Gene therapy for the win, CRISPr with RNA, and growing telomeres without gene hacking.

Jun 05 2016

The past couple of weeks have brought with them some pretty interesting advances in the field of genetic engineering. So, let's get into it.

The first is, as far as anybody can tell, a working genetic therapy regimen for SCID, or severe combined immunodeficiency syndrome. SCID has long been colloquially referred to as "bubble boy syndrome" after David Vetter was born in 1971.ev with the condition and a movie was released about his life in 1976.ev, due to the fact that children born with the condition utterly lack a functional immune system; the slightest illness is likely to kill them in short order. Of the hundreds of immune disorders that humans can be born with, SCID is interesting in that there are no less than thirteen genetic mutations which can cause simultaneous B- and T-lymphocyte dysfunction. While there have been a number of treatments developed over the years which have met varying degrees of success none of them has been called anything like a cure, let alone a commercially viable one. Pharmaceutical megacorporation GalaxoSmithKline has unveiled Strimvelis, a practical implementation of a gene therapy technique developed at the San Raffaele Telethon Institute for Gene Therapy in Milan that, as far as anybody can tell completely cures SCID. It involves extracting bone marrow from the patient, separating the stem cells from the marrow, and applying a retrovirus that deletes the defective gene and replaces it with a corrected sequence of base pairs. The modified stem cells are then re-inserted into the patient where they pick up production of B- and T-lymphocytes that function normally. Eighteen children over the last fifteen years have undergone treatment with Strimvelis and every one of them no longer show signs of being afflicted with SCID, a helpful sign if I ever saw one but, as with many things, guardian optimism is the way to go. Advisors in the EU formally recommended that Strimvelis go on the market in April, and there are reportedly plans on the desktop for seeking US approval in 2017.ev. Suffice it to say that this is going to kick over a lot of anthills when it hits the market; for a very serious disease this completely breaks the "treat it continually" model of commercial medicine, especially for a rare disease which perhaps one hundred people are born with every year.

It remains anybody's guess how GSK is going to make their projected 14% return on investment on Strimvelis. I'm kind of afraid to see what the price tag is going to be.