Q&A with Efrén Muñoz

Meet Efrén Muñoz, a Scientific Associate on our Curing NF Team. In the two years since Efren has joined the Gilbert Family Foundation, he has made significant contributions to our Curing NF team, shaping our data practices and implementing new processes to ensure our data is useful and easily findable. Efren also works across research areas in support of our scientific program managers in their work, and his curious mind and enthusiasm are an asset to the development of our initiatives. In his spare time, Efren is deeply involved in his community through volunteering and community engagement, and these experiences have had a profound impact on his approach to work and life.

Q: How does your cross-disciplinary background in physics and molecular engineering benefit or prepare you for your work at the Gilbert Family Foundation?

A: In my role on the Curing NF team, I lead our FAIR Data Initiative (Findable, Accessible, Interoperable, and Reusable), which is a guiding philosophy in the data community to ensure data is as useful as possible from experimental design to repository creation. I help shape the NF Data Portal, an open-access platform that serves as the NF community’s data repository. I have also been increasingly more involved in assisting our scientific consortia in preparing their data for upload and learning about FAIR data practices.

My background in physics has been profoundly enriching as it instilled in me a deep appreciation for the fundamental principles that govern reality. This discipline fosters problem-solving, critical thinking, and a relentless pursuit of knowledge. Molecular engineering has allowed me to apply a first-principles approach to create precise and accurate constructs at the molecular level.

Together, these disciplines manifest my desire to understand the fundamentals in FAIR data and repository support and design to shore up any deficiencies currently present in the NF Data Portal, which is necessary to address the needs of our grantees as soon as possible. Both disciplines have provided me with a deep understanding of how massive amounts of data will scale quickly in a biomedical context. This includes a comprehensive understanding of various data standards, particularly in genetic and proteomic sequencing which have been important, and we see growing exponentially for our work at the Gilbert Family Foundation.

Q: What inspired you to pursue rare disease research?

A:  As luck would have it, a conversation with a former team member of Curing NF convinced me to join this field! At that point, I had little knowledge of neurofibromatosis or what constitutes a rare disease, aside from a brief mention in my human physiology course at Wayne State. What drew me in was the collaborative community she spoke about, the ongoing research funded by Gilbert Family Foundation, and the potential impact that these therapeutic treatments could have for the broader medical field.

While there are clinical nuances to consider once a therapeutic treatment is identified (especially because NF1 has a plethora of manifestations), thoughtful and well-planned experiments can open up many new doors that leading to groundbreaking results. These findings can pave the way for research into diseases with similar manifestations to those found in NF1.

Q: What recent breakthrough in NF research are you most excited about?

A: There is some exciting research set to publish in 2025 that I can’t discuss yet! However, at the last Children’s Tumor Foundation Annual Meeting in Belgium, there was significant discussion about repurposing another drug to treat NF1. This is particularly exciting because repurposing an FDA-approved drug can expedite the development process once its efficacy for the disease has been established, and potentially lead to another treatment for NF1 patients. There is only one other drug to have gone through this process for NF1 treatments. So that’s something we can keep an eye out for!

Q: What’s the most rewarding aspect of working on the Curing NF team?

A: I would say it is a gift to be surrounded by thoughtful, intelligent, and hardworking team members. I have been continuously challenged, maximizing the opportunities I have to grow and refine my own thinking. But it’s a collaborative process and we exchange knowledge and ideas. All my colleagues on the Curing NF team have acquired their own PhDs and lead a scientific team, whereas I came to this job immediately after grad school. It brings me joy to know that my own professional development has reached a level where I am seen as an equal peer in many respects.

Q: What gives you hope about the future of NF treatment?

A: As I mentioned before, I work with a world-class team. More broadly, the scientists I’ve met at our annual meetings for Gene Therapy Initiative (GTI), Vision Restoration Initiative (VRI), and Brain Tumor Initiative (BTI), as well as at national and international NF community meetings are some of the most talented individuals leading projects with wide-ranging impact toward creating therapeutic treatments for NF1.

In the general scientific community, you often hear the word “novel.” There are novel techniques, treatments, and basic science discoveries, but many do not materialize beyond contributing to our collective knowledge. This isn’t the fault of the scientists but rather the nature of how projects are structured; many publications suggest how someone else might use a technique, discovery, or treatment in the future.

In our NF community, you quickly find publications with follow-through from the same research group or collaborators that continue to expand discoveries and realign the community towards potential therapeutic treatments. This community partners with as many people as possible to maximize their research efforts and align with a plan that leads to clinical treatments. I’m proud of how we on the Gilbert Family Foundation have contributed to these advancements.

Q: You’re very involved in supporting the local Detroit community. How do you feel that this has impacted your life and career?

Growing up in Southwest Detroit, especially in Springwells Village and Mexicantown, was a golden era of my youth. My family and community instilled a strong work ethic, emphasizing support for family, community, and others. Starting at age 14, I spent over eight years in commercial concrete work, learning resilience and the value of hard work. This experience made me realize I didn’t want to continue physical labor for the next 50 years, so I pursued a technical degree to impact my community in new ways, eventually leading me to work with the Gilbert Family Foundation.

The community I grew up in was vibrant, with kids playing outside, neighbors chatting, and clean streets. However, as I grew older, I noticed Detroit’s decline despite news of Mexicantown’s growth. The sense of community and strong Catholic faith that once united many in Southwest Detroit began to fade, with fewer church participants and less engagement.

By middle school, this shift motivated me to get involved in charity work with local parishes, a commitment I continue today. I engaged the community through Catholic ministries focused on clean-ups, sharing meals, and providing shelter. I felt a strong call to also support Catholic organizations assisting single mothers and boys without father figures.

These efforts, along with the work of my colleagues at the Rocket Community Fund and the Gilbert Family Foundation, have helped me proudly talk about Detroit and the resilience and beauty that the city has to offer. My commitment to Detroit began with these experiences, and I continue to support the community to this day.