Marfan Information Day 2024
Recordings Available!
Material for the mind, expert information underpins good decision-making and facilitates knowledge. Our recent Information Day was filled with specialist speakers covering the many manifestations of Marfan and Loeys-Dietz syndromes, from chronic pain to aortic disease, while also featuring talks on new research into improved treatments and self-advocacy.
101 Genomes Foundation
Romain Alderweireldt presents 101 Genomes, a project researching protective modifier genes that counter the cardiovascular implications of Marfan syndrome. This project was inspired by Romain's son and the maverick spirit of PEARS pioneer, Tal Golesworthy.
The Eye in Marfan Syndrome
A Consultant Ophthalmologist at Mid and South Essex NHS Trust, Mr Aman Chandra has a specialist interest in Retinal diseases and Vitreoretinal Surgery. He is further interested in connective tissue conditions affecting the eye, particularly Marfan Syndrome. On Saturday he gave a fantastically comprehensive talk on the eye and Marfan.
A Patient's Guide to the Galaxy of Pain
A consultant in Rheumatology and Chronic Pain at the Royal National Orthopaedic Hospital, Dr Helen Cohen takes you on a journey through the different types of pain, their various causes and management. Dr Cohen further advises on how to describe the particular pain you feel, and the best way in which to approach your doctor when seeking relief.
Loeys-Dietz Syndrome
Consultant Paediatric Cardiologist at the Medical University of Vienna, Dr Christiane Pees spoke on Saturday on the distinction between Marfan and Loeys-Dietz syndromes and how the latter condition was identified.
Paediatric Aortopathies & Marfan Syndrome
Dr Nitha Naqvi is a Consultant in Paediatric Cardiology at the Royal Brompton Hospital. On Saturday Dr Naqvi talked of the aortic implications of Marfan syndrome for affected children and how to manage these. She further discussed new thinking on the approach to medication.
Reproduction Options and Marfan Syndrome
Dr Yaso Emmanuel is a Consultant Cardiologist at Guy's and St Thomas' NHS Foundation Trust. Dr Emmanuel's niche is pregnancy and on Saturday she gave a comprehensive overview of reproductive options with Marfan syndrome
Research in the Sonalee Laboratory
Dr José Aragon-Martin gives an insight into his research in the Sonalee Laboratory. Dividing its time between two prestigious establishments, the William Harvey Research Institute and the Institute of Ophthalmology, the laboratory is host to exciting new discoveries.
Summer Student Research: Navaneethan Adityaraj
Medical Student Navaneethan Adityaraj spent months researching the eye in Marfan syndrome. Overseen by Consultant Ophthalmic Surgeon and Marfan Trust Advisor Mr Aman Chandra, Navaneethan has produced a fantastically comprehensive guide.
Summer Student Mehar Birjal
Fifth year medical student Mehar Birjal has a background in research heavily focused on the aortic root. Since he was especially interested in advancing the field of imaging and clinical diagnosis in the context of MFS and LDS, he was delighted to be accepted into the RBH Cardiac Radiology Department, supervised by Dr Saeed Mirsadraee. There he spent weeks measuring and analysing their collection of serial CT scans of 500 Marfan patients. He is here to tell us about his preliminary analysis of this work in progress.
Prize-Giving Ceremony
Prizes were awarded to our three star summer students, Silvia la Penna, Navaneethan Adityarah and Mehar Birjal.
Self-Advocacy with Marfan Syndrome
In this, the concluding talk to Information Day, Gareth Owens gives a rousing talk on how to self advocate for yourself - an essential tool for anyone with Marfan syndrome - Illustrated through three medical Marfan-induced 'emergencies' in his life.
Closing Remarks
