Ricki Lewis

Dec 22, 2016 7:59 AM EST

Ricki,

I love the Pesach reference for exon skipping in FD :)

Jon

- Jon Coren

Dec 22, 2016 8:24 AM EST

It was strange how that reference never occurred to me before! Glad you appreciate it. Happy Hannukah and New Year!

- Ricki Lewis

Dec 04, 2016 3:31 AM EST

Ricki, what do you think about the costs of gene therapy (and other rare disease treatments)? No doubt what they can achieve is very worthy, but is it sustainable to be bringing drugs that cost so much to market? Is it fair, if once the clinical trials are ended, it's questionable how affordable these treatments are? Can they ever be affordable?

- Andy Extance

Dec 04, 2016 3:54 AM EST

The cost depends upon the specific disease. Yes, Glybera is ridiculously costly, for an extremely rare disease. But the retinal blindness treatments are likely one-time and will not cost much (don't hold me to that though!). I gave a talk for the Glybera people and the underlying idea is to develop cassette-like devices into which different genes can be inserted, so that ultimately gene therapy will not be that costly. You also have to weigh the costs of a one-time treatment over a lifetime of daily pills, or the extremely expensive enzyme replacement and substrate reduction therapies -- these are bimonthly infusions that can cost half a million a year or more. Successful one-time gene therapy in a child would counter a lifetime of other treatments. And like the space program, effects to treat a rare disease can have repercussions for more common variants -- like peripheral neuropathy. Thanks for the great question!

- Ricki Lewis