Rare Leader: Lisa Schoyer, Founder and President of RASopathies Network
July 19, 2018
Name: Lisa Schoyer
Title: Founder and President
Organization: RASopathies Network
Disease focus: The RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Abnormalities of this pathway have profound effects on development and can cause one of several different syndromes, including: Cardio-Facio-Cutaneous syndrome, Costello syndrome, Legius syndrome, Neurofibromatosis type 1, and Noonan syndrome (and Noonan with Multiple Lentigines, or LEOPARD syndrome). These syndromes share many clinical features, such as distinct facial features, developmental delays, cardiac defects, growth delays, neurologic issues, and gastrointestinal difficulties. While these individual syndromes are rare, as a group, the RASopathies are among the most common genetic conditions in the world.
Headquarters: Altadena, California
How did you become involved in rare disease: I had a son with Costello syndrome, which is among the rarer classical RASopathies.
Previous career: I was an adjunct professor of studio art at the University of California, Irvine and then Occidental College
Education: B.A. in Art from Yale College and a Master’s in Fine Arts from the California Institute of the Arts
Organization’s mandate: Our mission is to advance research of the RASopathies by bringing together families, clinicians, and scientists.
Organization’s strategy: Our strategy is to grow a community practice around research. We convene biennial symposia to bring families, physicians, and researchers together. We also have a discussion forum to foster collaborative research efforts. Anytime we hear or see something, we work to share it with everybody—the families, the researchers on our scientific advisory board, and anyone who has been involved in our symposia. And we’re working to maintain and develop family-friendly information resources, including a bibliography for lay and professional audiences. We’re working with Invitae to collect information from families to help the ClinVar project on RASopathies, among other things.
Funding strategy: Our funding strategy is pretty much project-specific, such as the biennial symposia. The key piece is National Institutes of Health funding, which is important as much for its proof of scientific quality as its funding. We receive support from partner family advocacy organizations, funds form registration, as well as exhibitors. We also fundraise for the Penn Million Dollar Bike Ride, which provides research funding for selected rare diseases. For that, whatever we raise is matched one-to-one up to $50,000. Also, we support anyone willing to pull together a fundraiser. One of our boardmembers is a yoga instructor, and her yoga studio has been doing Yoga for RASopathies fundraisers regularly. She’ll get restaurants to do RASopathies Nights. We’ll take whatever opportunities float past us. In 2014, we were able to accept Everylife Foundation for Rare Diseases’ offer to host a text message fundraiser for us.
What’s changing at your organization in the next year: We’re looking at how we can contribute and participate in large natural history research projects.
Management philosophy: Do what inspires you and do what you can. Don’t bite off more than you can chew. It’s not you, it’s us. And most importantly, “Yes and”, which validates and opens up discussion in situations where the typical “Yes but” shuts down. We are a working board. We all have families with a child with a RASopathy, so that’s always got to be first on the priority list. And making and maintaining a healthy family relationship must be next to support the affected child. Though my son died from cancer related to Costello syndrome in 2002, my passion is to help Costello families not go through that again. I believe this is the best way not only to help families with Costello syndrome, but other families with mutations on this pathway.
Guiding principles for running an effective organization: Bringing together passionate people with fires in their bellies and big hearts, and the importance of “repair.” Particularly where passion is concerned, there is no such thing as a perfect relationship without things that are said in the heat of a moment, without full consideration of all the consequential effects (which is nearly impossible). The key is to be willing to repair the rift (inadvertent or otherwise) to move forward together toward the mutual goal.
Best way to keep your organization relevant: Keeping a very open conversation with families, listening to them carefully, and sharing what they have to say with the clinicians and researchers, and bringing them together to cross-pollinate and to encourage active and healthy connections on their own as well.
Why people like working for you: They are not working for me, they are working with me. That’s all I can say.
Mentor: I have a couple of mentors. One is Linda Landry, a California developmental disabilities advocate. She is very involved on the local, regional, state and national levels. Readers may know about the national organization, Family Voices, an important resource to connect, educate, train, and advocate for parent-to-parent support and advocacy. I’ve learned the mechanics of advocacy and the political world through her. The other person I want to mention is Sharon Terry at the Genetic Alliance. She was fantastic in helping with board development, and education and amazing opportunities in the rare disease field. It was through their first fellowship with the American Society of Human Genetics in October 2005 that another parent and I were able benefit from, and to put two plus two together between Francis Collins’ keynote presentation on a therapeutic strategy for Progeria that could also possibly help Costello syndrome and the other RASopathies.
On the Job
What inspires you: When researchers validate issues that our families live with and have ideas to address these problems.
What makes you hopeful: When I see serious researchers stimulated to learn more about our children and families. When I can say, “How can we help you help us?” and they are listening. That is cool.
Best organization decision: Agreeing to take on writing the NIH R-13 grants for our scientific meeting. Because it doesn’t earn overhead, researchers’ institutions don’t have an incentive to do the legwork. The benefits include providing the stamp of scientific relevance (at least through the NIH’s eyes), defraying the cost of the symposia, and giving us the opportunity to learn and pull our weight among the researchers as a team that can be relied on to be supportive in their backyard.
Hardest lesson learned: To be judicious with my trust. That’s a lesson I keep learning.
Toughest organization decision: Recognizing and managing the existing value of the compact we have with families. We have a responsibility to the families not to give away the farm.
Biggest missed opportunity: This suggests regret, and we’re just too small to dwell on regret. There have been opportunities we chose not to participate in because we’re too small, but I don’t think we would call them “missed.” We all do this as a work of love. We are a networking organization, not a typical business with a developed infrastructure.
Like best about the job: I like best being taken seriously by researchers and having conversations that are meaningful and will help our families.
Like least about the job: What I like least is all the nuts and bolts— the federal, state, and local administrative nonprofit status work, such as pricing insurance policies and all the financial responsibilities for the organization. I have a master’s in fine arts and those activities are not my strength, but it’s landed on my lap and someone has to do it.
Pet peeve: People who say they will do something and then they don’t carry through.
First choice for a new career: If I knew that I’d be doing it.
Most influential book: The Lord of the Rings trilogy by J. R. R. Tolkien
Favorite movie: The Princess Bride
Favorite music: Ry Cooder’s later collaborative works and Antonio Vivaldi
Favorite food: Sashimi
Guilty pleasure: Soft cheeses
Favorite way to spend free time: Working on a sudoku puzzle while binge watching a thriller series. If it’s a day or so of free time, planning and executing meals with friends. And if it’s a week or so, floating off the Maui coast over coral reefs and folding in the other two. Did I mention doing laser-cut wood jigsaw puzzles?
July 19, 2018
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