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A young girl’s custom gene therapy hints at a framework for tailored rare disease treatments

Bree Iskandar (STAT)

July 12, 2023

When Timothy Yu developed milasen, a custom drug for a young girl named Mila with Batten disease, he ignited a spark in the field of personalized medicine. Milasen was the first medicine specifically designed for a single person, and it was developed in just about a year.


In response to milasen, nonprofit organizations have emerged calling for the development of personalized therapies for the estimated 400 million people living with rare diseases worldwide. These medicines, colloquially called “n of 1” therapies, are often made to treat debilitating genetic conditions that are too rare to garner interest from pharmaceutical companies.

Now, in a study published Wednesday in Nature, Yu, an attending physician at Boston Children’s Hospital in the division of genetic and genomics, and his colleagues have developed another personalized medicine, called atipeksen, for a young child with a genetic disorder called A-T, or ataxia-telangiectasia.

A-T is caused by a mutation in the genetic code of a key enzyme involved in DNA damage repair. The mutation prevents proper processing of the enzyme, rendering it inactive. Ultimately, this inactivity causes severe neurodegeneration and reduces a person’s life span to 25 years on average.

Like milasen, the development of atipeksen was sparked by another passionate parent to two sons with A-T.

Iskandar, B. (2023, July 12). A young girl’s custom gene therapy hints at a framework for tailored rare disease treatments. STAT.



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