Hit and Miss: Genetic diagnosis, misdiagnosis and learning
Kings College London Guys Campus New Hunt's House, London, United KingdomA potpourri of genetic diagnosis, misdiagnosis and learning experiences
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Lectures
Rare disease spotlight: Aspergillosis
Barts & The London School of Medicine - Garrod Building London, United KingdomShining the light on Aspergillosis
The 10th European Conference on Rare Diseases & Orphan Products (ECRD)
ONLINEPeople living with a rare disease have the right to reach their highest potential of well-being; join us online for ECRD 2020 to take part in discussions to inform and build the future ecosystem for rare disease policies and services.
to be reviewed
Refsum Disease from an Ophthalmology Perspective
ONLINEDr. Bart Leroy, MD, PhD will present the Ophthalmology side of Refsum Disease and the benefits of early diagnosis by clinicians Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It […]
Stuart Green Memorial Lecture 2021
ONLINEDr Stuart Green was a consultant at Birmingham Children’s Hospital who set up the Paediatric Neurology department. He was known internationallly for his expertise and was loved and respected by patients and colleagues alike for his kindness, wit and wisdom. This public lecture set up in his memory takes place at Birmingham Children’s Hospital, every […]
Alumni Angles: In conversation with Professor Sir Andrew Pollard
Queen Mary University of London Perrin Lecture Theatre, Blizard Building, Faculty of Medicine & Dentistry, 4 Newark Street, London, United KingdomJoin QMUL for a special in conversation event with vaccine expert and alumnus Professor Sir Andrew Pollard (Medicine MBBS, 1989), who leads the team behind the Oxford-AstraZeneca vaccine for COVID-19. You will also hear from the Principal, Professor Colin Bailey CBE, Professor Sir Mark Caulfield, Vice-Principal (Health), and our chair, Dr Vanessa Apea, Consultant Physician […]
11th European Conference on Rare Disease & Orphan Products (ECRD)
ONLINEThe European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and an international level to take place. ECRD 2022 will take […]
Showcase of Genomics across North Thames
UCL Gower Street, London, United KingdomJoin the North Thames Genomic Medicine Service showcase to find out how genomic medicine is transforming healthcare in their region. Genomic medicine is coming into every-day-practice for multi-disciplinary healthcare professionals across the NHS, improving how we diagnose and treat patients of all ages with cancer and rare or inherited diseases. In North London, Essex and […]
Reframing Rare Disease
Clare College Medical and Veterinary SocietyIt may be impossible for all doctors to have knowledge of more than 7,000 recognised rare diseases. However, it is feasible for all future and current medical professionals to learn […]
Free
First, do no harm: Expert reflections on a rare bone disease
hunterian museumMedics4RareDiseases and FOP Friends, in collaboration with the Hunterian Museum at the Royal College of Surgeons of England, are hosting an evening reception for healthcare professionals, examining the contributions of patients and families to medical advances in Fibrodysplasia Ossificans Progressiva (FOP). Come and find out how patient advocacy can change the course of rare genetic […]