What We Do
We set the agenda for the therapeutic landscape for AS and help to accelerate it, from funding promising research at the academic level all the way to starting companies; create the necessary infrastructure outside of drugs and their development, from projects like our global registry and newborn screening to preparing for regulatory approval processes and advocating for insurance coverage; and we activate and educate those in the worldwide AS community interested in and committed to clinical trials, and what the future of drug development will be for our loved ones.
To see our roadmap to a cure, go here.
For decades, small non-profit disease organizations modeled their funding philosophies after the National Institutes of Health (NIH). They would budget research dollars, put out a once-a-year call for applications, wait for scientists to come to them with ideas, select the most promising applications, and then just…hope for results.
This slow, linear approach was barely working for diseases with millions of afflicted patients, and patient organizations with budgets in the hundreds of millions. It hardly seemed like it would yield promising fruit for Angelman syndrome, a rare syndrome which was then thought to affect only about 1 in 15,000 people worldwide, and which was garnering little to no attention in the research community.
Rather than sit on the sidelines of the research and development game, throwing money here and there at those on the field, FAST, established by founder Paula Evans, decided to insert itself as an active player in the process. Driven by an all-volunteer board of AS parents—including founding board members Elke Sprow, Reggie Hamm, Becky Burdine, Sharon Claridge, Maiddy Dunigan, Melissa Elkins, Kena Richert, Erin Sheldon, Terry Sullivan, Karen VanPuyenbroeck Doyle, and Sharon Weil-Chalker—FAST adopted a business model that enabled it to assess the landscape of potential research areas related to AS; seed that landscape through generous grants; and, if and when lightning struck, shepherd new insights or technologies from the academic space to the pharmaceutical one—all the while maintaining input and control over the direction of the research.
Conscious that parents worldwide were seeking therapeutics for their children and wanted to contribute to the search for a cure, FAST began to seek partners across the globe. In 2010 FAST Australia joined the FAST family. Later, affiliates from the United Kingdom, Canada, Italy, France, Latin America, Poland, and Spain joined FAST—creating a truly global force.
One of the early insights, which began to drive all of FAST’s work, was that successful treatments are never discovered on their own; the more efforts underway in a given field—and the more diverse—the more likely it would be to find truly effective therapeutics, and eventually one that could be considered a cure.
In 2013, with the support of the Azout Family, the FIRE (FAST Integrative Research Environment) team was born. Conceived by Dr. Becky Burdine, this concept—which was ahead of its time—brought together scientists from different academic institutions to work together instead of in their own silos. The team was led by Dr. Ed Weeber, and included Drs. David Segal, Scott Dindot, Anne Anderson, and Kevin Nash. Over time, it grew.
In 2015, Dr. Allyson Berent joined the board of directors at FAST, and in 2016 became the Chief Science Officer. With a focus and expertise in translational research as a clinical researcher herself, Allyson began working closely with the board of directors and the FAST FIRE team, as well as investigators not yet working on Angelman syndrome research, to help ignite progress, and revamp FAST’s “Roadmap to a Cure”—updating it into a step-by-step plan outlining the details of what it would take to bring proof-of-concept data in cell lines or animal models to human candidates for clinical trials. This new roadmap had three features: a clear need, a clear path, and a clear price tag. It outlined six disease-modifying strategies that, at the time, seemed to hold the most promise for AS—each one of which had its own price tag. The total for all of them was $5.8 million.
Based on the precision and strength of this plan, in 2016 FAST secured a monumental gift from the Marnier Lapostolle Foundation, founded by the family responsible for Grand Marnier liqueur, who were inspired by a family member with AS. The amount? The full $5.8 million.
It’s hard to overstate the importance of that gift in the history of AS. In one fell swoop, six disease modifying strategies, in addition to other initiatives, were supported to be able to get from proof-of-concept in cell lines or animal models to human drug candidates. Six! To put this into perspective, most rare diseases have one or two options to consider, and very few ever reach human candidate drugs. In an instant, the Angelman syndrome community got not one or two, but six shots on goal to move closer to patients. Having this many options, and the funds to support them, was a dream come true.
One of those early grants bore fruit, in the form of an investigational antisense oligonucleotide drug. To make sure it moved securely through the initial developmental process, FAST founded its own biotech company called GeneTx Biotherapeutics. In July 2022, based on promising interim data, Ultragenyx Pharmaceutical acquired GeneTx—putting this large and exciting company in the driver’s seat for a promising potential AS treatment.
We still have five other disease modifying platforms in the works from our original “Roadmap” that have not yet reached clinical trials, and since that time an additional five programs have also shown sufficient promise to be advanced toward human application—bringing us to a total of eleven possible gene targeted methods to treat AS. And we know more is coming as technology advances. (See here for our current pipeline.)
To top it all off, we also invest in a myriad of projects related to supporting all of the work that has to happen around drug development, both before and after, to ensure that it moves safely and quickly—from creating animal models and cell lines for each genotype to achieving landscape alignment on endpoints and biomarkers, which are required to accurately measure the effect of a drug has on patients in clinical trials. For more about these efforts, visit here.
FAST is committed to ensuring that all programs reach the right inflection point to know if each has a clear path forward. Some will and some won’t. We cannot stop at the first or the second idea when it’s our job to chase down every possible option for transformative treatments, and to filter out the absolute best ones for everyone around the world living with AS—regardless of genotype, and regardless of age.