Professor Paul Gissen
Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children
About this event
- Date and time Tue 6 Jun 2023 from 9:25am to 5:00pm
- Location Online
- Organised by Paediatrics and Child Health, London School of Paediatrics
We are excited to invite you to this event, where you will learn about the clinical presentation, investigations, and management of genetic or metabolic conditions in children.
You will gain insights from experts in the field who will provide valuable frameworks applicable in both acute and clinical settings for professionals in pediatrics. The event will also shed light on current genetics research, including gene therapy, and offer perspectives from patients and parents dealing with such conditions.
By attending, you will:
- Develop an understanding of clinical presentation and investigations of genetic and metabolic conditions
- Explore the acute setting management of rare diseases presenting in general paediatrics
- Demystify genetic facial features terminology and gene therapy
- Hear about the patient and parent's perspective on coping with genetic diseases
- Learn about applying for paediatric metabolic GRID and Clinical Genetics training
So make sure to register today and join us to enhance your knowledge on effectively approaching genetic and metabolic conditions encountered in both acute and outpatient pediatric settings.
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We would like to thank our sponsor Kyowa Kirin for their support of this meeting.
Please note that the main scientific programme and content has not been influenced in any way by the sponsor.
Key speakers
Professor Sally Ann Lynch
Clinical Professor, University College Dublin School of Medicine
Dr Lara Menzies
Consultant, Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children, Honorary Associate Professor, UCL Genetics & Genomic Medicine Department
Agenda
View the programme
Welcome and introduction
Dr Ellie Bond, Consultant Paediatrician, Royal Free London NHS Foundation Trust
Introduction to dysmorphology
Dr Ruta Kalinauskiene, Clinical Genetics Senior Fellow, Guy's and St Thomas' NHS Foundation Trust and Dr Ioanna Tsigkouli, Senior Clinical Fellow, Evelina London Children's Hospital
Facilitated by: Dr Ellie Bond
Genetics of the Irish Traveller population
Professor Sally Ann Lynch, Clinical Professor, University College Dublin School of Medicine
Facilitated by: Dr Stefan Wiles
Comfort break
Metabolic investigations
Dr Stefan Wiles
Inherited cardiac diseases - when to suspect in general paediatric practice
Dr Ronel Talker, Paediatric Cardiology Registrar, Evelina London Children's Hospital
Facilitated by: Dr Ioanna Tsigkouli
An approach to the child with hypoglycaemia
Dr Preeya Reshi, Metabolic GRID Trainee, Evelina London Children's Hospital
Facilitated by: Dr Ellie Bond
Comfort break: Sponsored industry presentation by Kyowa Kirin
Learn about the life-long impact of X-Linked Hypophosphataemia, a rare genetic condition
Genetic testing and how to interpret results
Dr Lara Menzies, Consultant, Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children and Dr Ratha Sritharan, Registrar, Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children
Facilitated by: Dr Ioanna Tsigkouli
Gene therapy – introduction to general paediatricians
Professor Paul Gissen, Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children
Facilitated by: Dr Ioanna Tsigkouli
Hyperammonaemia
Dr Unai Diaz-Moreno, Senior Clinical Fellow, Paediatric INherited Metabolic Disease, Great Ormond Street Hospital for Children
Facilitated by: Dr Michelle Themalil, Department of Paediatrics, Aneurin Bevan University Health Board
Comfort break
The patient perspective
Dr Sarah Wynn, CEO, Unique – Rare Chromosome Disorder Support Group
Facilitated by: Dr Ellie Bond
Clinical genetics training and metabolic GRID applications
Dr Arwa Babai, Clinical Genetics Registrar, Health Education England and Dr Nazreen Kamarus Jaman, Paediatrics Trainee Specialist Registrar, Queen's Hospital
Facilitated by: Dr Michelle Themalil and Dr Ioanna Tsigkouli
Questions and answers
Closing remarks
Dr Ellie Bond
Close of meeting
Sponsors
Location
Online
Registration for this webinar will close 2 hours prior to the start time. Late registrations will not be accepted.
Disclaimer:
- The agenda is subject to change at any time
- If the event is recorded, we are only able to share presentations that we have received permission to share. There is no guarantee that all sessions will be available after the event, this is at the presenter’s and RSM discretion.
- All views expressed at this event are of the speakers themselves and not of the Royal Society of Medicine, nor the speaker's organisations.
- This event will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels.
