DARE Educational Webinar Announced

About this event

Global DARE Foundation is hosting a webinar on 18 October 2021 presented by Professor Dr. Jean-Marc Nuoffer, MD titled Phytanic Acid Analysis and Interpretation – Laboratory and Clinical considerations.

Have you ever wondered how phytanic acid is measured? Have you received phytanic acid level results and wondered how to interpret them? Then join us for this webinar where Professor Nuoffer from the University Hospital in Bern, Switzerland will discuss the methodology for analysing phytanic acid and explain the use and limitations of results as a diagnostic and disease progression marker in Refsum Disease.

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 is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical.


Professor Dr. Jean-Marc Nuoffer, MD

Professor Nuoffer is the Head of the interdisciplinary metabolic team at the University Hospital Bern of Switzerland. His team in Bern is made up of paediatric and adult medical and biomedical specialists for errors of inborn metabolism, specialised dieticians, social workers, nurses and laboratory technicians as well as research staff dedicated to inborn errors of metabolism. Professor Nuoffer is also a lecturer on the topic of inborn errors of metabolism at the medical faculty of the University of Bern. Furthermore, he is involved in the creation of national policies for orphan diseases in Switzerland and sits on the board of the Swiss Group of Inborn Errors of Metabolism.

Click here to register.

Newsletter Signup

To keep up to date with our news and activities,
please leave your details below

GDPR Compliance Please indicate your consent for Retina International to contact you via the email address listed for the purposes of general alerts and newsletters.