Philadelphia's Push: Breaking Barriers in Rare Disease Research

Philadelphia's Push: Breaking Barriers in Rare Disease Research

Philadelphia is emerging as a national leader in rare disease research, and the latest BioBuzz BioInnovation Series event on March 18th highlighted this growing momentum. Hosted at Quorum at uCity Square, the event brought together over 150 attendees, including scientists, biotech leaders, and patient advocates, all focused on tackling the challenges that hinder progress in rare disease treatments. Co-organized with Wexford Science + Technology and uCity Square, the event fostered meaningful discussions on how to drive innovation and collaboration in this critical area of medicine.

The Urgency of Rare Disease Research

The statistics are staggering: one in ten people is affected by a rare disease, yet half of all rare diseases lack research support. The average diagnostic journey takes more than six years, and 95% of rare diseases still have no FDA-approved treatment. Addressing these challenges requires a multidisciplinary approach, and this event served as a hub for thought leaders to exchange insights and identify solutions.

This was the second event in BioBuzz’s nine-part BioInnovation Series, a platform dedicated to sparking high-impact conversations in the life sciences. The evening’s panel brought together experts from across the rare disease ecosystem, each offering a unique perspective on how to accelerate progress.

Advances in Gene Therapy: GEMMA Biotherapeutics

Philadelphia has become a hub for groundbreaking advancements in gene therapy, largely due to Dr. Jim Wilson’s pioneering work. After leading the Gene Therapy Program at the University of Pennsylvania for 30 years, Dr. Wilson transitioned his 400-person team into the public sector to expand its impact. This shift led to the formation of two companies, including GEMMA Biotherapeutics. Founded in 2024, GEMMA is advancing gene therapy, particularly for rare diseases, with a focus on developing cost-effective platforms for treatment.

The panel had the privilege of hearing from GEMMA’s Chief Corporate Affairs Officer, Monique Molloy, who has over 25 years of experience working alongside Dr. Wilson. She emphasized GEMMA’s mission to create transformative therapies and shared her insights as a panelist on the future of gene therapy. Molloy highlighted the potential for gene therapy to revolutionize treatment not only for rare diseases in the U.S. but across the globe.

One of GEMMA’s major achievements is a $100 million research agreement with Brazil’s Ministry of Health, which aims to expand access to life-changing treatments for underserved populations worldwide. This agreement further underscores Philadelphia’s growing influence in the biotech space.

While gene therapy presents tremendous potential, challenges such as scalability, affordability, and patient access remain. Overcoming these hurdles will require continued investment, collaboration, and supportive policy frameworks.

Drug Repurposing: Every Cure’s Innovative Approach

In 2010, Dr. David Fajgenbaum, cofounder of Every Cure, was a third-year medical student when he was diagnosed with Castleman disease (CD). After spending months in critical condition and nearly dying five times, he was told there were no more treatment options. Waiting for a new therapy—one that would require billions of dollars and 10-15 years of research—was not an option. Repurposing an existing drug became his only hope. Driven by his own life-or-death battle, David launched an initiative to find treatments for CD and other rare diseases. He and his team discovered an overactive pathway in his blood and tested sirolimus, a 25-year-old drug approved for kidney transplants but never used for CD, to block that pathway. As a result, David has been in remission for over 11 years.

While companies like GEMMA focus on cutting-edge gene therapies, Every Cure is taking a different approach. The nonprofit organization is dedicated to drug repurposing, using AI and big data to identify FDA-approved drugs that could serve new therapeutic purposes. During the panel, Mary Zuccato, Chief Operating Officer of Every Cure, shared her personal connection to Dr. Fajgenbaum and how her relentless commitment to helping him inspired her to leave her corporate job to help found and run Every Cure. Mary offered valuable insights into the company's mission, as well as the challenges of using AI to repurpose existing drugs.

