California medical geneticist on treating ultra-rare disorders
By LA Stories Staff Los Angeles
PUBLISHED 5:00 AM PT Mar. 20, 2023
Growing up in Montebello and Long Beach, Dr. Emil Kakkis’ family engrained a sense of service in him. His grandmother, who escaped the death camps during World War II, always taught him to put good out into the world.
Kakkis’ father was a neurologist who discovered a treatment for people battling Parkinson’s disease. With them as his inspiration, Kakkis became a geneticist and put his focus on ultra-rare diseases, which is any disease that affects fewer than 6,000 people.
In the latest episode of “LA Stories,” Kakkis explains to host Giselle Fernandez how he went on to work with Dr. Elizabeth Neufeld at Harbor-UCLA Medical Center, where they developed an enzyme-replacement therapy in order to treat a rare disorder called mucopolysaccharidosis.
Despite creating a potentially life-saving therapy for patients suffering from MPS1, they could not get the proper funding from companies for the project.
“They said it’s too complicated, it would cost too much money, and there’s not enough patients to make it worthwhile,” Kakkis said.
Undeterred, Kakkis continued on his mission and was eventually introduced to a young MPS1 patient named Ryan Dant, who changed everything for him.
Ryan’s parents created the Ryan Foundation, and through their fundraising efforts, they were able to raise enough money to fund Kakkis’ trial. He was able to successfully treat Ryan, and after many years and long battles, his treatment finally gained FDA approval.
Despite being told he wouldn’t live past the age of 10, with Kakkis’ treatment, Ryan is now in his 30s and married and living a normal adult life.
“I have a lot of MPS families from around the world who’ve been affected,” Kakkis said. “It’s been 20 years now, and all these families have that chance to see a future. It’s amazing.”
Today, Kakkis is the founder, president and CEO of Ultragenyx, a biopharmaceutical company that aims to develop treatments of rare and ultra-rare genetic diseases. He also founded the EveryLife Foundation for Rare Diseases, which helps the rare-disease patient community advocate for science-driven legislation and policy.
Kakkis celebrates patients with rare diseases, hoping to inspire other people to fight for every life and equitable treatment.
“It’s really the golden age for rare disease treatment,” he said. “There are still a lot of rare diseases that are too rare and not getting treated, but it is an amazing time to show that you can get these first treatments and have a compelling impact.”