Date and Time

Thu, 9th Mar 2023, 5:30pm

to Thu, 9th Mar 2023, 6:45pm


Live via MS Teams

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Welcome to the third of our new series of expert webinars. The LinkAGE (Linking Academia and Genomics Education) series will aim to provide expert seminars on exciting ‘bench-to-bedside’ projects that are likely to impact on clinical practice in the not-too-distant future.

Spinal muscular atrophy (SMA) is a group of four genetic conditions that make one’s muscles weaker and can cause movement problems. SMA type 1 used to be a lethal diagnosis, with a life expectancy of less than two years of age. However, the gene-targeted therapy, nusinersen, has revolutionised the treatment of SMA type 1, allowing children to live longer and more-normal lives.

In this LinkAGE seminar, we explored SMA and nusinersen. It was delivered by the Royal London Hospital consultant paediatric neurologist Dr Louise Hartley.

By the end of this webinar, you should be able to:

  • explain the genetic basis for spinal muscular atrophy and the resultant spectrum of disease, including the prodromal phase; and
  • discuss the mechanism of action of the three new treatments now available to treat SMA; and
  • appreciate the range of effectiveness of the treatments and the role of each in the treatment of SMA.

Who is the LinkAGE expert webinar series aimed at?

This webinar series is aimed at researchers, clinicians and other healthcare professionals who already have a strong understanding of fundamental genomics concepts. If you are just starting your learning journey, or need a quick refresher, we encourage you to check out our genetics and genomics learning centre.

Meet the speaker

Dr Louise Hartley works as a consultant paediatric neurologist at the Royal London Hospital, since 2018. She leads the paediatric neurology service for a multi-ethnic community in east London.

From 2003 to 2017, she worked at the University Hospital of Wales, Cardiff, setting up the paediatric neuromuscular service for Wales and initiating the treatment of SMA patients with nusinersen (Spinraza) therapy. Since 2022, Dr Hartley has worked with the neuromuscular service at the Evelina Children’s Hospital London to provide onasemnogene abeparvovec (Zolgensma) gene therapy for children with SMA.

Dr Hartley is also the chair of the British Paediatric Neurology Association (BPNA) distance learning course, where she works with international writers to provide up-to-date teaching material which are accessed by students from all over the world. She also teaches on the BPNA short courses: paediatric epilepsy, neonatal neurology and acute neurology.

How to access the webinar

This webinar can be accessed online via YouTube.