Rare Leader: Paula Evans, founder and chairperson, Foundation for Angelman Syndrome Therapeutics (FAST)
February 18, 2021
Name: Paula Evans
Title: Founder and Chairperson
Organization: Foundation for Angelman Syndrome Therapeutics (FAST)
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Disease focus: Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide. Children and adults with AS typically have balance issues, motor impairment, and debilitating seizures. Some individuals never walk. Most do not speak. Disrupted sleep cycles also can be a serious challenge to the individual and caretakers. Individuals with AS require continuous care and are unable to live independently. They have a normal life expectancy.
Headquarters: Downers Grove, Illinois
How did you become involved in rare disease: My child was born with Angelman syndrome. I had never heard of it. Most people hadn’t, at least back then. I had no background in rare diseases or genetic disorders when they suggested testing her for a genetic disorder. I thought that was crazy. I didn’t even know genetic disorders could happen if there was no history of it in the family. That’s how ignorant I was back then. My daughter was diagnosed when she was 10 months old. I started the patient organization on her fourth birthday.
Previous career: Currently CEO of GeneTx Biotherapeutics
Education: Bachelor’s degree in architecture from the New York Institute of Technology
Organization’s mandate: We are laser focused on developing and identifying therapeutics for Angelman syndrome.
Organization’s strategy: We instituted an aggressive philosophy, almost like venture philanthropy, where we were very involved in what we funded and how we funded it. It included everything from basic science to translational science as well as what we needed to do to evaluate potential therapeutics in this patient population because those tools didn’t exist. That was our mission. We started at the end of 2008. If you recall, 2008 was the last financial disaster that this country went through, so it probably wasn’t a great time to start a nonprofit organization with a mission and message that most people had never heard of. And then the people who had heard of it thought it was crazy. Back then it was a different world. The thought of activating a gene or replacing a gene in the central nervous system in the brain of a child was science fiction. Even for members of my own community, parents like myself, this was a radical new message that they were hearing. Cureangelman.org is our URL and talking about developing therapeutics, not just to treat the symptomology, but to actually change the course of the disorder, and treat the disorder and its root cause was pretty radical back then. Of course, now it’s happening. But back then it was a crazy new message. It took us some years to gather up enough funding to start funding our first research grants. But after that, it was a remarkable story of what the FAST organization has been able to do and accomplish.
Funding strategy: I looked very closely at my own community and what I thought was lacking as a parent, what I would have wanted to see, experience, and contribute to. I was an active fundraiser for another organization that already existed in the space. And then I wanted to do more. I wanted more money to go into translational research. And at that time, the existing organization really existed for support purposes. And I felt we had enough support. What we needed was the hope that our children could have a more independent life. I was friends with a well-known celebrity whose child has Angelman syndrome. After I started the organization, what elevated it was that we started doing a gala for parents only. It was a very different experience for parents in this particular community because typically any get-togethers involved the children, and when you’re chasing your child around, it’s hard to network, talk to other parents, and even get dressed up and have a nice adult time. We created something called the FAST Gala. I had celebrities attend and it was very different for the community. We did a big-ticket giveaway to our fellow parents, and it just exploded in attendance and in reputation. We raised a significant amount of our money around our yearly gala. One year, a couple of years ago, we were able to raise more than $4 million in one evening.
What’s changing at your organization in the next year: We have two disease modifying therapeutics that are being trialed right now. These are antisense oligonucleotides. This coming year will be exciting because we’ll start getting in some additional data on each of those studies. One is being conducted by Roche and one is conducted by GeneTx Biotherapeutics. Angelman’s syndrome is a unique disorder. Angelman is caused by the loss of function of a gene in the brain, but it’s a gene that is an imprinted gene. We each get two copies of each gene, one from our mom and one from our dad. Both of them typically perform a function. If there’s something wrong with one of them, the other parent copy typically compensates. But there are a handful of genes in our genome that are parent-specific or imprinted. And for whatever reason through evolution the body decided only one copy is going to be active and performing its function. And one of those imprinted genes is the UBE3A gene. If you are born and the UBE3A gene that you get from your mom is not functioning correctly, you have Angelman. You still have your dad’s copy, but it is silenced because it is an imprinted gene. With Angelman syndrome, we have multiple pathways to think about treating the disease at its root cause. You can either replace the missing maternal or you can try to activate the normal, silent paternal copy. The therapies that are in trial right now are exploring the approach of activating that normally silenced paternal copy. I’m most excited to see if this approach is indeed valid, effective, and successful.
Management philosophy: I’ve always assembled a team of bright individuals from day one. Our philosophy was that we held the future of our children in our own hands and we were going to direct what that future looked like. A lot of organizations, especially when I first started FAST, modeled themselves on the gold standard of the NIH. They cobbled together some money, put out an RFP, got a bunch of applications, and funded the best one. We never did that.
