About this event

  • Date and time Thu 23 May 2019 from 8:30am to 8:30pm
  • Location Royal Society of Medicine
  • Organised by Paediatrics and Child Health

This study day will provide delegates 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.

Topics 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

"Tricky Topics" with John James, Sickle Cell Society CEO, OBE

 When was the last time you were in the same room as a healthcare CEO? What are the burning questions that you have always wanted to ask a top-level decision maker?

 John James, OBE, is the Chief Executive of the UK Sickle Cell Society, and has enjoyed a long and successful career working in the health sector. He has 33 years of experience within the NHS, including 4 CEO roles, becoming the first Afro-Caribbean Chief Executive and winning a national NHS leadership award.

 Join us to learn what it takes to become an NHS Chief Executive, and understand the myriad of daily responsibilities. 

 Bring your tricky questions, be they about the reality for clinicians in leadership and management, drive for diversity & inclusion, and strategies required to navigate the complex & dynamic NHS!

 All doctors welcome! 

Wine, nibbles and networking from 6pm (session 6.30-8.30pm) at Royal Society of Medicine, 1 Wimpole St, London W1G 0AE 

Cost: Only £15.


View the programme

Introduction and competencies

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

An approach to dysmorphology for paediatricians

Dr Richard Scott, Consultant Clinical Geneticist at Great Ormond Street Hospital, Honorary Senior Lecturer at the Clinical and Molecular Genetics Unit, Institute of Child Health, Genomics England Clinical Lead for Rare Disease

Genetic testing, genomics and what it means for your patient

Dr Emma Clement, Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital

Tea and coffee break
Prenatal genetics

Dr Tessa Homfray, Consultant Clinical Geneticist, St George’s University Hospitals NHS Foundation Trust

Genetic counselling case studies: Understanding inheritance and ethical Issues

Ms Monika Kosicka-Slawinska, Principal Genetic Counsellor, North West Thames Regional Genetics Service

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

Ms Karen Harrison, Support Services Manager, Alex The Leukodystrophy Charity

Clinical genetics: Training routes and questions and answers

Dr Lara Menzies

Metabolic medicine: Training routes and questions and answers

Dr Samir Munir and Dr Mildrid Yeo, Metabolic SpRs, Great Ormond Street Hospital and Evelina London Children’s Hospital

Introduction and metabolic acidosis

Dr James Davidson, Consultant in Paediatric Inherited Metabolic Medicine,Great Ormond Street Hospital


Dr Michael Champion, Consultant in Paediatric Inherited Metabolic Medicine, Evelina Children’s Hospital


Dr Anupam Chakrapani, Consultant in Metabolic Medicine, Great Ormond Street Hospital

Tea and coffee break
Developmental delay and neurological manifestations in IEM

Dr Maureen Cleary, Consultant Metabolic Paediatrician, Great Ormond Street Hospital

Interactive workshops

Each workshop is 30 minutes

Interactive workshops

Dr Julien Baruteau, Consultant in Paediatric Inherited Metabolic Medicine, Great Ormond Street Hospital


Dr Laura Guilder, Metabolic Clinical Fellow, Great Ormond Street Hospital

Safe prescribing in metabolic medicine

Dr Karin Tuschl, Metabolic Registrar, Evelina London Children's Hospital

Close of meeting

LME skills evening

Tricky topics

John James OBE, Chief Executive, Sickle Cell Society


Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom

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