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Taking the lead in Oregon to prevent inherited disease

At OHSU in Portland, Oregon, our clinicians see some of the toughest cases in the region.

Patients come to OHSU struggling with devastating neurodegenerative diseases, rare forms of cancer and deadly heart conditions. Many of these conditions are rooted in our genes as discrete mutations in our DNA. Even though our medical staff is among the best in the business, it’s no wonder many of these patients worry about passing on these conditions to their children.

That’s why we’re exploring a question: What if disease could be prevented at the earliest stage?

Here in Oregon, we’re at the very forefront of basic science research to prevent and treat inherited disease. In 2017, our team generated worldwide news coverage when we reported the successful correction of an inherited mutation in early human embryos that causes hypertrophic cardiomyopathy, a heart disease that can cause sudden cardiac death and heart failure. This disease affects an estimated 1 in 500 people worldwide, including young athletes.

Yet, that deadly disease is but one of thousands of conditions known to be caused by a single gene mutation in DNA. In fact, there are more than 10,000 monogenic heritable diseases affecting more than 600 million people today with limited options for treatment in some cases.

New technologies, such as the gene-editing tool CRISPR, hold enormous promise for correction and preventing passage of disease from parents to children.

OHSU is a leader in this work, in part due to the foresight of policymakers who developed a regulatory environment several years ago – well before “CRISPR” became a household word – that enables basic scientific research involving human gametes and early embryos. Today, we conduct our work in a laboratory under intensive ethical and scientific oversight.

In contrast, one example of a widely condemned application of CRISPR occurred late last year with the revelation of the world’s first gene-edited babies born in China.

We’re concerned that this development will feed a backlash against the legitimate work of scientists around the world, with some calling for a moratorium on heritable genome editing. Although we concur that it’s far too soon for clinical trials, we believe basic scientific research conducted at OHSU is necessary now more than ever. Gene-editing and other technologies are advancing rapidly, and it’s in everyone’s interest to make sure the technology is effective and safe.

That’s not to say we don’t face regulatory hurdles in the U.S.

The National Institutes of Health won’t fund these areas of research, so we must rely largely on philanthropy and private funding to do the basic science necessary to test safety and effectiveness of CRISPR and other gene-editing tools in human embryos. And should our work advance to the point that it’s ready to treat families, Congress has blocked the Food and Drug Administration from providing oversight for such clinical trials in the U.S.

As a consequence, another gene therapy we have already developed at OHSU to prevent the transmission of deadly mitochondrial diseases – called mitochondrial replacement therapy – is now being done overseas. We see that as a loss for American innovation and leadership in medical research, and also raises the risk of desperate families finding their way to countries with much less rigorous oversight than the U.S.

We believe patients and families in Oregon deserve the opportunity to benefit from gene therapy technologies developed here.

Shoukhrat Mitalipov, Ph.D., is director of the OHSU Center for Embryonic Cell and Gene Therapy. Paula Amato, M.D., is an associate professor of obstetrics and gynecology in the OHSU School of Medicine.

A version of this viewpoint was originally published May 17, 2019, by Pulse magazine, a health-focused publication of the Bend Bulletin.

 

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