We knew what we needed to do in order to actually treat this disorder. We knew what the paths were. And we aggressively went out and found the best scientists that could do that work. And then we committed an A-to-Z funding package to them. They didn’t just get $100,000 to do some basic science proof-of-concept work and then try and get the remaining funding from the NIH. When we fund a program, we fund it in its entirety. We were aggressive in that manner. We were also aggressive in how our contracts were written. If there was a remarkable discovery that was made in the laboratory, we made sure it wasn’t going to die in that laboratory where most excellent research and advances in science and medicine do so. That’s really the story of genetics. We funded one particular program, which was looking at the mechanism that silences the paternal copy of UBE3A. We funded that program for five or more years. At the end of 2017, we realized that the researcher that we were funding for that particular project identified a target on that mechanism that was most amenable to manipulation. We did some quick proof-of-concept work with an antisense oligonucleotide. And that was enough for us. Even though we funded all of that work, the university and the scientists own the intellectual property. We went and licensed that back. We licensed the IP and formed our own biotech to develop that and bring it to clinical trial.
I spend a significant amount of my time these days mentoring other rare disease parents or patient organizations. There’s been this mind shift of just how much power you can have in this space as a patient organization, driving the research, and driving the progress towards meaningful therapeutics. People, in a similar position to me having a child with a rare disease or starting a patient organization for rare disease, all want to do what we’ve been able to accomplish. I mentor a lot of them on how they can lay that groundwork to make sure they’re controlling the narrative and they’re controlling the progress.
Guiding principles for running an effective organization: It’s just gathering the best and the brightest from a varied skillset. From my personal experience with FAST there were so many ingredients that needed to go into this recipe to make it successful. You had to understand what good science is. You had to know what good a contract was. You need good scientists, good attorneys, good marketers, good PR people. It was a whole long list and, like I said, you get the best and the brightest. You sit down and say, “We’re here. We need to get there. How do we do that?” And you map out your course and you just start working. We sat down and defined a roadmap to get us from where we were to where we needed to be. And we just worked relentlessly on making that roadmap a reality.
Best way to keep your organization relevant: Understanding what your constituency wants. Understanding what the parents want. We’re in a fast-moving world. It’s communication to your community. Your community has to know what you’re doing, how you’re doing it, and why you’re doing it. I’m, I’m a parent of a special-needs child. I know how limited people’s time is. You don’t have a lot of time as a parent to sit down and read scientific journals and all of that. Give me three bullet points. Why do I need to raise money for you? What is this? What does it mean for my child? What difference is the money I raise going to make next week, next year, in the next 10 years? It’s making sure they understand why it’s so important to do it now, even if it’s something that’s not going to turn into a therapeutic in six months, but it’s a necessary rung in that ladder to get to where you need to go.
Why people like working with you: I was in the right place at the right time. I was ignorant enough when I got this diagnosis to say to myself, “It’s one gene in the brain. How come we can’t treat that?” Had I been educated in this field I probably would’ve never taken on this endeavor because I would have realized just how difficult it was. When I was given my child’s diagnosis, as many parents were in my shoes, you’re told there’s no hope. Just get them into therapies and give them love. There’s just no hope. That was the resounding message. I tend to be an optimistic person. I felt there’s always hope. If you don’t have hope, you have nothing. I just kept saying to myself, “It’s one gene out of all the genes in our body. Don’t tell me, ‘There’s no hope.’” I was dumb enough to think I could do it, which helped. I think it was my conviction and my optimism. Once you start ticking off results, then you know, then that’s pretty contagious. Everyone gets pretty excited about that. Everyone wants to be a part of that.
Mentor: I had a couple of mentors. I was fortunate first to meet a scientist by the name of Edwin Weber. He was doing work in the Angelman space and I went to a conference that he was speaking at. I had dinner with him, and I was hooked. He wasn’t an Angelman researcher. He was an Alzheimer’s researcher. He did this Angelman study that was really remarkable at that time. He told me at that dinner that he was going back to Alzheimer’s because there was no money in Angelman syndrome research. I made a deal with him that if he stayed with Angelman research, I would raise the money and he became my first mentor. Then there was another doctor by the name of Scott Dindot, who happens to be the inventor of the GeneTx GTX102 drug. He was also a phenomenal mentor to me. I owe so much to those two scientists. I will never be able to properly repay them, but they were very patient and oftentimes had to go over something a hundred times until I could finally understand it.
