[초청강연] Antisense oligonucleotide therapy for rare genetic diseases

Genome sequencing has been revolutionizing the diagnosis of genetic conditions, but many of these
conditions lack specific treatments. We recently demonstrated how molecular diagnosis of a child
with an ultra-rare, fatal neurodegenerative condition can lead to rational design, testing, and
manufacture of milasen, a splice-modulating antisense oligonucleotide (ASO) drug, tailored to the
patient - all within one year. An n-of-1 trial of milasen showed no serious adverse events and
treatment was associated with seizure improvement. As the study offered a proof-of-concept for
rapid development of treatments for neurological disorders in a timely fashion, we are further
expanding and refining this framework to swiftly develop treatments for various other neurological
conditions, such as frontotemporal dementia and Parkinson’s disease.