How advancements in genetic tools are enabling us to decipher a patient’s DNA and correct the life-threatening mutations

The experience of dealing with a rare disease can be overwhelming for both patients and their families. Diagnoses are often difficult, involving repeated visits to multiple specialists and hospitals. Once a diagnosis is made, patients live with severe restrictions and life expectations as only 5% of rare diseases have an effective treatment or cure. Despite being collectively known as ‘rare diseases’, over 10% of the population is impacted by 7,000 different rare diseases.

It is difficult to understand the emotional cost of disease unless you are touched by it. Duchenne muscular dystrophy (DMD) is one of those 7,000 rare diseases – and one of the most fatal. Duchenne has radically impacted my life and that of my family. My younger brother, Terry, is impacted by the condition. Now 24 years old, Terry has bravely fought against the disease for over two decades in hopes of an effective treatment; yet despite advances, there is no therapeutic option for him, or thousands of other children impacted by not only Duchenne but other rare diseases.

My first memory of the horrors of Duchenne came when I was 13 years old. My brother (who was 9 years old at the time), dad, and I went to see the kid’s movie Chicken Little. Leading the way into the theater, I set our snacks down on the 3rd or 4th row up. As I sat down in the darkened movie theater with previews running, my dad and brother were only a few steps behind me, or so I thought. When I turned around, I saw through the darkness that they were held up at the first step. Confused, I motioned for them to join me. It was then that I saw my brother struggling to walk up the first step. He kept trying but his legs couldn’t muster the strength to climb even one step until my dad picked him up. I never saw steps the same way after that day, and it would become the first of many instances that started an all-consuming fire in me to end this disease and save those affected by it.

Years passed and as stories like these accumulated, I pushed myself to be the best in hopes of creating an opportunity to fight back against this disease. Having the chance to attend Harvard Business School and become a Blavatnik Fellow provided me that window of opportunity. Over 12 years later, I would create Cure Rare Disease with the unprecedented mission to rapidly develop precision medicine therapeutics in a way that pharmaceutical companies have been unable to do as a for-profit model. With collaboration as a perennial bottleneck in the field of drug development, I convinced the world’s leading geneticists and clinicians to collaboratively create a process for developing precision medicines, something that is relatively unheard of in the field.

In the last 5 years, technology has rapidly advanced to a point where we can not only understand the mutations in an individual’s DNA but act to correct those life-threatening mutations. By funding this collaboration, in less than a year our collaborators have developed a tailor-made drug for Terry, using a genome editing technology known as CRISPR activation based on his DNA, that has cured his cells in a dish. Less than 1 year from now, Terry will be the first person in the world to receive this form of therapeutic. We pray it will save his life.

With the potential to rapidly develop precision medicine therapeutics, we aren’t stopping there. At this moment our collaboration, including Yale School of Medicine, Nationwide Children’s Hospital, Charles River Labs and others, is analyzing the genome of two other boys to customize a therapeutic for them. In short time they too will receive a tailor-made drug based on their unique DNA that could stop Duchenne. Our plan is to continue to scale this paradigm-shifting effort to thousands of others impacted by genetic diseases beyond Duchenne – fast enough so that today’s patients will see tomorrow’s cures. What was once a fantasy is rapidly becoming a reality as regulatory systems and technologies advance so that patients don’t have to wait 10 years and $2 billion in hopes of seeing a treatment. As anyone who is touched by a rare disease knows, time is of the essence. Cure Rare Disease is leading the charge to make sure that no patient is forgotten. We are engaging philanthropists, visionaries and leaders across the world who share our vision for a more effective model to treat rare, genetic diseases. With significant successes and the support of global philanthropists such as Sir Len Blavatnik, we are poised to realize the vision of customized therapeutics.

To learn more, please see our video.

Rich Horgan is Founder and President of Cure Rare Disease, which forges collaborations with leading researchers and clinicians to develop customized therapeutics with unparalleled speed.