New national strategy will address challenges faced by people living with rare diseases

A Cork-based research team is developing groundbreaking gene editing strategies that target multiple variants to tackle rare diseases. At the genetic level, we each have many, small variants in our DNA that make each of us unique. Occasionally, one of these variants disrupts the instructions for making an essential protein in our body. This is … Continued

Genetic testing and screening are available for this serious, debilitating and sometimes fatal hereditary disease, hATTR amyloidosis. Rosaline Callaghan, a retired Barrister living in Derry, learnt that she carried the gene mutation that causes  hereditary ATTR amyloidosis, in 2007. At that time, she was told that finding a treatment for this fatal disease was unlikely.  … Continued