The 69th In Silico Megabank Research Seminar will be held on Tuesday, January 12, 2016. This Time, we will be welcoming Dr. Gen Sobue, Nagoya University Graduate School of Medicine as our lecturer, and he will be speaking on “Search for amyotrophic lateral sclerosis pathologically related genes using Japanese genome”.

・Date/Time: January 12 (Tuesday) 3:30 pm‐5:00 pm
・Venue: Conference Room(3rd Floor), Tohoku Medical Megabank Building
・Title: Search for amyotrophic lateral sclerosis pathologically related genes using Japanese genome
・Lecturer: Gen Sobue（Nagoya University Graduate School of Medicine）

＊This lecture is transferable as a class in the medical research-related lecture course.

・Abstract: Amyotrophic lateral sclerosis (ALS) is an intractable neurological disease that requires permanent wearing of a respirator or results in death after a few years from its onset due to worsening muscular atrophy and worsening muscle weakness caused by the altered decidual of motor neurons. About 10% of ALS patients are thought to have a monogenic disease and multiple causative genes are identified; however, the pathologically related genes or molecules for the vast majority of sporadic ALSs are not yet fully revealed. It is necessary to identify sporadic ALS pathologically related genes and molecules in order for the pathophysiological analysis and the development of treatment methods.    We have developed a JaCALS which is the multi-institutional joint registry system of ALS patients and accumulated prospective clinical information, genomic DNA, and immortalized lymphocytes of 1140 ALS patients. Also, utilizing this resource, we have produces some results such as the identification of ZNF512B as a sporadic ALS pathologically related gene and the indication that low expression of Titin is related to rapidly progressive sporadic ALS by conducting genome-wide association studies (GWAS) based on Single Nucleotide Polymorphisms (SNPs).
In recent years multiple rare variants hypothesis, where numbers of variants with low allele frequency and uncommon SNPs are contributing to the pathophysiology of sporadic diseases, has been proposed. The purpose of this study is to identify sporadic ALS related variants through association studies using sporadic ALS genome of JaCALS and control at Tohoku Medical Megabank Organization. It is expected that the analysis of exome sequencing of 750 sporadic ALS patients will be complete by the end of this year, which means that we are well established enough to start association study smoothly. If any sporadic ALS related gene is found as a result of the study, we plan to proceed with the preparation of disease model, pathophysiological analysis, and treatment agent screening by iPS cell generation from patient with specific genotype.

・Organizer: Masao Nagasaki