3 ms·

The name seems very ungoogleable (like "telescope astronomy") but there you are at the top of the results. This seems exactly the kind of work that's tradition

The name seems very ungoogleable (like "telescope astronomy") but there you are at the top of the results. This seems exactly the kind of work that's traditionally been done via public research. What's your advantage here? Easier ethics? I don't see an insider bonus vs a local university, and 23 and me can beat you with scale. Rare diseases are notoriously difficult to commercialize (if they were common they'd be found already, if they're rare the target market is small) Did any drugs come out of similarly low diversity regions in the West like the Orkney islands or Tasmania? How long did that take?

sbmcdonald 7y ago
Newfoundland isn’t just low diversity, it's actually a collection of hundreds of isolates. And, because of our ability to combine genetic data with uniform medical records, we will be able to derive insights from small cohorts (hundreds or thousands) that would take millions to find in admixed populations, if at all. The rare variants found in isolated populations are not necessarily rare disease targets. For example, the very rare mutations in SCN9A led to a novel class of analgesic (one of the broadest medical indications). However, the combination of new therapeutic modalities like cell and gene therapy, together with a more flexible regulatory and payor environment for rare disease does allow companies to economically pursue treatments and cures for rare conditions. We believe a private entity is the best way to create value for both participants and industry for two reasons: (1) public projects haven’t succeeded in delivering value to participants themselves - the benefits accrue mainly to researchers and secondarily to public health; (2) to really create value from a population cohort you need more than just data - you need to produce valuable insights like drug targets and real world evidence. As a private entity, we can invest to create that value. The ethical requirements are the same for public and private entities, and as mentioned, we spent 5 years helping build the right ethical framework to ensure Newfoundlanders, and the province as a whole, benefit from our research.

sbmcdonald 7y ago

Newfoundland isn’t just low diversity, it's actually a collection of hundreds of isolates. And, because of our ability to combine genetic data with uniform medical records, we will be able to derive insights from small cohorts (hundreds or thousands) that would take millions to find in admixed populations, if at all. The rare variants found in isolated populations are not necessarily rare disease targets. For example, the very rare mutations in SCN9A led to a novel class of analgesic (one of the broadest medical indications). However, the combination of new therapeutic modalities like cell and gene therapy, together with a more flexible regulatory and payor environment for rare disease does allow companies to economically pursue treatments and cures for rare conditions. We believe a private entity is the best way to create value for both participants and industry for two reasons: (1) public projects haven’t succeeded in delivering value to participants themselves - the benefits accrue mainly to researchers and secondarily to public health; (2) to really create value from a population cohort you need more than just data - you need to produce valuable insights like drug targets and real world evidence. As a private entity, we can invest to create that value. The ethical requirements are the same for public and private entities, and as mentioned, we spent 5 years helping build the right ethical framework to ensure Newfoundlanders, and the province as a whole, benefit from our research.