What inspires you on the job: It’s hard to stay inspired. I’ve been at this now 13 years and all my time at FAST has been as a volunteer and it’s a lot, especially in the last year with COVID and the children at home. Every time I’m ready to say “Maybe it’s my time to turn over the reins,” something exciting happens and it sucks me back in. Now, it’s the most exciting time it’s ever been because we have two potentially disease-modifying therapeutics in clinic, and there’s many more right behind them. The science is fascinating, and the technology is amazing. Things that were completely science fiction—that we were ridiculed about 12 years ago—are now in clinical trials and changing lives. We will look back at this time, especially rare diseases of the central nervous system, as the most miraculous time in our lives. There are real treatments being developed. There are real treatments moving into the market. The lives of countless people are going to be positively impacted by that.
What makes you hopeful: The science. I will tell you that watching the development of the COVID vaccines. I’m just amazed by the science and the scientists. It gives me hope now across the board, from my own child, for others suffering from rare diseases, to this horrible global pandemic that we’re all dealing with. My faith is in science and the scientists. We have nothing but hope on our side right now.
Best organization decision: There’s been wonderful decisions from additional people that we have put on our board, to different science we funded, to starting our own biotech. I have a phenomenal team and we make smart and excellent decisions. That has placed us where we are today. I hope everyone does what we do now: funding our own science from A to Z, and taking that science and licensing it and getting it into the clinic ourselves. You don’t need a pharma company to come along with a $100 million interest. We push that boulder up the hill every day. And here we are testing what could be life-changing treatments by taking matters into your own hands, and being the defining voice at the table. We took the power. Our parents in this community, our fundraisers, took the power and they made the impossible possible. And here we are.
Hardest lesson learned: Being patient with the process. It’s funny because now things are happening very quickly. If I came into the Angelman space now, I would think, “Wow, this is all just par for the course. You’re just going to turn on this gene or replace the one that’s missing and have a real therapeutic.” I strive to bring some speakers to my events that can explain to the more newly diagnosed families, just how much reverence they owe to the ones who came before. I try and get speakers in to speak to that. We didn’t wake up and get here in one day. It was a lot of hard work. It’s easy for me now to look back, but if you had told me when I started this how long it would take to get these kinds of therapeutics into the clinic, I don’t know if I would have taken on this beast of a job. Learning to have some patience along the way was the hardest lesson for me.
Toughest organization decision: We’ve had numerous tough decisions. When you work hard to fund a program and you come to the realization that maybe that program isn’t worth pursuing anymore, that’s always tough. You’ve put time, energy, and resources into that and then it doesn’t pan out—it doesn’t look like it’s going to be a promising path forward. That’s always tough and you have to decide we’re not going to fund this approach anymore.
Biggest missed opportunity: I don’t think we’ve had any missed opportunities. I feel blessed that my organization was able to raise enough funding that we never had to leave anything on the side to pursue something else.
Like best about the job: The community. I’m a parent first and foremost and everything that motivates me is this community. It’s unique. I would imagine that anybody that’s in a rare disease community, especially involving children, would say the same thing. I can only speak for mine. It’s just an amazing community. When one of our children is not doing well, everyone rallies. If you have a question and you post this into our social media channels, you’re going to get a hundred responses in five minutes. That’s always been my motivation. It’s always been my reason for doing this. It’s been at times a very hard job. Juggling being a special needs parent and all that entails, and then being a foster mom and all that entails, and then running a company as a volunteer, has definitely been challenging. Every time I have gotten frustrated, or feel that I’m just worn out, or need a break, the community pulls me right back into why I’m doing this and who I’m doing it for. It turns me right around and gets me back on track.
Like least about the job: The details because I’m managing so much. I don’t think that’s exclusive to me. Life’s been hard to manage during COVID, especially when you have children that are home all day, who are really isolated. Our children have a very difficult time wearing masks. Most of them don’t. It’s been hard running the day-to-day and the details of running the day to day, while also living the life of an isolated, rare disease parent where you’re now a teacher and a therapist and all the other things.
Pet peeve: People who are not honest with the people that they’re serving or representing. You have to be honest. Don’t try and score cheap points. Honesty, in the end is, is the way to go. Don’t suggest that something’s going to be a treatment if it’s not going to be a treatment. I believe in being honest.
First choice for a new career: I love mentoring other parents in this space who are trying to do what FAST has done and take their destiny into their own hands.
Most influential book: I love reading. I haven’t had time to read. I read research publications.
Favorite movie: I have not seen a movie in ten years.
Favorite music: Alternative music
Favorite food: Sushi and pizza. A friend of mine makes a meal that is currently my favorite—tenderloin with a side of fettuccine Alfredo and a Caesar salad.
Guilty pleasure: I like to have a cocktail and sit by the pool and listen to good music.
Favorite way to spend free time: Same as my guilty pleasure.
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