Professor Timothy Yu developed the custom drug milasen named in honor of Mila, an 8-year-old girl with Batten disease. The drug is the first drug specifically designed for one person.
Prof. Yu is a neurologist at the Genomics Division of the Children’s Hospital in Boston. His research lab has expertise in whole genome sequencing with a specialty in unusual genetic mutations causing neurologic disorders.
Milasen was developed under unusual circumstances by a highly gifted scientist. Professor Timothy Yu had no previous experience in drug development. His wife saw a plea to researchers for help to locate a CLN7 gene posted on Facebook by Mila’s mother on Facebook and brought it to the Professor’s attention. He offered to help. In just two months Prof. Yu and his team located the second Batten mutation called CLN7.
He found a genetic mutation that had not previously been uncovered. It was the missing piece of the puzzle. In ten months the ‘idea to injection’ was complete. The professor and his team made headlines (see: StatNews ).
Genes are usually written like a sentence. In Mila’s case, an extra piece of genetic code was tossed into the middle of the sentence. When the cell attempts to translate the sentence and it does not make sense then the cell will stop making the protein.
An Exclusive Club
Prof. Yu and his team have developed a second personalized therapy called atipeksen to treat A-T, or ataxia-telangiectasia.
ASO, or antisense oligonucleotide drugs, are an emerging area of drug development that focus on the disease source at the RNA level.
ASOs such as Spinraza to treat spinal muscular atrophy have had some success as well as Amondys 45 therapy for Duchenne muscular dystrophy. These drugs can treat a large number of patients with only a few genetic mutations. In comparison, Prof. Yu’s team was able to identify 469 potential diseases.
Details of Prof. Yu’s diagnosis were recently published in the New England Journal of Medicine outlining the unprecedented degree of personalization he created for this chemical drug.
A Painful Loss
Milasen slowed Mila’s disease progression and the family saw improvement in her daily activities. But her disease was already advanced and eventually took over. Mila died at the age of ten in February 2021.