We're continuing our popular East Paediatric Genomics Forum into 2025 with two great sessions for January and February.
January 2025: The power of trio analysis
On Thursday 23 January 2025 we're pleased to be joined by Isabelle Delon, Consultant Clinical Scientist / Head of Rare Disease Service at the East Genomic Laboratory Hub (GLH) who will be speaking about The power of trio analysis; why we should aim to obtain parental samples for WGS testing
Isabelle will be joined by our Education and Training Lead, Gemma Chandratillake, to demonstrate, with cases from East GLH, how including parental samples:
- increases the chance of a diagnosis for your patient
- decreases the chance of uncertain results
- decreases the chance of incidental findings
- saves the lab scientists' time
February 2025: Imprinting Disorders
On Thursday 27 February 2025 we'll be joined by Dr Veronica Govender, Consultant Community Paediatrician at Bedford Community Services who will be speaking about Imprinting Disorders.
Isabelle will be joined by our Education and Training Lead, Gemma Chandratillake, to cover:
- An introduction to imprinting disorders
- A case study - Temple Syndrome (presentation, testing and ongoing management)
