About this event

  • Date and time Tue 8 Feb 2022 from 9:15am to 5:00pm
  • Location Online
  • Organised by Paediatrics and Child Health

This live stream seeks to provide an overview of the presentation, clinical features and management of paediatric rare diseases, with a particular focus on genetic and metabolic disorders.

Hear from world-leading experts in the investigation, diagnosis and management of genetic, metabolic and rare diseases. This session will provide an overview and update of these topics, relevant to anyone involved in caring for these patients. We will also hear from patients and parents affected by rare diseases, to find out what really matters to them.

This session will also include viewpoints and advice from patients and parents who have been affected by these, along with expert clinicians in the areas of genetics, metabolic diseases, endocrinology and imaging. 

There are 20 free bursary places available on a first come, first served basis. To claim your free place, please email us at paediatrics@rsm.ac.uk.

Want to attend in-person at the RSM? Click here to book your place.

During this session, participants will be able to:

  • Develop a detailed understanding of the role of a modern-day geneticist
  • Explore the management of rare diseases, including the approach to clinical trials
  • Learn how to examine and describe clinical features in patients with metabolic, genetic and rare diseases, and what is important to consider when making diagnoses and referrals for these patients
  • Learn about the radiological appearance of genetic, metabolic and rare diseases that present in early childhood

Join in the conversation online #RSMPaeds
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Paediatrics & Child Health Section: Tim David Prize

Prize

  • First prize: £250 and a year’s free RSM membership
  • Second prize: £200
  • Third prize: £150

Submission deadline

Tuesday 14 December 2021

Meeting date

Tuesday 8 February 2022

Open to

Medical trainees

Application guidelines

Submit a 750-word case report on a general paediatric case. A maximum of four general paediatric case reports will be shortlisted to present at a Paediatrics & Child Health meeting.

Apply here

Tickets

Standard pricing available until 08 February 2022.

Member

RSM Fellow RSM Associate RSM Retired Fellow RSM Trainee RSM Student
£36.00 £27.00 £27.00 £27.00 £18.00

Non - Member

Consultant / GP AHP / Nurse / Midwife Non Healthcare Professional Trainee Student
£66.00 £50.00 £50.00 £50.00 £33.00

Key speakers

Dr Aimee Donald

Paediatric Research Fellow, Manchester University NHS Foundation Trust

Professor Mary Rutherford

Professor Mary Rutherford, Professor of Perinatal Imaging, King’s College London

Professor Robert Wynn

Consultant Paediatric Haematologist and Director of Paediatric Bone Marrow Transplant Programme, Royal Manchester Children's Hospital

Professor Wendy Jones

Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children and Honorary Associate Professor, UCL Institute of Child Health

Agenda

View the programme

Welcome and introduction

Dr Dan Cromb, Sam Tucker Fellow, Paediatrics & Child Health Section, Royal Society of Medicine and Clinical Research Fellow, Centre for the Developing Brain, King’s College London

Session one

Living with a rare disease - The patient and parent perspective
Clinical features of genetic disorders and how to examine and describe genetics patients - Part one

Dr Rachel Jones, Consultant clinical geneticist, Evelina London Children’s Hospital and  Dr Mohamed Wafik, Clinical Genetic Specialist Registrar, Evelina London Children’s Hospital 

Panel discussion
Comfort break

Session two

Clinical features of genetic disorders and how to examine and describe genetics patients - Part two

Dr Rachel Jones and Dr Mohamed Wafik

Imaging rare diseases 

Professor Mary Rutherford, Professor of Perinatal Imaging, King’s College London

Panel discussion
Lunch

Session three

Introduction

Dr Dan Cromb

Clinical genetics and genomics: What does the modern-day clinical geneticist do on a day to day basis?

Professor Wendy Jones, Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children and Honorary Associate Professor, UCL Institute of Child Health

Tim David prize presentations

Case summary one
Case summary two
Case summary three
Case summary four
Comfort break
Therapeutic options in rare diseases: A rapidly changing landscape

Dr Aimee Donald, Paediatric Research Fellow, Manchester University NHS Foundation Trust

Haematopoietic stem cell transplant and stem cell gene therapy for metabolic diseases

Professor Robert Wynn, Consultant Paediatric Haematologist and Director of Paediatric Bone Marrow Transplant Programme, Royal Manchester Children's Hospital

Panel discussion
Concluding remarks
Announcement of the Tim David prize winner
Close of meeting

Location

Online

Disclaimer: All views expressed in this event 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. 

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