Cookies

Like most websites The Medicine Maker uses cookies. In order to deliver a personalized, responsive service and to improve the site, we remember and store information about how you use it. Learn more.
Subscribe to Newsletter
Manufacture Small Molecules, Dosage Forms, Drug Discovery, Business Practice

The Manipulation of Genetic Machinery

Muscle weakness. Joint pain. Breathing difficulties. Spinal muscular atrophy (SMA) is a rare disease that presents patients with myriad physical challenges. But patients and their carers must also deal with the emotional and psychological burden of the condition.

Though a cure does not currently exist, pharma companies are in pursuit of treatments to simplify disease management. Roche’s recently approved RNA-targeting small molecule Evrysdi (risdiplam) was designed to manipulate the genetic machinery of cells to restore lost function. Paulo Fontoura, Global Head and SVP of Neuroscience and Rare Diseases Clinical Development at Roche, acknowledges that the approach sounds like science fiction – but it’s very real. SMA is caused by a deficiency in survival motor neuron (SMN) protein – the result of a mutation in the SMN1 gene. Evrysdi acts as a splicing modifier of a second gene, called SMN2, whichboosts the levels of functional SMN protein (SMN2) in the central nervous system and peripheral tissues. 

Bringing this approach to reality alongside partners at PTC Therapeutics has meant that patients worldwide have been able to access treatment. And for its considerable impact on the SMA community, the drug received the British Pharmacological Society’s Drug Discovery of the Year Award. Small molecule drugs are, after all, easier to manufacture than their bio counterparts, potentially increasing accessibility.

In this video, Fontoura shares his views about the company’s approach to the production of Evrsydi, as well as his thoughts on the future of small molecule development.

Receive content, products, events as well as relevant industry updates from The Medicine Maker and its sponsors.
Stay up to date with our other newsletters and sponsors information, tailored specifically to the fields you are interested in

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

Register to The Medicine Maker

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Medicine Maker magazine

Register