, Ph.D., senior director of the Rare and Orphan Disease Center at The Jackson Laboratory, has been awarded a Rare Impact Award from the National Organization for Rare Disorders, a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The Rare Impact Award honorees are individuals and organizations making a substantial impact for people living with rare diseases. Lutz, one of 14 honorees, is being recognized for her years of dedication to helping individuals in rare disease communities on their personal journeys, as well as her work conducting lifesaving research.
The National Institutes of Health defines a rare disease as a condition that affects fewer than 200,000 people in the United States. There are more than 7,000 known rare diseases and about 25 to 30 million Americans are impacted – making rare diseases not so rare after all. But due to small patient populations for each condition, most rare diseases have no treatments, and curative approaches are seldom ever seen.
Rare disease research has improved throughout the years and Lutz has seen – and contributed to – this progress firsthand. “When I first started working in this field, the process of developing a mouse model and testing for drug efficacy to move to a clinical trial took 10 to 15 years,” she says. “Today, this process can sometimes take less than two years, and the time saved is invaluable in the rare disease research odyssey.”
Lutz’s team has worked with over 30 rare disease organizations to help families impacted by creating a systematic approach for drug discovery. Each collaboration provides new insights that help not just the organization or family itself, but also may help another rare disease family on their journey and also by shedding light on conditions outside the rare disease world. Lutz’s work proves that it is possible to make a brighter future for these families, who often have had little hope on their research pathway.
“The scientists at JAX are on a mission to improve human health, not only for people suffering from common conditions like diabetes and Alzheimer’s, but also for rare disorders that affect very small groups of people,” says , Ph.D., M.B.A. executive vice president of The Jackson Laboratory and president, JAX® Mice, Clinical and Research Services. “We are extremely proud of Cat’s research and the team that she has built to make strides for this often-overlooked community.”
In 2016, the rare disease community celebrated a major milestone with the approval of Spinraza, a treatment for Spinal Muscular Atrophy. The pathway for this drug approval began in 2005 when Lutz began working with collaborators, creating the repository for SMA mouse models at JAX, later distributing the models to researchers around the globe, laying the foundation for the successful clinical trials. Today, this achievement has provided tremendous hope to so many patient populations.
“This community can’t stop the fight against rare diseases. With over 7,000 rare diseases, we have more work ahead of us,” Lutz says. “But I know that together, empowered by equal parts scientific technology and determination, we will get there."