Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes

This episode of the Progress Educational Trust (PET) podcast discusses how to improve diagnosis, treatment and support for people affected by rare and inherited metabolic diseases.

The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

⚫ Jonathan Gibson (Lead for Campaigns and Communications at the charity Metabolic Support UK)

⚫ Dr Srividya Sreekantam (Consultant in Paediatric Metabolic Medicine at Birmingham Women's and Children's Hospital NHS Trust)

⚫ Professor Evangeline Wassmer (Consultant in Paediatric Neurology at Birmingham Women's and Children's Hospital NHS Trust)

⚫ Professor Frances Platt (Professor of Biochemistry and Pharmacology at the University of Oxford)

⚫ Dr Julien Baruteau (Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital for Children)

All of us who live, breathe, eat and think are able to do so thanks to our metabolism – the set of chemical reactions via which substances are transformed inside our bodies, in order to sustain the functioning of our cells, tissues, organs and systems.

Our metabolism enables us to obtain usable energy from the food that we consume, and then get rid of toxins that are left over. All of this is in turn dependent on our DNA, which tells our body how to manufacture certain molecules that make metabolism possible.

A vast range of diseases can disrupt human metabolism, and thousands of these diseases can be inherited. Such inherited metabolic diseases are rare, in the sense that the precise cause and consequence of each disease occurs in a relatively small number of people. Collectively, however, inherited metabolic diseases are common.

Many inherited metabolic diseases affect the central nervous system, but such diseases can potentially affect any of our bodily systems. The impact of such diseases – on children, adults and families – can be devastating.

In this podcast, experts and advocates – including the pioneers of relevant medications, and of a gene therapy that involves genome editing – discuss how best to address challenges posed by rare and inherited metabolic diseases.

Aspects discussed include diagnosis, treatment, support and broader public understanding.

PET is grateful to Amicus Therapeutics for supporting this discussion.

PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.