Ana Topf is a Senior Research Associate at the John Walton Muscular Dystrophy Research Centre in Newcastle Upon Tyne in the UK. She’s a geneticist by training and did her degree and Masters in Molecular Genetics in her home country of Argentina, at the Universidad de Buenos Aires. She then moved to the UK to complete her PhD in Biological Sciences at Durham University.

She admits she did not start her professional career in the myology field, but that “life” brought her here. And she’s very glad that it did. Her current areas of neuromuscular disease research are the discovery of novel disease genes and pathomechanisms. At the JWMDRC, she coordinates all the NGS projects for both diagnosis and research. She is heavily involved with data analysis and interpretation. 

While neuromuscular disorders research and treatment is far better supported in the UK than in some countries we cover in these interviews, Ana is committed to providing a much sought-after genetic diagnosis. She says: “Unfortunately, as we know, there are no cures for neuromuscular disorders, and only a few treatment options, yet having a confirmed diagnosis is crucial for disease management and genetic counseling. The most challenging neuromuscular case I have encountered is likely to be our work on the recently described digenic SRPK3/TTN myopathy cohort - and there are still loads to understand!”

When it comes to regional challenges, Ana highlights the lack of resources, particularly staffing shortages in the NHS. But she doesn’t let that slow her down. Describing what she loves most about working with patients with neuromuscular disorders, she says: “It’s being able to provide patients with a diagnosis and, as a consequence, somehow, closure.” 

Ana believes in the power of strong networks to provide the key to developments in our field. She says: “As novel NMDs become rarer (both clinically and genetically), networking and collaborative work becomes key for their multidisciplinary description and understanding. The WMS community 

and the resulting international collaborations are crucial for NMD novel gene discovery. Even after having worked in the NMD field for a good number of years, every single new genetic diagnosis achieved is truly deeply rewarding, even more so if they are caused by novel genes or unusual molecular mechanisms.”