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Hope for Ultra-Rare Diseases

What lies ahead for the future of drug discovery and the way we regulate and pay for advanced therapies?

By Wade Roush 
May 03, 2021, fairobserver.com

Listen to Soonish | EP39: Hope for Ultra-Rare Diseases here.

We’ve spent decades trying to understand human biology, health and illness at the level of our genes. For people with extremely rare genetic conditions, that work is finally starting to pay off. Thanks to the emerging field of hyper-personalized medicine, and the work of new organizations like the N-Lorem Foundation, we’re entering a future where diseases linked to rare mutations don’t always have to be lethal.

In this episode of “Soonish,” you’ll meet Stanley Crooke, the former CEO of Ionis Pharmaceuticals and the founder of N-Lorem, a nonprofit that’s working to make mutation-correcting “antisense oligonucleotide” drugs for people with uncommon genetic diseases. These are conditions so rare they often don’t have a name. But while the diseases themselves are unusual, the problem isn’t: As many as 350 million people worldwide are thought to carry mutations that give rise to unique “N of 1” health problems.

The debut of hyper-personalized antisense medicines is a topic I covered in a March 2020 episode of the podcast “Deep Tech” for MIT Technology Review. Back then, N-Lorem was just getting started. So, I was excited to connect with Crooke one year later and to have the opportunity to go into more depth how antisense drugs work, why they’re well-suited for treating some genetic diseases, and how Crooke realized he could give some patients personalized versions of these drugs for free — and for life. “It was literally impossible until just now,” Crooke told me.

Listen to find out what changed — and what it could mean for the future of drug discovery and the way we regulate and pay for advanced therapies.

Chapter Guide

    • 0:09 Soonish theme
    • 0:23 Jaci’s Story
    • 2:29 Treating Rare Mutations
    • 4:52 N of 1 Medicines and N-Lorem
    • 6:11 The Era of Hyper-personalized Medicine
    • 7:40 Welcoming Stanley Crooke
    • 8:45 Science Digression #1: Genes, Proteins, RNA, and Anti-sense
    • 13:22 Founding Ionis Pharmaceuticals
    • 15:23 Science Digression #2: SMA, Spinraza, and Custom ASOs
    • 20:32 Why N-of-1 Medicines are Impossible…and Not
    • 26:33 Persuading the FDA
    • 29:24 How to Pay for N-of-1 Drugs
    • 32:56 The Limits of Antisense Treatment
    • 35:25 Distributive Justice
    • 37:40 The Role of For-Profit Companies and Government
    • 39:44 The 10-Year Plan at N-Lorem
    • 42:20 End Credits and Acknowledgements
    • 43:47 Hub & Spoke’s Open Source Goes to Casablanca

*[“Soonish” is produced by Wade Roush. Click here for a full list of episodes.]

The views expressed in this post are the author’s own and do not necessarily reflect Fair Observer’s editorial policy.

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