Скачать или смотреть Module 8 Understanding Adult Refsum (ARD) and the Impact of Phytanic Acid on the Body - The Basics

In the eighth module of the Global DARE Foundation’s Patient Collaborator Training Series, Dr. Mousumi Bose introduces the biological foundations of Adult Refsum Disease (ARD) and explains how the accumulation of phytanic acid affects the body. The module begins with an overview of human cells and the role of peroxisomes, specialized cellular organelles responsible for numerous biochemical processes. It then explores how genetic variations impair the body’s ability to metabolize phytanic acid, leading to its buildup and the development of ARD symptoms such as vision loss, neuropathy, hearing impairment, and balance issues. Through explanations of phytanic acid’s dietary sources and the challenges of managing ARD through dietary restriction alone, the module highlights the complexity of living with and treating this rare disorder. It also discusses factors such as exercise or illness that may increase phytanic acid release in the body. By outlining current diagnostic approaches, limitations in early detection, and key research priorities, this module emphasizes the importance of continued collaboration among researchers, clinicians, and patient partners to advance understanding and improve outcomes for individuals with ARD.

Summary, script, and slides developed by Mousumi Bose and Natalie Zolnierczyk

Speaker Bio:
Dr. Mousumi Bose is an Associate Professor in the Department of Nutrition and Food Studies at Montclair State University in Montclair, NJ, and the mother of Ilan Betzer (2010-2011), who was born with a severe form of Zellweger spectrum disorder (ZSD), a peroxisome biogenesis disorder. Through her experience with her son, Dr. Bose refocused her career goals to study rare disease. Currently, Dr. Bose serves as the Co-Chair for the Medical and Scientific Advisory Board of the Global DARE Foundation. Her long-term research goals are to combine her training in nutritional sciences and public health with her knowledge and experience with peroxisomal disorders to help improve the quality of life for families affected by rare metabolic disorders like Adult Refsum Disease. She is also passionate about training the next generation of nutrition professionals in rare metabolic diseases, weaving in lessons on Adult Refsum Disease as well as other rare disorders in her advanced nutrition courses. 


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. Please consider making a donation at https://www.defeatadultrefsumeverywhe.... Your support helps fund essential research, increase awareness, and accelerate progress toward better treatments—and one day, a cure—for Refsum Disease. Every gift, no matter the size, brings hope to families living with this ultra-rare condition.

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