[대학원 생명과학과 세미나 안내]
연사 : 김진국 교수(KAIST)
연제 : Patient-customized oligonucleotide therapy for rare genetic diseases
일시 : 2021년 05월 21일 (금) 오후 5시
장소 : 온라인 화상 강의로 진행됩니다.
초청교수 : 지성욱 교수
Abstract
Genome sequencing has been revolutionizing the diagnosis of rare diseases, but many of these conditions lack specific treatments. We recently demonstrated how molecular diagnosis of a child with an ultra-rare, fatal neurodegenerative condition led to rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug, tailored to the patient. Proof-of-concept experiments in patient cell lines served as the basis for launching an n-of-1 trial of milasen within one year of patient contact. There were no serious adverse events and treatment was associated with seizure improvement. This study offers a template for the rapid development of patient-customized treatments for rare neurological disorders in a timely fashion. It is an example of individualized genomic medicine that merits further exploration for scaling to a larger number of patients with various rare genetic conditions.