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Gabrielle Rushing is the science program director at , an organization dedicated to finding a cure for Okur–Chung Neurodevelopmental Syndrome and supporting patients and families affected by the rare disease.

A new employee at a new foundation

The organization is new, launched in 2018, because the disease is newly recognized, having been characterized and named in .

Rushing was hired as the organization’s first full-time employee in April of this year after , the president and founder of the foundation, attended a for parents working to find cures for their children with rare diseases. Sills’ daughter has OCNDS. It became clear that she needed a scientific director to move the foundation’s scientific efforts forward.

The job was originally advertised as a part-time position, but soon Rushing was asked to work full time. She said she could’ve made part time work (“I have my bartending license!” she noted), but she was happy for the chance to devote all her time to the mission.

Gabrielle Rushing earned her Ph.D. from Vanderbilt University in 2019.

Rushing’s job as scientific program director resembles that of a principal investigator in academia. “I’m developing the research roadmap,” she said.

As a new employee of a new foundation studying a new disease, she must approach things methodically and make good decisions.

She is currently working on her landscape analysis. That entails “assessing where we’ve been, where we are and where we want to go.” Specifically, she’s reading up on what’s known in the field, figuring out what projects are ongoing, and identifying areas where there is a need for more research. For example, she found that no one was studying induced pluripotent stem cells from patients, an aspect of research she wants to pursue.

The biggest difference between her role and a PI’s role is that she doesn’t have a lab. All the research that she plans and organizes is done by collaborators or through outsourcing. The foundation hires contract researchers, collaborates with academics and partners with industry.

Much of her time is spent on writing grants to fund these research endeavors. These proposals often are similar to the R01 grants that PIs at universities write. She recently applied for a grant that funds programs that keep patient needs at the forefront.

She said she sees grants as an opportunity to catalyze potentially fruitful collaborations between different researchers in academia. She recently collaborated with a researcher in France to submit an application to the Department of Defense’s Autism Research Program.

The research plan she’s developing is informed by her literature knowledge but also by meetings with lab and clinical scientists, meetings with the organization’s scientific advisory board (which includes physicians Volkan Okur and Wendy Chung, after whom the syndrome is named), and attending conferences.

Another important way she informs her research plan is through learning from patients and families. She listens to what they need, what problems they are encountering in daily life, and what their priorities are. She said she is committed to developing a research plan that includes the patients and families.

“I’m presenting a roadmap not just having patients be the research (subjects) but having them be engaged,” she said. She brought up a that was first was used in the disability rights movement in the 1990s: “Nothing about us without us.”

Rushing said she wants to include patients and families but “it’s just hard because caregivers are busy.”

Getting into patient advocacy work

Rushing started on her path to patient organizations while earning her Ph.D. at Vanderbilt University. She did an internship at the TSC Alliance, a patient advocacy organization for the genetic disease tuberous sclerosis complex.

Rushing said she loved the work. She helped organize the organization’s patient-focused drug-development conference, at which patients share their experiences, report on the side effects of drugs that need to be addressed, describe symptoms that need more attention, and talk about things that limit daily life that researchers might not realize. The goal was to make sure the researchers are working on projects that will meet the needs of patients.

After her internship, she became a research consultant for the Thisbe and Noah Scott Foundation, which advocates for childhood neurological diseases. She then returned to the TSC Alliance as a full-time associate director of research when she graduated, starting in January 2020.

Today, she's  happy in her new role at the CSNK2A1 Foundation. “I thought I would be more stressed than I am, being the only full-time employee, but any stress that I’ve had is mostly self-induced,” she said.

She works hard and really appreciates the support of the people working alongside her to make the foundation work. Rushing said that Sills, the president and founder, is a supportive boss and happy to find ways to help Rushing develop in her career. “She’s always sending me webinars or conference ideas or workshops, like how to use AI tools. She’s very supportive in trying to stay with the times.”

Advice to others

Rushing said that “internships are great” for people thinking of moving into patient advocacy. “They give you a sense of the day-to-day and give you networking opportunities,” she said.

She also suggested improving your project-management skills — and even taking business principles classes. Public speaking skills can be extremely helpful as well, she said.

It’s also important to consider what the environment will be like. At her organization, and at other small organizations, there isn’t necessarily much interpersonal interaction if you are working remotely, as Rushing does. “If you are extroverted and like day-to-day team interactions, it might not be the thing for you. You have to be self-driven and not need a lot of immediate feedback,” she said.

Rushing said that she has always been independent, and this job fits her personality well: “I like the flexibility and freedom this job allows me to have in my life.”