Dr Aimee Donald
Paediatric Research Fellow, Manchester University NHS Foundation Trust
About this event
- Date and time Tue 8 Feb 2022 from 9:15am to 5:00pm
- Location Online
- Organised by Paediatrics and Child Health, Medical Genetics
This webinar 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.
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
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
Honorary Clinical Professor of Paediatric Haematology and Cellular Therapy, 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, University College London Institute of Child Health
Agenda
View the programme
Welcome and introduction
Dr Dan Cromb, Sam Tucker Fellow, Paediatrics and Child Health Section, Royal Society of Medicine and Clinical Research Fellow, Centre for the Developing Brain, King’s College London and Dr Nadir Chowdhury, Paediatric Trainee, Paediatric Intensive Care Unit, Evelina London Children’s Hospital
Session one
Living with a rare disease - the patient and parent perspective
Ms Kirsty Hoyle, Chief Executive Officer, Metabolic Support UK and Ms Laura Linford
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 and Dr Nadir Chowdhury
Clinical genetics and genomics: What does the modern-day clinical geneticist do on a day to day basis?
Dr Wendy Jones, Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children and Honorary Associate Professor, University College London Institute of Child Health
Tim David prize presentations
Tim David prize presentation one: Case Study: Testing the water, hot air and cold facts
Dr Alix Eastham, Junior Clinical Fellow in General Paediatrics, Leeds Children’s Hospital
Tim David prize presentation two: Attempts to reorder disordered homeostasis
Dr Abigail Green, Paediatric Speciality Trainee Year Two, Worthing Hospital, University Hospital Sussex NHS Foundation Trust
Tim David prize presentation three: To wheeze or not to wheeze, that is the question!
Dr Sara Warraich, Respiratory Registrar Speciality Trainee Year Seven, Royal Brompton Hospital
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, Honorary Clinical Professor of Paediatric Haematology and Cellular Therapy, 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 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.
