About this event

  • Date and time Wed 19 May 2021 from 9:25am to 5:00pm
  • Location Online
  • Organised by Paediatrics and Child Health

This webinar will provide participants with the fundamental principles of genetic and metabolic medicine relevant to a paediatric career, with an appreciation for developments in the field and their associated practical applications.

Learning objectives include:

  • A paediatric approach to clinical dysmorphology
  • Current techniques in genetic testing, including whole genome sequencing
  • Prenatal testing for genetic disorders
  • Principles of genetic counselling, inheritance patterns and ethical dilemmas in genetics
  • Basic principles of inherited metabolic disease and modes of presentation
  • How to approach the diagnosis and management of hyperammonaemia and hypoglycaemia
  • How and when to investigate inherited metabolic disease in the child with neurodevelopmental delay
  • Interactive workshops based on metabolic topics

Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted. 

This webinar is available for on-demand viewing. The webinar recording will be available for registered delegates up to 30 days after the live webinar broadcast via Zoom. The link will be sent 24 hours after the webinar takes place. 

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View the programme

Welcome and introduction

Dr Matko Marlais, Training Program Director (Education), London School of Paediatrics

Genetics and genomics for paediatricians

Dr Lara Menzies, ST6 Clinical Genetics, Great Ormond Street Hospital

Prenatal genetics

Dr Tessa Homfray, St George's and The Brompton Hospitals

Comfort break
Approach to clinical dysmorphology

Professor Sahar Mansour, Consultant in Clinical Genetics, St George’s University Hospitals NHS Foundation Trust

Genetic inheritance cases and ethics

Tahni-Ann Wilson, Pre-Registration Genetic Counsellor, Guy's and St Thomas' NHS Foundation Trust

Being a parent of a child with a rare genetic disease: How can paediatricians make a difference?

Mrs Rebecca Pender, Rare Disease Advocate

Metabolic grid applications

Dr Preeya Rehsi, Great Ormond Street Hospital

Metabolic acidosis

Dr James Davison, Consultant Paediatric Metabolic Medicine, Great Ormond Street Hospital


Dr Roshni Vara, Consultant in Paediatric Inherited Metabolic Disease, Evelina London Children’s Hospital


Dr Emma Footitt, Consultant in Paediatric Metabolic Medicine, Great Ormond Street Hospital NHS Trust 

Comfort break

Dr Julien Baruteau, Great Ormond Street Hospital

Newborn screening

Dr Mildrid Yeo, Paediatric Metabolic Consultant, Great Ormond Street Hospital

Maple syrup urine disease (MSUD) - patient experience

Marjorie Dixon, Clinical Lead Dietitian – metabolic medicine Dietetics, Great Ormond Street Hospital for Children 

Close of meeting



Disclaimer: All views expressed in this webinar are of the speakers themselves and not of the RSM nor the speaker's organisations. 

Special rates for difficult times 

The RSM wishes to offer healthcare professionals continued learning opportunities during the coronavirus pandemic. The RSM’s weekly COVID-19 Series webinars remain free of charge, while there will be small charges to register for other online education. These fees will enable the RSM to continue its programme of activities and will apply during the course of the pandemic. 

Webinar recordings will be available for registered delegates up to 30 days after the live webinar, via Zoom. The link will be sent 24 hours after the webinar takes place. 

This webinar will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels.  

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