In recent years there have been major breakthroughs in the identification of novel molecular and cellular mechanisms underlying the pathophysiology of brain disorders. For instance, thanks to state-of-the-art molecular techniques, current stem cell research not only allows in-vitro recapitulation of disease expression, but also for the discovery of novel disease-associated cellular mechanisms.
Likewise, the field of genetics for movement disorders is growing tremendously from the identification of a large number of disease-associated genes through the application of next-generation sequencing technologies, such as whole exome sequencing and whole genome sequencing. These technologies enable a complete scan resolution of the entire exome (the part of the genome that contains the sequences of DNA that are translated into proteins, the genes) or genome (all of an individual’s hereditary information, including both genes and non-coding DNA sequences). Such information provides us with knowledge of an individual’s genetic variability within weeks. Subsequently, the disease-associated DNA sequences are understood through a comparison of the genetic variants present in patients against those present in healthy individuals. Detailed clinical information and a thorough work-up of families with movement disorders carried out by Mount Sinai’s worldwide-recognized physicians, who are experts in movement disorders research, provide the basis to perform the required genetic approaches for disease gene identification.
The identification of genetic events underlying, or contributing to, the development of movement disorders has demonstrated its success in the discovery of underlying pathologic processes and has helped researchers to understand both disease manifestations and progression. However, moving from single genes to interacting signaling and mechanistic pathways requires a better understanding of the functions of our genome and brain in both health and disease. Therefore, the ability to integrate data across a wide range of disciplines is especially important in the future of brain disorder research. At Icahn School of Medicine at Mount Sinai, world-class researchers and clinicians are brought together to address relevant projects occurring within the institution from different perspectives and disciplines. Collaboration among scientists and clinicians will enhance our understanding of the overall pathophysiology associated with movement disorders. In turn, such an understanding will facilitate the development of improved diagnostic tests and treatments, ultimately optimizing human health and reducing health care costs.
Coro Paisan-Ruiz, MD
Dr. Paisán-Ruiz is a human geneticist whose current research focuses on the understanding of the molecular and cellular mechanisms underlying neurodegeneration. She has an academic appointment as Assistant Professor of Neurology, Psychiatry, and Genetics and Genomics Sciences at Icahn School of Medicine at Mount Sinai.