Dr Aimee Donald
Paediatric Research Fellow, Manchester University NHS Foundation Trust
About this event
- Date and time Tue 8 Feb 2022 from 9:00am to 5:00pm
- Location Royal Society of Medicine
- Organised by Paediatrics and Child Health
This event has been cancelled. You are welcome to book the webinar version of this event by clicking here. You can watch webinars anywhere with a good internet connection.
This event 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 10 free bursary places available on a first come, first served basis. To claim your free place, please email us at paediatrics@rsm.ac.uk.
During this session, attendees 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
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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
CLOSED
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.
Key speakers
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
Registration, tea and coffee
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
Tea and coffee 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
Tea and coffee 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
Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom
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.
