KHP Rare Disease Grand Round

From targeted to population: Genomics approaches to rare disease diagnosis in treatable conditions

This Grand Round will be held in partnership with the Evelina Grand Round series. 

Speakers and topics:

Introducing the Generation Study: Newborn Genomic Sequencing for Childhood-Onset Rare Diseases

The Generation Study is aimed at evaluating the utility and feasibility of whole genome sequencing to screen newborn infants for childhood-onset rare diseases. Assessing the performance of genomic screening including accuracy and impact on clinical services are key objectives. Through the National Genomic Research Library, the Study will additionally offer opportunities for discovery research and explore the broader implications of storing an individual’s genome across their lifetime.

Dr Chinthika Piyasena is a consultant neonatologist at Evelina London Children’s Hospital. She is the principal investigator for the Generation Study for her hospital site. She has experience in delivering several research projects and is keen to bring cutting-edge research and innovations to newborn infants so that they may benefit from the latest advancements in medicine. Chinthika is known for her commitment to climate action. She has participated in several cycling events through Ride for Their Lives, which raises awareness about the impact of air pollution and climate change on health.

A new rapid test for Spinal Muscular Atrophy (SMA) and the significant impact of SMA gene therapies

Cheryl Walsh, Deputy Operational Lead of the Monogenics laboratory, Guy’s Hospital

Cheryl started her career in Genetics with her PhD, investigating patients with Pyruvate Dehydrogenase Deficiency.  Cheryl is now an experienced registered Clinical scientist in Molecular Genetics and a fellow of the Royal College of Pathologists.

As well as being a deputy of the Monogenics laboratory at Guy’s hospital, Cheryl leads the Neurology team. Tests include the specialist congenital myopathy and muscular dystrophy services, Duchenne Muscular Dystrophy and Myotonic Dystrophy.

Cheryl will be talking about a new rapid assay her team have developed which shortens the time for testing for Spinal Muscular Atrophy from two days to six hours.  She will be joined by Dr Aoife Flynn, Paediatric Neurologist, who will be speaking about the gene therapies for SMA and the difference this makes for patient lives, and Portia Thorman, patient representative and Head of the Advocacy and Community for the SMA UK Charity.

The grand round will be recorded and will be available to view later on the KHP Learning Hub.