Across the patient journey, people with rare and ultra-rare diseases and their families face challenges gaining answers, diagnosis, treatment and care. That’s why, this Rare Disease Day, we brought together patients, manufacturers, and our specialists at Avalere Health to explore new ways of bringing ground-breaking therapeutics to every patient. 

Our Rare Disease Day webinar on February 28 explored headwinds and tailwinds for shortening the diagnostic odyssey, what it means to live with a rare disease or be a caregiver to someone affected by it, and how manufacturers can navigate evolving market dynamics to ensure successful commercialization of treatments while securing patient access. 

In this webinar, patients, caregivers, manufacturers and our rare disease experts at Avalere Health came together to explore a variety of topics, including:  

• Barriers and opportunities for shortening the diagnostic odyssey, including rapid genome sequencing implementation, global programs ensuring equitable access to timely diagnosis, state-level initiatives in the US, and cross-border application of learnings   

• Impact of rare diseases on patients and their caregivers, including the physical, social, emotional, financial burdens, and what industry can learn to ensure the patient voice is incorporated when bringing treatments to market  

• Commercialization strategies in rare disease, including understanding of nuances associated with small patient populations, novel approaches for reaching patients, the benefits of accurate patient journey mapping, and other considerations for large and small companies entering the rare and ultra-rare disease market 

This webinar is designed for professionals across the healthcare industry—including manufacturers, providers, and patient associations—working to accelerate diagnosis, improve patient outcomes, and navigate commercialization in rare disease.  

Avalere Health moderators  

• Mariia Salova, MD, MS, Senior Research Scientist, supports clients in market access, product commercialization, and reimbursement strategy, with a focus on rare and ultra-rare diseases.  

• Shelby Harrington, RN, Managing Director, supports clients in navigating the transition to value-based care with a focus on clinical quality, strategy, and digital transformation, including in rare and ultra-rare category. 

Guest panelists 

• Ashlee Olsen, patient with a rare disease  

• Fleur Chandler, patient advocate, caregiver 

• Laura Hattersley, patient advocate, caregiver 

• Masako Nakamura, COO, AlphaRose Therapeutics 

Avalere Health panelists 

• Laura Housman, MPH, MBA, DrPH candidate, Practice Director, supports clients in strategy, evidence generation, reimbursement and pricing, patient communications, population health and personalized medicine to drive access to innovation across healthcare. 

• Samara Ferguson, MSc, Executive Director and Primary Research COE Lead, leads the development and implementation of market access strategies across European and global markets and supports clients in understanding the market access challenges and optimization of market access for their assets.  

• Shirley Bachman, BS, Managing Director, provides consulting services to pharmaceutical and biotechnology clients on rare disease launches, patient services, and go-to-market strategies. 

• Jessica Cortez, BS, Principal, partners with life sciences organizations to drive strategic initiatives focused on healthcare transformation, including coverage, coding, regulatory, and economics foci.  

• Nicole Meyerson, MPH, Associate Principal, supports clients with research and analysis focused on Medicaid, state health policy trends, and the impact of federal health reform.