EP 145: Navigating rare disease drug development regulations with Daniel O’Connor

0:00 Intro to The Genetics Podcast
01:00 Welcome to Daniel
02:04 Defining rare disease in the age of personalized medicine
04:57 Key touchpoints with the Medicines and Healthcare products Regulatory Agency (MHRA) when developing a new medicine
09:27 Improvements over the course of Daniel’s career when it comes to incentivizing and making the path to developing therapeutics for rare diseases easier
12:03 The importance of orphan drug designation and what it means for treatment development
14:28 The unique challenges within clinical trial design for rare diseases, including sample size and ethical considerations such as control arms
17:22 How to quantify the scientific rigor of ultra-rare studies and small population research
18:56 The technologies which have been most impactful during the past 20 years and those which Daniel predicts will be the most impactful going forward
22:14 Rare Therapies Launchpad: Building the infrastructure and policies to ensure patients with ultra-rare mutations are connected with potentially relevant therapies
23:19 Working with the International Rare Disease Consortium and the importance of coordinating on an international level
26:30 How to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of seeking medical attention
29:28 How a career move from working with the MHRA to The Association of the British Pharmaceutical Industry (ABPI) has impacted Daniel’s perspective
32:17 The changes the UK could make to further improve its position as one of the best places in the world to do research
35:33 Creating greater flexibility within regulatory systems to better enable use of preventive treatments
37:26 The challenges of mitigating the uncertainties of preventive treatments and benefit-risk balance over time
38:39 Considering scientific validity versus cost of therapy when developing new preventative treatments
41:17 Closing remarks
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