en.Wedoany.com Reported - During the opening plenary session of the 25th Bio-IT World Conference & Exhibition, topics of diagnosis, treatment, and policy in the rare disease field were intensively discussed. The conference examined the current state and challenges of rare disease research from four perspectives—patient experience, AI-assisted diagnosis, venture capital, and policy reform—through four paired dialogues.
The session opened with the real-life experience of a myasthenia gravis patient. Patient Tom Bartlett described the onset of his condition in 2019, noting that thanks to a general practitioner with relevant knowledge, he received a relatively quick diagnosis. He pointed out structural deficiencies in current rare disease clinical data collection: patients are assessed via paper-and-pencil questionnaires, and non-clinical data is difficult for clinicians to adopt. Susan Ward, Founder and Executive Director of the Clinical Trial Advocacy Partners, stated that this gap stems from the lack of billing infrastructure for rare diseases to drive structured data development in electronic health records. She emphasized the need for a very rich and deep ontology to understand the contextual meaning of the data.
In the diagnostic engine segment, Sebastien Lefebvre, Head of Technology, Data, and AI at Aurelis Insights, cited a 2022 report in collaboration with RARE-X using the Orphanet and US OMIM databases, noting that there are approximately 12,000 rare diseases, most with a genetic basis, and a similar proportion have at least three documented phenotypes. He argued that theoretically, about 80% of these could begin to be addressed from a digital perspective. His team built the Rare Answers platform, which combines genome sequencing and phenotypes extracted from medical records to match against the Human Phenotype Ontology. Collaborating with Rady Children's Hospital in San Diego since 2017, the team has reduced the time for whole genome sequencing and interpretation from blood sample to diagnosis to 19 hours, and has since further shortened it to just a few hours. One case involved a newborn girl who experienced seizures from her first day of life; through whole genome sequencing, a sodium channel variant was identified, and after adjusting treatment, her condition stabilized. Lefebvre emphasized that children in intensive care units can receive a diagnosis and treatment within 14 hours, without experiencing the average seven-year diagnostic delay.
William Van Etten, Founder of StarfleetBio, introduced his company's iPhone application, which stores and processes personal genomic data locally and encrypts it using keys held solely by the user's device, addressing privacy risks in commercial genome sequencing. The app also includes a feature designed for rare disease research, allowing users to toggle a switch to indicate interest in participating in clinical trials or cohort studies. Researchers can send queries to the device and receive aggregated responses without accessing personal genomic data.
In the investment perspective discussion, Catherine Brownstein, Scientific Director of the Manton Center for Orphan Disease Research at Boston Children's Hospital and Harvard Medical School, stated that the center collaborated with OpenAI to deploy an agentic AI model in a zero-shot configuration for retrospective analysis of undiagnosed patients, successfully diagnosing those who had remained undiagnosed for years or even a lifetime. Morgan Cheatham, Partner and Head of Healthcare and Life Sciences at Breyer Capital, noted that the most important therapeutic modalities of recent decades—such as antisense oligonucleotides, RNA drugs, and in vivo CAR-T—were validated in rare disease patient cohorts rather than large-scale population trials. The fund adopts a single LP permanent capital structure, arguing that standard venture capital fund cycles are unsuitable for the timelines required for biomedical breakthroughs.
On the policy frontier, Dylan Livingston, Founder and Chair of the Longevity Initiative Alliance, introduced his legislative work on the Right to Try framework. In 2023, the alliance successfully passed legislation in Montana, expanding Right to Try eligibility to all patients regardless of health status and requiring IRB review. A 2% annual tax levied on treatment centers was used to establish a fund for patients lacking financial means. A parallel bill (HB 1734) is currently advancing through the New Hampshire legislature, having passed the House and under consideration in the Senate. Livingston stated that while the U.S. Food and Drug Administration (FDA) has not indicated it would consider combining Right to Try use with traditional clinical trial data, investors may make more informed decisions as a result.
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