A Tailormade Drug Developed in Record Time may Save Girl from Fatal Brain Disease
Published:24 Oct.2018    Source:AAAS
For years, a Colorado couple searched for an explanation for why their bright, active little girl was having increasing trouble walking, speaking, and seeing. In December 2016, Julia Vitarello and Alek Makovec learned that 6-year-old Mila Makovec almost certainly had Batten disease, an inherited and fatal neurodegenerative disorder. Now, in a stunning illustration of personalized genomic medicine, Mila is receiving a drug tailored to her particular disease-causing DNA mutation—and it appears to have halted the condition’s progression.
 
At the annual meeting of The American Society of Human Genetics in San Diego, California, researchers told the story of how in less than a year, they went from sequencing Mila’s genome to giving her a synthetic RNA molecule that helps her cells ignore her genetic flaw and make a needed protein. The same steps could help some other patients with diseases caused by unique mutations in a single gene, they said.
 
It’s very exciting,” says gene therapy researcher Steven Gray of the University of Texas Southwestern Medical Center in Dallas, who wasn’t involved in the research. “There couldn’t be a stronger example of how personalized medicine might work in practice.