Adult Refsum Disease - Clinical Guidelines Overview
During Refsum Awareness Week 2024, : Global DARE Foundation hosted a webinar where Dr Radha Ramachandran, MD, PhD presented an overview of the first-ever clinical guidelines for Adult Refsum Disease. These guidelines mark a significant advancement in the management of the disease, providing clinicians and patients with much-needed guidance to improve care and quality of life. As the lead at the Refsum Center of Excellence in London, Dr. Ramachandran brings a wealth of expertise to this discussion.
Speaker Bio
Radha Ramachandran, MD, PhD is a Consultant in Metabolic Medicine and Adult Inherited Metabolic Diseases at Guy’s and St. Thomas’ NHS Foundation Trust in London, where she also serves as the Clinical Lead for the service. She completed her specialist training at Imperial College Healthcare NHS Trust and the National Hospital for Neurology and Neurosurgery, with a focus on Adult Inherited Metabolic Diseases. Awarded the prestigious NIHR Doctoral Fellowship, Dr. Ramachandran's research centers on biomarkers for neuroendocrine disease. She has been instrumental in the care of Adult Refsum Disease patients since 2014 and currently leads the Refsum Center of Excellence, which houses the UK's largest cohort of Adult Refsum Disease patients.
Refsum Disease & Global DARE Foundation
Did you know that one in 300 people who have Retinitis Pigmentosa also have Refsum disease? Many are diagnosed with Refsum Disease 15-20 years after being diagnosed with Retinitis Pigmentosa. Early diagnosis is so important because dietary therapy can slow sight and hearing loss associated with Refsum and lessen other symptoms.
Join the Global DARE Foundation in making a difference for the Refsum community. Visit our website at https://www.defeatadultrefsumeverywhe... . Please share this video to raise awareness and enable early diagnosis!
If you have any questions please contact Global DARE Foundation at [email protected]
#curerefsum #retinitispigmentosa #lowvision