"People ignore design that ignores people" -- Frank Chimero

To make a meaningful impact with therapeutics, we realized we needed to start from the heart of the matter—the user experience. Understanding patients' needs, desires, and preferences is the foundation of ideation and the backbone of any valuable project. This year, our Integrated Human Practices efforts have been intentional and continuous, built around honest conversations and iterative feedback as we developed our project. We've had the privilege of speaking with over 40 people from diverse backgrounds—ranging from computational modeling to patenting—to ensure our project aligns with patient needs. But beyond learning from muscular dystrophy professionals, we prioritized FSHD patient input to bridge the gap between scientific research and the patient community.
To achieve this, we embraced the Human-Centered Design framework, a concept championed by the Stanford d.school. The four key principles are:

(1) Solve the Right Problem: Is the problem worth solving? We consider the patient population size and feasibility.
(2) Be People-Centered:If the solution isn't designed around the patient, it won't succeed.
(3) Keep It Simple and Iterative: Growth isn't linear—it's circular. Feedback loops are essential.
(4) Remember Everything Is Connected: A problem doesn't exist in isolation; it's dynamically related to other challenges and realities.

From ideation to execution, we aimed to keep these principles front and center, diversifying our decision-making process. Our ultimate goal was to develop a state-of-the-art therapeutic for FSHD that genuinely reflects patient needs and experiences. Given the variability of FSHD, each patient’s journey is unique, with different needs, priorities, and hopes for treatment. We aligned our goals with these core values by:

(1) Ensure the Utility of Our Project: FSHD is a highly variable disease, and every patient experiences it differently. We wanted to honor this diversity and ensure that by resonating with these diverse stories, our final product reflects the reality of every patient's experience.
(2) Clarify the Clinical Application of dux.:As we planned our next steps, we aimed to align patient and industry expectations to create a reliable drug.
(3) Prioritize Sustainable Growth for dux. in the Industry: Growth begins with design. Including patient voices and professional input was crucial for setting up the project for long-term success.

We recognized our unique position in the FSHD space—we’re a team of young students with the time and resources to delve into a rare genetic disease with many unmet needs. Our interviews showed us that many patients were excited to see students focusing on FSHD. Inspired by this enthusiasm, we aimed to expand our impact by practicing Human-Centered Design through diverse initiatives.

The greatest problem in communication is the illusion that it has been accomplished. — George Bernard Shaw

Initially, we weren’t sure what to expect from patient interviews. It was daunting to figure out the right questions and how to approach such a sensitive topic. But with Heloise, one of our own, as a patient herself, and with support from the FSHD Society’s resources, we developed a list of guiding questions. We spoke with June Kinoshita, Senior Director of Research at the FSHD Society, and Dr. Ria de Haas, Project Manager at FSHD Europe, who helped us reach the wider patient community.

FSHD Society. Raise Awareness - Spread the Word! https://www.fshdsociety.org/get-involved/support-us/raise-awareness/

These interviews were eye-opening. Beyond understanding the clinical symptoms, we gained a deeper appreciation for the human experience of living with FSHD. Here’s what we learned: (1)Push for Accessibility: There’s so much hope in the FSHD space, and meeting the passionate people advocating for awareness every day was incredibly empowering. It reminded us why we’re doing this.
(2)Practice Mindfulness: FSHD is unique for each person, so approaching each conversation with an open mind and no assumptions is essential.
(3)Cultivate Gratitude: We were moved by how the everyday challenges faced by FSHD patients often go unnoticed. The simple act of standing up, reaching for a high shelf, or enjoying a favorite activity can be a struggle. This realization prompted a profound sense of gratitude and mindfulness in our own lives.

And this was just the beginning! To learn more, visit our Patient Consultations page.

Alone, we can do little, so little, together we can do so much. -- Helen Keller

We wanted a direct communication channel with FSHD patients to gather continuous feedback and make their voices integral to our design process. After interviewing around 20 patients from the U.S. and Europe, we decided to make our interactions more than a one-time Zoom call. Instead, we wanted to embed their opinions into our design processes. One way we did this was by involving patients in Stanford BioHacks, a one-day hackathon focused on "Innovations in Muscular Dystrophy." Nine people with FSHD joined the advisory board and provided invaluable feedback to participants through live Q&A sessions and Slack.

