김진국 교수

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after f

A new approach for the optimal design of mixed refrigerant cycles is presented. It is based on mathematical programming and offers significant improvements in relation to previous approaches. It includes multistage refrigerant compression, full enforcement of the minimum temperature difference in heat exchangers, simultaneous optimization of variables, consideration of capital costs, and the use of stochastic optimization (genetic algorithm) to overcome local optima. The approach can be applied

Abstract Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases 1 , but the systematic identification of such individuals remains a challenge. Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia-telangiectasia, a severely debilitating and life-threatening recessive genetic disorder 2,3 , yielding a complete molecular diagnosis in almost all individu

Glioblastoma multiforme (GBM) is the most aggressive form of brain tumor, yet with no targeted therapy with substantial survival benefit. Recent studies on solid tumors showed that fusion genes often play driver roles and are promising targets for pharmaceutical intervention. To survey potential fusion genes in GBMs, we analysed RNA-Seq data from 162 GBM patients available through The Cancer Genome Atlas (TCGA), and found that 3' exons of neurotrophic tyrosine kinase receptor type 1 (NTRK1, enco

Abstract An automated approach from the systematic investigation of interactions between cooling‐tower performance and the cooling‐water network design was developed for retrofit design of cooling‐water systems. Introducing reuse of cooling water between different cooling duties enables cooling systems to be debottlenecked. The series arrangement of heat exchangers, however, results in a pressure drop increase because of the cooling water reuse. An optimization model for cooling‐water networks d