Resources Blog Webinar recap: Breakthroughs and barriers in rare disease drug development

Webinar recap: Breakthroughs and barriers in rare disease drug development

Webinar recap: Breakthroughs and barriers in rare disease drug development
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In one of our recent webinars, Charlotte Guzzo, COO of Sano Genetics, led a discussion on the challenges and opportunities in rare disease research and drug development. The conversation featured Harriet Holme, chair and founder of PCD Research, whose professional and personal experiences shed light on the current difficulties of rare disease treatments and potential solutions. Read on for a quick recap of the webinar:

About the speakers

Harriet Holme

Harriet studied medicine at the University of Cambridge before working as an NIHR clinician scientist in pediatric hemato-oncology in London and Oxford. She completed her PhD at the Ashworth laboratory at the Institute of Cancer Research, in collaboration with UCL and the Sanger Institute. Her PhD investigated cancer drivers and synthetic lethality in osteosarcoma. Harriet founded and is Exec-Chair of PCD Research, and she sits on the LifeArc Rare Disease National Task Force. Harriet works as a drug development Clinician at Weatherden where she supports biopharma to provide clinical development strategy, including scientific rationale for asset and indication selection, clinical and commercial landscapes of disease, key opinion leader liaison, target product profile development, and synopsis writing. She has experience in a range of anti-cancer agents, genetic therapies and novel anti-microbials from spin out to phase 2 development.
 

About Charlotte Guzzo

Charlotte Guzzo is the Chief Operating Officer at Sano Genetics. With a background in clinical operations and strategic leadership, Charlotte has been instrumental in shaping Sano's integrated platform, which combines genetic testing, recruitment, and long-term patient engagement to accelerate the progress of precision medicine studies.

Key highlights from the webinar

Harriet’s journey to rare disease research

Harriet's path into rare disease research began during her academic career in pediatric oncology. While completing a PhD at the Institute of Cancer Research, she gained an understanding of synthetic lethality in osteosarcoma. The birth of her son, who has a rare condition, led her to change her focus towards rare disease research and drug development, and eventually launch PCD Research to address the lack of treatments for primary ciliary dyskinesia (PCD).

Challenges in rare disease drug development

Harriet highlighted several key barriers:

  • Diagnostic delays: It takes an average of 4.7 years to diagnose rare diseases, even though 80% have a genetic origin detectable at birth.
  • Fragmented patient populations: Without comprehensive registries or newborn genetic screening, locating and enrolling patients in clinical trials is challenging.
  • Economic viability: The small market size for individual rare diseases often deters investment in drug development.
  • Regulatory hurdles: Current regulations require separate approvals for therapies targeting different genetic variants, increasing time and costs.

Solutions for rare disease research

The discussion covered a number of solutions to address these challenges, including:

  • Prenatal and newborn screening: Harriet outlined the importance of initiatives like the UK’s 100,000 Genomes Project and newborn genetic screening programs. Early diagnosis can also prevent irreversible consequences in some cases and improve trial readiness for therapies.
  • Data integration and registries: Using unified data platforms that combine the NHS's patient data and biobanks could make it easier to identify patients and recruit them for clinical trials. Advanced technologies like large language models (LLMs) can further improve this process by identifying potential patients even before they receive a formal diagnosis.
  • Regulatory innovation: Harriet suggested using gene-based proof-of-concept trials to simplify the approval process for new therapies. By building on existing knowledge from these initial trials, regulators could streamline approvals for similar treatments, making the process faster and more efficient.
  • Collaborative efforts: Harriet spoke about how PCD Research has successfully partnered with organizations like Harwell and the Nucleic Acid Therapeutics Accelerator. She highlighted that collaboration between academia, industry, investors, and patient advocates is essential to breaking down silos and driving progress in rare disease treatment.

Future outlook for rare disease treatments

The discussion concluded with an optimistic vision for rare disease research, especially since scientific tools like CRISPR, patient-derived models, and genetic therapies are advancing rapidly. Harriet closed the conversation by saying that aligning the ecosystem—including diagnostics, regulatory frameworks, and clinical trial design—is critical to transforming scientific innovation into tangible patient outcomes.

Summary

This webinar sheds light on the pressing need to align policy, technology, and investment to address the unmet needs in rare disease research. Harriet's work in both clinical and advocacy domains demonstrates how integrated efforts can drive meaningful progress in precision medicine and rare disease treatments.

Watch the full webinar here:

Watch the webinar

 

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