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Our key takeaway? Being people-centered made our solutions more meaningful and reinforced our commitment to creating thoughtful, patient-centered innovations, especially in such an interdisciplinary field as synthetic biology.

A journey of a thousand miles begins with a single step, and at every step, we sought feedback before moving forward. We were thrilled to share our progress at several events, including: (1)Bay Area Bioengineering Symposium (BABS): Collaborating with other iGEM teams, we presented our initial ideas to the broader iGEM community in the Bay Area. We left with valuable friendships, feedback, and inspiration.
(2)Early Onset FSHD Roundtable: We worked with the FSHD Society to introduce our team to the broader FSHD community, listen to their questions and concerns, and gather user input for our planned therapeutic. This was crucial as we finished designing our project. Hearing Heloise's story, along with those of other patients, pushed us to consider how to make our work accessible to often-overlooked patients, like young children or those who use wheelchairs.
(3)Stanford Bioengineering and Synthetic Biology Community Talk: We pitched our project to around 20 students and faculty members, followed by a lively Q&A session where we received recommendations and insights.
Learn more about these events in our Integrated Human Practices section!

We got the opportunity to interview leading researchers in the FSHD space. By understanding the priorities in FSHD research and the exciting avenues being pursued by professionals around the world, our team could have a better taste of the whole FSHD system.
We also developed an iHP Handbook in collaboration with iGEM IISER-TVM and CityU iGEM to summarize the extensive applications of Human Centered Design in synthetic biology, highlighting the importance of detaching from personal biases when developing a project and tailoring the solution to user needs.
Check the Integrated Human Practices section for more details!

"Human Practices is the study of how your work affects the world, and how the world affects your work" -- Peter Carr, Director of Judging

Although FSHD currently has no cure, there is immense hope of one in the horizon. Fulcrum Therapeutics, which is in phase 3 of clinical trials, develops small molecules which identify drug targets that can modulate gene expression. Dyne Therapeutics, on the other hand, focuses on utilizing their proprietary FORCE platform to overcome limitations of muscle tissue delivery and advance oligonucleotide therapeutics for muscle diseases.
dux., however, has a different focus: stopping further progression through competitive inhibition, using a natural protein to over-compete the aberrant expression of DUX4. As we think about the implications of this solution and its potential implementation, we strive to keep these four principles in mind to guide our actions with patients at the center.
From these experiences, our team had three main takeaways: (1) Ask the People Who Matter Most: Patients and industry professionals are the best guides for intentional solutions. When we validated dux's therapeutic approach, patients emphasized the urgency of stopping FSHD progression. While regenerating muscle would be the dream outcome, halting the disease's worsening would bring them peace of mind and security.
(2) Let Patient Voices Guide You: Patient insights shifted our perspective and influenced our communication. We learned that even though the clinical outcomes of FSHD are known, they’re often misrepresented in the media. As we thought about how to introduce FSHD to other people ourselves, we aimed to highlight what matters most to patients: the variability of symptoms and the daily challenges they face.
(3) See Hope in Action: We were overwhelmed by the enthusiasm and support we received from the FSHD community. Patients were eager to engage in clinical trials and actively seek ways to help find a cure. Their spirit inspires us, and we’re excited to see how dux. evolves over time.

The four principles delimited are just a summary of our work. We also have developed reserach in entrepreneurship and bioethics, all glued through our collaborations and partnerships.
For next steps, we would like to expand our scope to include further stratification of patient groups based on disease progression, age, and lifestyle factors to create even more tailored therapeutic strategies. As we engaged more with patients, we understood more needs we were initially not aware of, such as the mental health burden of FSHD, the struggle of finding wearables with the high variability of the disease, between others. We aim to keep engaging in these overlooked aspects of muscular dystrophies, raising awareness about their effects in different aspects of a patient’s life while communicating it efficiently.
With hearts full of hope and hands ready to work, we look forward to the journey ahead!