A major challenge for Every Cure is the fragmented nature of electronic medical records (EMRs). Critical data, which could lead to new treatments, is often siloed across different institutions, making it difficult to analyze potential drug-disease correlations. Despite this, Every Cure continues to make progress and has garnered support from high-profile initiatives, including the TED Audacious Project, the Elevate Prize, and ARPA-H funding.

By accelerating drug repurposing efforts, Every Cure aims to provide faster, more cost-effective treatment options for rare disease patients. As AI-driven research continues to evolve, the potential for discovering new uses for existing drugs will only grow.

The Human Side of Rare Disease Research

Scientific advancements are just one part of the equation—at the heart of these efforts are the patients and families living with rare diseases. The event highlighted powerful firsthand accounts from individuals who have faced the challenges of rare diseases, emphasizing the urgency of continued research and advocacy.

The event kicked off with the BioInnovation Series’ signature Patient Talk, where Rob Long, a suburban Philadelphia native and former All-American punter at Syracuse University, shared his personal journey with anaplastic astrocytoma, a rare form of brain cancer. Diagnosed during his senior season in 2010, Long underwent 16 months of intensive treatment, facing an uncertain future. While his NFL dreams were derailed, he found a new purpose in advocacy, eventually becoming the Executive Director of Uplifting Athletes in 2018. Rob’s story illustrates the profound impact of rare diseases and the critical need for ongoing research and support. He also spoke about his important work with Uplifting Athletes, a community unified by the belief that no one should feel alone. They harness the power of sport to invest in the lives of people impacted by rare diseases, creating hope for the future. 

Another compelling perspective came from panelist Cait Butrica, Director of Development at Life Science Cares Philadelphia and a mother of a child with a rare disease. Her advocacy for healthcare equity and raising awareness for rare diseases is deeply personal—she shared the journey of her daughter, Evie, and the challenges they’ve faced in seeking a diagnosis and treatment. Cait spoke about the real impact a rare disease diagnosis has on a family, highlighting the emotional, financial, and physical toll it takes. A tireless advocate, Cait is now working in the life science sector and continues to drive awareness and support for patients. She emphasized the importance of community and the need for collaboration to support those impacted by rare diseases.

The Future of Rare Disease Research

As the discussion concluded, panelists reflected on the next steps needed to accelerate progress in rare disease research. The key takeaways included:

• Scaling Gene Therapy: Advancements in gene therapy must be accompanied by improvements in manufacturing and distribution to ensure broader patient access.

• Leveraging AI for Drug Repurposing: Harnessing big data can help uncover new treatment possibilities for rare diseases, speeding up the drug development process.

• Advocacy and Awareness: Greater public awareness and policy support are needed to sustain research efforts and secure funding for rare disease initiatives.

Philadelphia’s life sciences ecosystem is well-positioned to lead these efforts, with institutions like Penn, CHOP, and a growing network of biotech startups driving innovation. The BioInnovation Series continues to provide a platform for these critical conversations, ensuring that rare disease research remains a top priority in the region.

About the BioInnovation Series

Launched by BioBuzz, the BioInnovation Series is designed to drive meaningful conversations and foster collaboration within the scientific community. This nine-part series focuses on cutting-edge topics in biotechnology, providing a space for scientists, industry leaders, and entrepreneurs to share insights and explore solutions to pressing challenges.

BioBuzz would like to recognize the sponsors that make this initiative possible: Qiagen, Biocair, Brandywine, B+Labs, Choice MedWaste, Workforce Genetics, CRB, uCity Square, Wexford Science + Technology, Connor Strong, Kymanox, and Keen Gas. Their support enables BioBuzz to continue delivering high-quality programming that advances the life sciences ecosystem in Philadelphia.

Looking Ahead: AI in Biotech

The next event in the BioInnovation Series, "AI in Biotech," is set to take place at CIC on April 9th. With artificial intelligence playing an increasingly central role in drug discovery, diagnostics, and personalized medicine, this event promises to offer valuable insights into how AI is shaping the future of biotechnology. As Philadelphia continues to establish itself as a leader in life sciences innovation, these discussions will be critical in driving the next wave of scientific breakthroughs.