A Student’s Perspective: Lessons from the 2025 RARE Drug Development Symposium

During my first week as a Harvard College junior, I was delighted to be given the opportunity to attend the Global Genes RARE Drug Development Symposium. Between my classes in Organelle Biology and Biochemistry & Molecular Medicine, I enjoyed venturing to the Harvard Medical School area to
see experts, advocates, patients, and families come together to discuss the development of treatments for rare diseases. I learned that progress in rare diseases depends on cross-disciplinary translation from bench research to analyses of large datasets and community engagement.

The opening session, featuring Dr. Sonia Vallabh, PhD, Director of Prion Therapeutic Science at the Broad  Institute, was particularly inspiring to me. How a lawyer returns to school to earn a PhD in biological and biomedical sciences and becomes a world expert in developing preventive drugs for prion disease demonstrates the drive that an individual with a family history of a disease can have. Dr. Vallabh watched her mother die of an undiagnosed dementia at 52 years of age and then learned that she had inherited the causal mutation, making her at risk for developing the

disease as well. Because no preventative treatments or cures were available, Dr. Vallabh and her husband both retrained as scientists. Dr. Vallabh’s story shows the tremendous need for more research in rare diseases. The Prion Therapeutic Science initiative that Dr. Vallabh leads is developing biomarkers to help detect the disease and new preventive drugs, and she has started a Prion Registry to help people affected by or at risk for prion disease to participate in research.

Throughout the rest of the conference, it became clear to me that discovering treatments for rare diseases is possible, but because each rare disease is uniquely rare, it’s imperative that the rare disease community comes together and learns from each other. Global Genes’ Drug Development Roadmap is a great overview of how advocates can think about organizing research strategies tailored to their disease. I was excited to receive a copy of the Roadmap in my welcome packet and will certainly be keeping it for future reference.

As a concentrator in Molecular and Cellular Biology, I was particularly interested in the session on Therapeutic Modalities & Their Relevance to Your Disease. I was inspired to hear from Dr. Sarah Gladstone, MD, a pediatrician whose son was diagnosed with Wolfram Syndrome nine years ago. She had never seen Wolfram Syndrome as a pediatrician herself because of its rarity, but soon began reading about all the symptoms that develop—from insulin-dependent diabetes to hearing loss to bladder and autonomic dysfunction, which her son calls the “diabetes platinum plus program.” When Dr. Gladstone learned there was no treatment, she took the initiative to pave the way to discover therapeutics for Wolfram Syndrome.

She emphasized the importance of listening to each patient to truly understand what symptoms they are experiencing and what is important to them. Dr. Gladstone also noted that it can be helpful to start with symptom management, and then move on to existing and common drugs, and later potentially repurpose less commonly used drugs. While the ultimate goal would be the one-and-done gene replacement treatment, Dr. Gladstone gave ideas for places we can start to “build scaffolding.” It was amazing to see how Dr. Gladstone’s practical advice was especially motivational to the rare disease patients and family members.

Furthermore, the session on Developing Data Assets to Support Therapeutic Development, led by Wendy Chung, MD, PhD, Chair of Pediatrics at Boston Children’s Hospital, demonstrated the important role that well-collected data has in developing therapies. Collection methods, analytical tools, and mechanisms for sharing data are all key components in creating valuable data sets. As a member of the organizing team for HackRare, a hackathon focused on rare diseases organized by Harvard undergraduates, it was helpful to see that our hackathon problem statements are consistent with the goals of experts in rare disease therapeutic development.

Ultimately, I learned that patient advocacy groups are vital for securing funding, driving the research community, and disseminating information. Starting the school year with the Global Genes RARE Drug Development Symposium was an amazing way to jumpstart my academic year, as it made my coursework feel immediate and real. In class, I learn pathways, assays, and mechanisms; at the symposium, I saw how these concepts can become real medicines.

—Allison Wu
Harvard College ‘27