Children’s Hospital of Philadelphia announced on April 21 that Katherine High, Jean Bennett, and Albert Maguire received the Breakthrough Prize in Life Sciences at a ceremony in Los Angeles on April 18. The award recognized their role in developing the first United States Food and Drug Administration-approved gene therapy for an inherited form of blindness known as Leber congenital amaurosis.
The recognition highlights significant advances in medical science that can improve quality of life for children and families affected by genetic diseases. The ceremony, often called the “Oscars of Science,” brought attention to treatments that have restored sight to patients who previously had limited options.
Among those attending was Hannah Reif, a Children’s Hospital patient who was one of the first recipients of the FDA-approved gene therapy. She shared her experience during the event: “Before my gene therapy, I didn’t realize how much of the world I was missing,” Hannah said. “Suddenly I could see details clearly and I even saw a star for the very first time. As my vision improved, my confidence grew and I found the courage to try new things, like horseback riding, which I now love.”
The event also featured Rebecca Ahrens-Nicklas and Kiran Musunuru from Children’s Hospital and Penn Medicine. They were joined by KJ Muldoon, a one-year-old patient who last year became the world’s first recipient of a personalized CRISPR-based gene editing therapy developed by Ahrens-Nicklas and Musunuru.
Madeline Bell, CEO of Children’s Hospital of Philadelphia, said: “This extraordinary recognition is a testament to the power of collaboration and to the many ways scientific innovation benefits children and families. From creating the first FDA-approved gene therapy for a genetic disease to developing a first-of-its-kind personalized gene editing treatment, CHOP and Penn are making breakthroughs that are transforming medicine – and giving children and families everywhere hope for a better future.”
The Breakthrough Prizes were established in 2012 by Sergey Brin, Priscilla Chan and Mark Zuckerberg, Yuri Milner with Julia Milner, Anne Wojcicki. The awards span five categories including Life Sciences as well as Fundamental Physics and Mathematics. Media outlets worldwide covered this year’s event; it will be available online with its full broadcast premiering on YouTube on April 26.
