Gene Therapy is an umbrella term for delivering targeted genetic material to replace, modify or suppress gene expression in patients affected with genetic diseases. It comprises different technologies (antisense, virus-mediated gene replacement, and other gene-directed therapies) that have been very recently developed with a potential to cure severe genetic diseases. Read more about different approaches HERE.

“In the past, when we’ve tried gene therapy, we haven’t had tools that have allowed targeted gene correction”. – Jennifer Doudna

Technologies are progressing rapidly, with press releases announcing big breakthroughs every month. Based on the report from January 2021, there are currently 284 gene therapy programs available for 130 different disease conditions (www.bluematrix.com).

Gene therapies have made a huge progress since the US approval of Luxturna (Spark/Roche) and Zolgensma (AveXis/Novartis) in 2019. Both of these programs have demonstrated that gene therapy can be successfully delivered to different tissues and that they can be very efficient.

“To get something that you can dose at really high levels peripherally, and then get it into the CNS was what was really missing.” – Christian Lorson

Luxturna was the first gene therapy to treat an inherited retinal disease for children and adults with vision loss caused by a mutation in the RPE65 gene. A one-time treatment designed to provide a working copy of the not working gene restores vision and improves sight (www.novartis.com)
A one-time treatment designed for children with SMA, has also shown significant unimaginable benefits. Presymptomatic babies with SMA treated with Zolgesma soon after birth had no delays in achieving milestones. Normally, these babies would die before their second birthday (www.novartis.com). The growing number of children who are now, thanks to Zolgensma, meeting their motor milestones in a timely manner, demonstrates the promise of gene therapy.