dr. lillicrap has worked in hemophilia b gene therapy research for 25 years. james paddle-grant
the gene for the factor ix protein is located on the x chromosome, which can be inherited from a person’s mother or father. hemophilia, like other x-linked traits, tends to affect males more than females because males have only one x chromosome and, therefore, only one copy of the gene for factor ix.
before the advent of gene therapy, living with hemophilia b required frequent intravenous prophylaxis injections of factor ix to prevent bleeding episodes, imposing physical, emotional, and financial strain on patients and their families.
over the years, o’mahony had a knee replacement and ankle fusion due to joint damage and went through all previous generations of hemophilia b treatment, from plasma-derived products to recombinant factor concentrates.
gene therapy, the result of decades of research
“i’ve always kept up to date with hemophilia science and developments,” says o’mahony, who is currently chief executive of the irish haemophilia society. “when gene therapy came around, and after weighing the risks and benefits with my health-care team, i wanted to try it.”
dr. lillicrap has worked in hemophilia b gene therapy research for 25 years. “the concept of gene therapy is pretty straightforward,” he says, “we give patients with hemophilia a normal copy of the gene they need to make their own factor ix.”