CRISPR Gene Editing Tackles Rare Diseases

Calendar February 7, 2022 | Posted by admin

Paddy Doherty remembers his father as a proud, hard-working family man who stayed physically fit for most of his life. A career in construction and various home improvement projects kept him active until his 60s, when Doherty first caught glimpses of a worrying decline in his dad’s health.

“I noticed him getting breathless on walks. He’d stop for a while and maybe make an excuse for stopping, saying, ‘Oh, isn’t that a lovely tree’ or whatever,” said Doherty, who lives in Ireland. Doctors chalked it up to angina, or chest pain caused by reduced blood flow to the heart, symptomatic of an underlying heart problem.

But two years later, when Doherty’s father died of a sudden heart attack, the true cause was discovered: a rare disease called transthyretin (ATTR) amyloidosis, characterized by a misfolded protein that builds up in the heart and interferes with normal function.

“Patients left untreated with this type of amyloidosis develop heart failure, low blood pressure, horrible bowel disturbance, and eventually become incontinent of urine and feces,” said Julian Gillmore, nephrologist and head of the National Amyloidosis Centre at University College London. “It’s a truly awful, gradually progressive disease that is ultimately fatal.”

In February last year, Doherty – now about age 65 – began to experience the same early breathing symptoms his father had had. As an avid hiker who has trekked the Himalayas, he was surprised to find himself getting winded on local hill walks. Testing confirmed that Doherty had a hereditary form of ATTR amyloidosis.

But there was one bit of good news: If Doherty had been diagnosed even a year earlier, no treatment options would have been available to him – an all-too-common situation for over 30 million U.S. patients with rare diseases. But Gillmore, Doherty’s doctor, offered him the chance to participate in an early stage clinical trial using CRISPR, a groundbreaking genome editing therapy with the potential to cure his ATTR amyloidosis in a single dose.

Source: https://www.unionleader.com/

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