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Uniting to Meet the Challenge of Rare Diseases in 2022 and Beyond

Around the world, a renewed focus on rare diseases and orphan drugs is beginning to move the needle – but there is more work to do. 

A common misconception about rare diseases is that they are extremely rarebut in reality these conditions are not as rare as one may think. They affect people from all walks of life and in all economic circumstances. Most rare diseases are genetic and present throughout a person’s entire life. Many of these disorders are chronic, have no effective treatment, and may require complex care. 

There are  more than 7,000 rare diseases in existence, and  nearly 300 million people around the world are living with a rare disease.

The global rare ecosystem

“Rare disease is a public health issue,” says Durhane Wong-Rieger, Ph.D., president and CEO of the Canadian Organization for Rare Disorders. “More people have a rare disease than have all cancers combined, cardiovascular disease, or diabetes.”


Durhane Wong-Rieger, Ph.D.

President and CEO, Canadian Organization for Rare Disorders

Shannon Resetich, Global Franchise Head of Rare Diseases at Sanofi agrees and emphasized that “while the recent pace of discovery and advancement of new therapies and technologies is impressive, there is still a long way to go to address the unmet needs of patients.”It’s vital to keep patients top of  mind when considering the true impact of this public health issue.

“When I think about the global rare ecosystem, I first think about the long, painstaking journey to diagnosis,” says  Resetich. “Patients often experience a winding diagnostic odyssey which can sometimes take up to 10 years to receive a proper diagnosis. We know that rare diseases are not only difficult to diagnose, study, and treat, but also heart-breaking for the person receiving the life-altering diagnosis.”Sanofi has both witnessed and contributed to changes in the rare disease landscape dating back to the 1980s. Over these past 40 years, the company has developed different therapies for the treatment of many rare diseases. Even with that pioneering legacy, there is more work to do.


Shannon Resetich

Global Franchise Head of Rare Diseases, Sanofi

After jumping over the hurdle of an accurate diagnosis, challenges still remain for patients. “The way we have designed our systems is that healthcare is seen as expenditure—as opposed to an investment in society,” Wong-Rieger notes. “We do have amazing therapies, but can we continue to invest in their development if they’re not going to have a return on that investment?”

The challenge of investment is closely related to the idea of access, which is currently a ‘one-size-fits-all’ approach. “We’ve got about 600 new therapies in the U.S. and 200 in Europe,” notes Wong-Rieger, “and we continue to shove them into the old model for access. My fear is that we have reached the breaking point there.”

“Making access equitable is a huge challenge,” adds Flaminia Macchia, executive director of Rare Diseases International (RDI). “The commitment is to leave no one behind—which means equity. And equity does not mean giving the same to everybody—it means giving according to people’s needs. Equity means to do more for those who have less.”

These challenges are real, but Macchia also sees reason for optimism. “I think we are currently in a good trend,” she says. “We have several new or recent global policy documents, like the United Nations Political Declaration on Universal Health Coverage that was adopted a couple of years ago. Another element that makes me positive is the global patient movement, which is getting stronger.”

Resetich further reinforced the importance of equity of global access, noting “At Sanofi, we are especially proud of our Rare Humanitarian program, which works to develop sustainable healthcare systems and increase access to medicines. Further – our focus now and in the future is to increase the centrality of the total patient in securing information to help guide the continued pursuit of true innovative solutions.” 

Where we go from here

It turns out, patient engagement and inclusion is a trend across the board.

Wong-Rieger also highlights the rising inclusion of patients in the rare disease conversation. “We’re highly engaging the patient as a partner,” she says. “What we’re seeing in the future is empowering people to actually take a much bigger role in their own health.”

Resetich added “The total patient must be at the core of informing and guiding how we all approach our work—as we navigate this, our patients will become even more instrumental in providing invaluable perspectives to help improve our study designs, clinical approach, and the overall healthcare ecosystem toward better care.”The amplification of the patient voice is crucial both for gaining attention and resources, and because medicine is increasingly personal. “The future, in terms of therapy, is going to be genetically based, highly targeted, and highly personalized,” Wong-Rieger notes. “Our vision for rare diseases is that each and every patient will have a totally individualized care and treatment plan.”

Another hope for the future evolved out of the COVID-19 pandemic. “There has been an acceleration of the regulatory processes for the COVID vaccines—that could potentially be a useful model for other disease areas,” says Macchia. “We have also seen innovative access schemes such as joint procurement. Why not think about a joint procurement type of model for orphan medicines?”

Scrapping the silo mentality

Tackling the systemic and economic challenges to rare diseases and their treatment will require cooperation. “The global rare ecosystem involves multiple stakeholders—healthcare providers, patients, patient advocacy organizations, regulators, payors, academia, policymakers, and more,” notes Resetich. “Uniting is the best chance we have at bettering the lives of patients and their care partners. The global rare disease community can benefit greatly from all of us working together towards a common goal, and we owe it to them to do so.”

One way these stakeholders come together is through the World Orphan Drug Congress (WODC), an annual conference taking place this year July 11-13 in Boston. “The WODC is kind of a unique beast,” Wong-Rieger says. “It’s an opportunity to advance the research. It is competitive, cooperative, and collaborative. It is both the for-profit and the not-for-profit coming together. And there aren’t many other conferences of this type in which the patients can play such a major role and have such equal access.

”Resetich sees hope in that community. “It is gatherings like the WODC that ensure we all come to the table to further progress,” she says. “When it comes to thinking about those affected by rare diseases, I can’t think of anything more important than a collective effort to address challenges.”

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