🔮 The $100 billion genomic revolution
Why your grandkids will consider CRISPR as normal as taking vitamins
Hi, it’s Azeem.
Here’s the thing about platform technologies that most people miss: the greatest value creation happens when seemingly distinct technologies converge into a unified ecosystem.
In late 2023, the FDA approved the first CRISPR gene-editing treatment for sickle cell disease. But this isn’t just about CRISPR; it’s about the entire genomic technology stack coming of age simultaneously. Gene editing, gene therapies and sequencing are projected to create a market exceeding $100 billion by 2030. But that dramatically understates the total addressable market as these capabilities move from treating ‘rare’ diseases to addressing common conditions.
To put all of this into perspective, we’re bringing you an exclusive excerpt from Dr.
’s new book Super Agers: An Evidence-Based Approach to Longevity1. While Eric explores many technological frontiers in longevity science, we’ve chosen to highlight Chapter 8 on rare diseases because genomic medicine represents the ultimate platform technology – what begins as treatments for “rare” conditions today will become the foundation for addressing common diseases – and lifespan – tomorrow.
Eric is a renowned cardiologist and digital medicine pioneer. You may know him from our conversations about lifespan and AI in healthcare. Eric’s been a friend of Exponential View’s for many years and we’re delighted to bring his work to you.
Enjoy!
Curing rare diseases
Super Agers by Dr Eric Topol, Chapter 8
You might ask why a book on health span would include a chapter about rare diseases. It’s because our current approaches to curing rare diseases will play an increasing role in managing common diseases. The most consequential life science breakthrough of our era is genome editing, which is already being applied for patients with cancer and heart disease. That’s just the beginning. At the very least, your children or grandchildren may undergo some form of genome editing during their lifetime. But before we can fast-forward to ponder the future, let’s get grounded. Here and now, the big picture is that “rare” diseases, cumulatively, are common.
Six percent of the world’s population suffers from about ten thousand rare diseases, which equates to well over four hundred million people. The vast majority of the diseases, more than 80 percent, have a genetic basis. According to the European Union, a rare disease is one that affects less than one in two thousand individuals, and an ultra-rare disease has a prevalence of less than one in fifty thousand people. The US FDA categorizes a rare disease as occurring in less than one in two hundred thousand people. The term hyper-rare has been applied to prevalence of less than one in one hundred million. So, there’s clearly a wide range of terms and definitions that span several orders of magnitude. But even conservative estimates of the cumulative proportion of those affected by diseases most people have never heard of is between 3.5 and 5.9 percent. More than one in twenty? That’s a lot.
In the 1980s, sequencing the genes of bacteria led to the discovery of unusual DNA stretches that were called CRISPR and were later found to be part of bacteria’s defense system against viruses. The unusual palindromic repeat stretches of bacteria DNA were coded for RNA that matched invading virus genes and helped destroy them. This natural defense system has been around for billions of years. But in 2012, a paper in Science with the arcane title “A Programmable Dual RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity” woke us up to a new possibility in life science: CRISPR could precisely edit DNA in test-tube experiments using a guide RNA and the Cas9 molecular scissors enzyme. (Cas stands for CRISPR-associated proteins.) Like the seminal 2005 discovery by Katalin Karikó and Drew Weissman for blocking mRNA-induced in vivo inflammation, it attracted little notice initially, but later it was the basis for a Nobel Prize awarded to Jennifer Doudna and Emmanuelle Charpentier. Within a year of the CRISPR discovery, there were multiple reports of precise DNA editing in animal and human cells.
Over the next decade, CRISPR technology underwent intensive refinement to improve the accuracy and precision of editing, reducing the chance for off-target effects.