AdvocacyLeading advocates and experts share their experiences
- Rare Disease Day: Spotlight on Rare Disorders and the Need for Clinical Trials
February 28 is the 12th Annual Rare Disease Day, the theme of which this year is “bridging health and social care”. This day brings together the rare disease community and highlights the need for better coordination of medical, social, and support services to lessen the burden that rare diseases have on the daily lives of patients, their families, and caregivers.
- Cholestatic Liver Diseases: Emerging Treatment Options
Ron Cooper, President and CEO of Albireo, provides and overview of Cholestatic liver diseases. Cholestasis is a chronic condition resulting from an impairment of the biliary system, that provokes a decrease or interruption of bile secretion from the liver to the intestine, leading to the degeneration of liver tissues, chronic inflammation and the formation of scar tissue (fibrosis).
- Living with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Ch …
- Beat AML Trial: Rapid Genetic Screening in Acute Myeloid Leukemia
Amy Burd, PhD, Vice President of Research Strategy at the Leukemia and Lymphoma Society (LLS), discusses her group’s multiarm, multisite collaborative trial which aims to test targeted therapy approaches for improving the generally poor prognosis among patients with AML.
- Dup15q Syndrome Overview
Vanessa Vogel-Farley, Executive Director, Dup15q Alliance discusses Dup15q syndrome, the common name for chromosome 15q11.2-q13.1 duplication syndrome.
- Rare in Common Podcast
The 2017 Emmy-nominated Rare in Common documentary gave people from the rare disease community an opportunity to tell their stories. Today, the storytelling has expanded to the world of audio with the Rare in Common podcast.
- Current State of Duchenne Muscular Dystrophy and Future Considerations
Jennifer McNary, Rare Disease Advocate, explains why there is so much interest in Duchenne muscular dystrophy and some of the future considerations for this rare diease.
- Working With Dravet Syndrome Advocacy Groups
Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, discusses how his company works with Dravet syndrome advocacy groups, including the Dravet Syndrome Foundation (DSF).
- Hereditary Sensory and Autonomic Neuropathy Type 1E (HASN1E) Advocacy Group
Rachelle Dixon, President of the HSAN1E Society discusses the advocacy group she co-founded for hereditary sensory and autonomic neuropathy type 1E (HSAN1E), a progressive disorder of the central and peripheral nervous systems.
- Jenn McNarry Discusses the Sarepta AdCom and the Role of the Patient Advocate
Jennifer McNary, rare disease advocate, looks back at the Sarepta AdComm for Exondys 51 in 2016. She also discusses the role of the patient advocate.