular cardiomyopathies.

Dr. Bjarne Udd – LGMD phenotypes caused by titinopathies and the dominant LGMDs

Professor Bjarne Udd is Professor of Neurology and Neuromuscular Disorders at the University of Tampere from 2007 and Director of the Neuromuscular Research Center at Tampere University Hospital in Finland from 2004. Moreover he is the PI of the Udd research lab at Folkhälsan Institute of Genetics, Helsinki University from 1999.

His long term clinical research projects cover all areas of neuromuscular disorders but clearly focused on the Distal Myopathies, Myotonic Dystrophies and in particular the Titinopathies. He described the first ever human titinopathy (Tibial Muscular Dystrophy – Udd myopathy) long before the disease was known to be caused by mutations in the TTN gene.  Combining thorough clinical expertise with new pathology methods, MRI and extensive molecular genetic efforts have been the key factors for the successful research that produced publications on some 20 novel neuromuscular diseases over the years.

Dr. Elena Pegoraro – Most frequent recessive forms: DYSF, ANO5 and SGCA

Highlights from the May 2021 DMD Virtual Masterclass

Volker Straub – Emerging Therapies

Volker Straub – Standards of Care

Volker Straub is Professor of Neuromuscular Genetics at Newcastle University in the UK. He is the Director of the John Walton Muscular Dystrophy Research Centre and the Deputy Dean for the University’s Translational and Clinical Research Institute.

Volker’s interest in muscle diseases is in translational research. The overall goal of the Research Centre in Newcastle is to accelerate the development and delivery of treatments for patients with neuromuscular diseases. His current research involves the application of muscle imaging, the use of zebrafish and mouse models, next generation sequencing and other –omics technologies for the characterization of genetic neuromuscular disorders. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD. He is the CI/ PI for a number of natural history and interventional trials in Duchenne muscular dystrophy, limb girdle muscular dystrophy, Pompe disease, spinal muscular atrophy and other NMDs. He is currently the president of the World Muscle Society and an author on >350 peer-reviewed publications.

Annemieke Aartsma-Rus – Genetics the basics

Annemieke Aartsma-Rus – Genetic Diagnosis of DMD

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. She played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004) at the Leiden University Medical Center (the Netherlands). As of December 2007 she became leader of the “DMD exon skip group”. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

She is President of the Oligonucleotide Therapeutics Society (2019-2021) and was chair of the TREAT-NMD executive committee (2013-2016 and 2019-2020). She is vice-chair of COST Action CA17103 (Delivery of antisense RNA therapies) and member of the Core Committee of the TREAT-NMD Advisory Committee for Therapeutics (TACT). She has been selected as most influential scientist in Duchenne muscular dystrophy in the past 10 years by Expertscape based on contributions to the understanding and treatment of Duchenne muscular dystrophy continuously since 2015.

Thus far, she has published over 200 peer-reviewed papers and 11 book chapters, as well as 15 patents and has edited one book. She has given many invited lectures at meetings, symposia and workshops as well as patient/parent organizations meetings, where she is known for her ability to present science in a clear and understandable way. She has created and maintains multiple websites on therapeutic approaches for aimed at patients and parents. In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of this work and her dedication to the Duchenne field. In 2020 she received the Black Pearl Science Award from Eurordis for her work in educating patients in the Duchenne field and other rare disease fields.  She is a member of the Therapies Scientific Committee of the International Rare Disease Research Consortium (IRDiRC). She is co-editor in chief of Nucleic Acid Therapeutics, and serves on multiple editorial boards, e.g. Journal of Neuromuscular Diseases (associate editor), Molecular Therapy, Therapeutic Advances in Rare Disease and Cardiovascular Genetics and Genomics.

She is a member of the TREAT-NMD project ethics counsel and of the TREAT-NMD Advisory Committee for Therapeutics (TACT) and the scientific advisory board of Genethon.

E-learning Expert LGMD Masterclass*

*The LGMD Masterclass which was due to take place as a face-to face meeting in Washington DC on 23/24 September, will now take place as a virtual e-learning event*

The programme, speakers and key topics for the LGMD Masterclass are currently being finalised. A draft agenda is available below. This will be updated to reflect the e-learning modules by July 2020.

Interested applicants are asked to complete an application form. Applications are reviewed by the Chair and Committee who assess a person’s eligibility to attend based on a pre-defined selection criteria with priority spaces allocated to:

• Healthcare providers who demonstrate the greatest need in their short written application
• Healthcare providers who practise in low income countries
• Healthcare providers who specialise in or work closely in an area where a need for improved awareness has been identified.
• Healthcare providers who are the only attendees in a given institution or country

For further Information regarding this event, please see the draft agenda:

TREAT-NMD Expert Masterclass on LGMD_USA 2020_ Programme

To apply for a place, click here:

LGMD 2020 Application Form

DMD Expert Masterclass, Amsterdam, Netherlands:

The 2019 TREAT-NMD DMD Expert Masterclass took place in Amsterdam on 16th-17th May. The event was chaired by Annemieke Aartsma-Rus and Elizabeth Vroom and delegates had the opportunity to hear from experts in the field of DMD about a range of aspects from genetics and new therapies to Standards of Care and physiotherapy. For more information refer to the delegate booklet and report on the event.

DMD Expert Masterclass Delegate Booklet 2019

Post Masterclass Report

An attendee, Anri Human (Sefako Makgatho Health Sciences University), wrote a blog on the 2019 DMD Masterclass which was published in the TREAT-NMD monthly newsletter. To read her article please click here.

SMA Masterclass London, UK

The 2019 SMA Masterclass was co-chaired by two highly respected paediatric neurologists; Professor Nathalie Goemans from Leuven University, Belgium and Professor Laurent Servais from Oxford Neuromuscular centre, UK. The focus of this masterclass was to deliver information on best standards of care, learn about what therapies are available or emerging for both the paediatric and adult population.The programme for the Masterclass can be found below.

DMD Expert Masterclass, Madrid, Spain:

The TREAT-NMD DMD Expert Masterclass took place in Madrid on 3rd-4th May 2018. For further information, please refer to the agenda below.

Expert Masterclass on DMD Agenda 2018

SMA Expert Masterclass, Rome, Italy:

The 2018 TREAT-NMD SMA Masterclass took place in Rome, Italy. Please find the detailed programme of events below.

Expert Masterclass on Spinal Muscular Atrophy 2018

DMD Expert Masterclass, Lisbon, Portugal:

The TREAT-NMD Expert Masterclass took place in Lisbon in 2017. For further information, please refer to the agenda below.

DMD Masterclass Agenda 2017

DMD Expert Masterclass, Warsaw, Poland:

DMD Expert Masterclass, Amsterdam, Netherlands: