Having a child with a rare or ultra-rare disease often means traveling a lonely, uncertain path. Doctors may be unfamiliar with the condition and unsure how to diagnose or treat it — presuming treatments exist, which typically they do not. And it is unlikely that parents know anyone in their social network who suffers from the same disease, compounding the sense of isolation and lack of support. While these conditions each affect a relatively small number of patients, collectively, their burden is significant — in the U.S., some 25 – 30 million people live with a rare disease.
Henri Termeer believed deeply in serving the needs of these patients and their families. The Termeer Foundation builds on his bold legacy, which includes not only advancing novel therapies for rare diseases during his nearly 30-year career at Genzyme, but also a steadfast commitment to mentorship and patient-centered innovation.
“There’s been a lot of progress since our early Genzyme days, but still, we only have therapies for about — yet there are thousands of other orphan, rare diseases that lack a real solution,” said Oved Amitay, CEO of Solve M.E. and a mentor at the Termeer Foundation. Amitay joined Genzyme in 1997 and worked closely with Termeer to create drugs for Gaucher disease.
“I cherished working with Henri,” added Amitay. “He always kept the patient community front and center — even during times of crisis, his first and foremost thought was how to address patient needs.”
A shifting landscape
Today, the landscape of rare diseases has shifted considerably, in part due to a deeper understanding of the biological underpinnings of many rare and ultra-rare diseases. In addition, advances in technology, including gene therapy and gene editing, have expanded the slate of therapeutic capabilities and helped spur breakthroughs in several rare diseases. And artificial intelligence (AI) is transforming how big data sets are analyzed, making it possible to aggregate data from a larger swath of patients and gain a much broader understanding of rare diseases, not only in the most severely affected patients — who are often the ones most readily diagnosed — but also those with milder forms that may elude detection.
Momentum is also building within patient advocacy groups. “Basic research and proof-of-concept studies, natural history studies, and patient registries are all taken on by patient advocacy groups, who want to be ready to partner with industry,” said Yael Weiss, MD, PhD, a 2022 Termeer Fellow and CEO of Mahzi Therapeutics. Her company aims to unite patient and family groups, academic researchers, other industry members, and its internal team of experts to develop therapies for patients with under-diagnosed and under-served rare genetic neurodevelopmental disorders
At the same time, funding within the biopharmaceutical industry for rare disease remains a major challenge. “When you talk to investors today about drugs that will treat small patient communities, especially if it’s a genetic therapy, there’s less interest to invest in these projects. So, it’s very challenging to secure funding for this kind of research,” said Weiss.
Still, there is cause for optimism. “I suspect that over the next five years we’re really going to see an explosion of solutions,” said Amitay. “And some of them will come from just applying known drugs to diseases that we didn’t expect they would work in because we didn’t understand the biology well enough.”
In addition, “Data from ongoing trials testing genetic therapies will hopefully yield positive results and draw investors’ attention,” said Weiss.
A fundamental impact
Recognizing the myriad issues that confront the rare and ultra-rare disease communities, the Termeer Foundation is working to support, nurture, and cultivate biotech leaders that are committed to solving these and other major healthcare challenges.
Its signature program — known as the Termeer Fellows Program — is a distinctive effort dedicated to supporting the person at the helm of a growing company, independently from the company itself. Through its multi-faceted curriculum and its diverse network of innovators and entrepreneurs, the Fellows Program provides mentorship, coaching, professional development, and networking opportunities for first-time CEOs of early-stage or non-profit biotech and life sciences organizations.
“The Fellows Program opened a network of experts that I didn’t have access to before,” said Weiss. “And having the ability to reach out to the senior Genzyme alumni who have years of expertise in regulatory, drug development, and commercial areas in rare diseases was incredibly helpful.”
Beyond access to expertise in rare diseases, Weiss said that the leadership training and resources were also invaluable. “My cohort fellows as well as the coaches and the mentors from the Termeer Network have all been and continue to be remarkable sources of support as I lead and manage a company.”
By advancing leaders who are passionate, values-driven and people-focused, the Termeer Foundation is making a real impact — for patients with rare diseases as well as many other illnesses.
“Henri always said, ‘We listen to patients, we listen to families,’ because they are really the best source of information about their disease,” said Belinda Termeer, President, Co-Founder, and Member of the Board of Directors of The Termeer Foundation. “As we move forward together, both as a Foundation and as a community that cares about rare diseases, we should always keep that as our guiding principle.”