Patient Voice

First participant in the world to receive CRISPR gene-editing treatment for hereditary ATTR amyloidosis

Ann Deegan, from Ballinagore, Ireland, was diagnosed with hereditary amyloidosis in 2019. In 2020, she became the first person globally to receive CRISPR-Cas9 gene-editing treatment at Richmond Pharmacology, a pioneering trial that has significantly reduced her TTR protein levels. A retired nurse, Ann is now a fit and active grandmother who enjoys life, exercise, and time with her family. Having navigated the challenges of a rare disease, she is a passionate advocate for awareness and early diagnosis, supporting patients through Amyloidosis Ireland and public speaking. Ann believes in empowering others with knowledge and hopes her experience will inspire patients and clinicians alike.

“I rarely talk about being sick, it doesn’t define me. But if sharing my experience can help someone else recognise the signs, seek diagnosis early, or feel hope for the future, it’s worth it. The CRISPR trial has been life-changing, giving me energy, freedom, and a chance to fully enjoy life with my family. Early diagnosis and access to innovative treatments are key. Knowledge truly is power.” - Ann Deegan

Early participant in CRISPR gene-editing trial for hereditary ATTR amyloidosis

James Green, from Burt, Donegal, discovered in 2020 that he carried the TTR gene mutation responsible for hereditary amyloidosis. In January 2021, he received the second dose in a CRISPR-Cas9 clinical trial at Richmond Pharmacology, helping prevent the progression of neuropathy and cardiac complications. James has witnessed the impact of this disease across his family and is dedicated to raising awareness about early diagnosis and treatment. He co-founded Amyloidosis Ireland a patient support group to provide guidance and support for patients and their families navigating this rare condition.

“Being part of the CRISPR trial has been life-changing. It has not only impacted my health, but also my outlook on life and what’s possible for patients with hereditary amyloidosis. I want to help others understand that early diagnosis, access to testing, and innovative treatments can truly make a difference. This is not just about me; it’s about giving hope and guidance to families who may face the same challenges in the future.” - James Green