Identification of disease-associated genes and elucidation of pathogenesis for ALS based on the personal genome analysis

Fumiaki Tanaka (Department of Neurology,Nagoya University Graduate School of Medicine)

Naoki Atsuta (Department of Neurology,Nagoya University Graduate School of Medicine)

Gen Sobue (Department of Neurology,Nagoya University Graduate School of Medicine)

Amyotrophic lateral sclerosis (ALS) is an intractable disease characterized by progressive muscle weakness and atrophy caused by specific motor neuron loss and degeneration. Its pathogenesis remains unsolved and satisfactory therapeutics does not exist.

We have established Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) in 2006 from the perspective of future genome medicine aimed at elucidation of mechanisms and therapy development for ALS. JaCALS collects patient DNA and longitudinal clinical information with participation of 20 research institutes from all over Japan.

In this project,we promote personal genome analysis using next-generation sequencer and genome informatics based on our JaCALS resource. We identify novel disease-causing genes of familial ALS and disease-associated genes harboring rare variant in sporadic ALS under collaboration with the joint-research facilities in order to develop a new-generation strategies for ALS research. Also we analyze the association between gene variants specifically found in ALS and longitudinal clinical data to identify genes directly connected to clinical use. Furthermore,we will develop markers for diagnosis and prognostic prediction based on these genes.

Our project will establish a foundation for realizing the personalized medicine based on the analysis of personal genome of ALS patients and will be one of the most advanced ALS researches. In addition,we will foster young researchers playing a central role in the future personalized medicine.