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The first step to the lengthy process of developing a new drug is the discovery of drug candidate – a compound that shows therapeutic potentials. The study of pathogenic mechanism of rare diseases at NRND have led to some major breakthroughs in understanding polyQ diseases, presenting great potential for developing drugs to restrain and treat …

Drug development for rare neurodegenerative and neuromuscular diseases Read More »

Having dedicated years of work into pathogenic mechanisms, Professor Chan and his team have made remarkable progress in understanding the underlying causes of rare diseases. These new discoveries have made great contributions to biomedical sciences. One case in point is the discovery of the role of Fuz protein in polyglutamine (polyQ) diseases, such as SCA and …

Pathogenic mechanism studies of rare neurodegenerative and neuromuscular diseases Read More »

After more than 4 years of research, Professor Edwin Chan and his colleagues identified a novel genetic mutation that leads to spinocerebellar ataxia (SCA). By means of next generation sequencing, the team first tracked down candidate disease-causing polymorphisms in the patients’ genomes. With concerted experimental and bioinformatic effort, the researchers finally confined the SCA mutation …

Identification of novel gene mutations that cause rare neurodegenerative and neuromuscular diseases Read More »