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On Saturday, June 27, Genetic Alliance hosted its Run for Rare 5K benefit in Del Mar. The morning of running, walking, and fundraising was the cumulation of many years of dedication and hard work for Genetic Alliance and its program iHope
iHope, which was the main beneficiary, has a mission “to expand access to genetic testing and follow-up care for children and families affected by rare diseases, regardless of social status, income, or geographic location.”
Rooted in science and fueled by a deep ambition to help children and families, Sharon Terry and Ryan Taft started Genetic Alliance to connect individuals with the technology they knew worked
“My background is in genomics; I was always a very happy academic. Until I met a family that had a child with a rare disease. The father had paid out of pocket to have the child’s genome sequenced in 2011, and at the time that was not a thing. He ended up with so much data, wandering around trying to analyze it. I met them through happenstance,” said Taft
When Taft was confronted with the realities of rare childhoods diseases, he knew he could not sit idly by
“What you quickly learn in the rare disease space is that there are tons of unmet needs, phenomenal people and you just cannot walk away. It is a community that drags you in very quickly,” said Taft
The father that Taft met did not want to get off the phone until he agreed to help, and overcome with the urge to do just that, Taft agreed
“I did it. It took us about 18 months, but we figured out exactly what was wrong with this boy. My life changed overnight, and I thought to myself ‘I want to bring this to every kid on the planet who needs it,’” said Taft
Taft quickly halted any other work projects and focused his energy on creating a program that would offer solutions to families and individuals
“I went to Illumina Biotech, who makes the core DNA sequencing technology,” said Taft
When Taft joined the team at Illumina, he knew there was a long road ahead, but he didn’t want to wait
“We started helping patients right away, in 2014. It grew over the next 10 years, and we did about 300 to 500 patients a year. We started in the U.S. and later moved to lower and middle-income countries. We ended up with about 15 clinics, who send samples to Illumina,” explained Taft
Eventually, Taft and his team were able to scale the program and move out of Illumina
“We moved away from a single lab to a distributed network of laboratories. We onboarded a ton of laboratories and played matchmaker between the laboratories and the clinics. They thought we were insane, but we knew it would work,” said Taft. “We understood the local communities, we had built trust. It sounded really risky but we knew the space so well.”
Since officially opening their doors in 2014, Genetic Alliance has become home to many heartwarming and groundbreaking success stories
“We have stories each week. One of our favorites is a patient in Mexico, this little girl came into a clinic we work with in Tijuana. They knew it was something genetic, it turned out she had a very treatable metabolic disorder. She went from not being able to walk to walking out and playing on the playground outside. She went from not attending school to being in school, she went from not being able to write to writing her name, and the treatment was a ketogenic diet and vitamin B1 supplementation,” explained Taft.
The story is an example of the physical success when a family finds the root cause of an issue, but another huge aspect to Genetic Alliance’s work is the mental relief families and patients feel
“It now connects them to a community. They’re not alone, because for nearly all of these, even ultra-rare conditions, there’s somebody else out there. Right. But you don’t know how to connect to them, or their family, or their clinician, unless you have that piece of information,” said Taft
With no plans of stopping their work anytime soon, the Run for Rare 5K was a cumulation of years of dedication and hard work. Hosted in Del Mar, the day was a celebration of families, patients and the work they have put in
“It was just right time, right place, right partner,” said Taft
With a great deal of focus on fundraising and awareness, there was still plenty of time for fun
“We did a few fun things, too. In the lead-up to the race, I was trying to think about what silly thing can I do to kind of get people’s attention? And in the rare disease world, there’s a phrase ‘Think horses, not zebras.’ That phrase is meant to be like ‘if you’re you’re a GP and somebody comes to you, and it looks odd, think of the common thing first, not the super rare thing. But we’re all zebras in the rare disease world, so the zebra has become our totem,” said Taft
To honor this, Taft ran the race and spent the morning in a head-to-toe zebra costume
While iHope was the primary beneficiary of the run, it is just one program of Genetic Alliance, whose mission to serve those with rare diseases remains a through line with all their programs
More information on Genetic Alliance and iHope can be found athttps://geneticalliance.org
