Wyburn-Mason syndrome. Ever heard of it? Dan Jeffries has, and his insightful talk explores what it's like living with one of the world's rarest medical conditions – to then discover you have another one. Barts & The London Students for Rare Diseases are excited to invite you to their first online event of the year! […]
Dr. 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 […]
The Unusual Suspects: Rare disease in everyday medicine is returning to The Royal Society of Medicine on 24th February! This year it will all be online, in the evening and free so there is nothing stopping you from joining us. We will be focusing on DIAGNOSIS. Why is a diagnosis so important and why is […]
Dr Will Evans will explain how rare diseases are not only relevant to general practice but how GPs are best placed to holistically support people with rare diseases and their families. Barts & The London Rare Disease Society are very excited to be joined by Dr Will Evans, a GP in Leeds, an academic in […]
Are you a nurse/allied health professional working or interested in rare diseases? RDNN are building a community to support each other, share stories and learn from their peers to improve the care they offer to rare disease patients and their families. Join them for their first webinar, featuring Liz Morris, Lead Specialist Nurse in the […]
Nicola Miller will be talking about her experiences of caring for her son, who has a rare skin condition, Xeroderma Pigmentosum, and how clinicians can improve care for children with rare conditions and their families. Barts & The London Rare Disease Society are excited to welcome Nicola Miller, founder of the Teddington Trust, a rare […]
Paediatricians and Neonatologists from East of England and East Midlands please join to learn more about the Genomic Medicine Service and the testing services the East Genomics Laboratory Hub provides. During this first session you will: Gain an overview of the Genomic Medicine Service Understand how to order a test from the test directory Meet […]
Jointly organised with Action for Pulmonary Fibrosis, this meeting will give you an understanding of what it is like to live with Idiopathic Pulmonary Fibrosis (IPF) from people living with the disease. Pulmonary fibrosis (PF) is thought to affect around 70,000 people in the UK. One of the most aggressive and common forms of PF is Idiopathic Pulmonary Fibrosis […]
Paediatricians and Neonatologists from East of England and East Midlands are invited to join this event to discuss the taking and drawing of family history with a number of ‘patients’/cases presented by the Clinical Genetics Team. During this session you will: Hear examples of how to take family history View a demonstration of drawing a pedigree […]
Genetics is complex, and talk of genetics, and even science, can turn many people off from engaging with clinicians or self-management of their conditions. Findacure is teaming up with charity Breaking Down Barriers to deliver an informative webinar on understanding genetics in the rare disease field. This webinar will: Highlight the role of genetics […]