Highlights from Research Breakthroughs in 2011:

A Landmark Year in the History of ALS Research

While advances in ALS research over the past 3 years have been outstanding, 2011 was a year of multiple exciting breakthroughs many are calling a true turning point for ALS research worldwide. These new findings build on steady advances in fields as diverse as biomarkers(substances which indicate a biological state); the extraction and use of stem cells to potentially restore function; advanced imaging techniques; the role of environmental toxins and genetic sensitivities; and complex cell biology. With these new 2011 findings, we have many more pieces of the puzzle – pieces with the potential to enable earlier detection, faster halting of symptoms, better drugs and treatments and – with more investigation – the possibility of partially restoring damaged neural pathways.

ALS Canada salutes these global pathbreakers. As you will see, many of them are Canadian – a testimony to the community of outstanding supporters and donors in Canada who are making this country an international hub of innovation and excellence worldwide. Here is a summary of some of the most exciting research results of 2011:

July 2011 – Dr. Sanjay Kalra, University of Alberta

Dr. Sanjay Kalra from U of A’s Faculty of Medicine and Dentistry released two studies that used advanced imaging to show that ALS attacks multiple parts of the brain and is not limited, as previously assumed, to the motor system. Kalra used MRI scans to detect chemical changes that indicate specifically which neurons are not working or have died – a landmark breakthrough in our ability to identify the locus, onset, and ontology of the disease. These advances have significant potential to track ALS and its progression, enabling development of more targeted treatments to slow or prevent the disease in those parts of the brain which are affected beyond the motor system.

September 2011 – Dr. Rosa Rademakers, Mayo Clinic Jacksonville

A team led by Dr. Rosa Rademakers identified the most common genetic cause known to date for ALS and frontotemporal dementia. Results show that a mutation of a single gene, called C9ORF72, accounts for nearly 50 per cent of the directly inherited familial ALS and Fronto temporal Dementia (FTD) in the Finnish population, and more than a third of familial ALS in other groups of European ancestry. Further studies by other groups have found mutations in this gene in individuals with sporadic (ie: non-hereditary) ALS. Identifying this defective gene provides important insights into the complex interplay between genetic risk for the disorder and other factors which contribute to disease onset and progression. These insights pave the way for a better understanding of ALS and FTD biology and the therapeutics that can be developed to counteract it. UBC’s Dr. Ian MacKenzie was a key Canadian contributor to the study.

September 2011 – Dr. Neil Cashman – University of British Columbia

In healthy individuals, special enzymes protect cells from dangerous free radicals. But malformed enzymes, such as those found in ALS, may have the opposite effect, in essence initiating damage rather than protecting against attack by dangerous free radicals, in a twisted game of molecular tag. Neil Cashman and colleagues at the University of British Columbia reported in 2011 on their use of a truncated enzyme and special antibodies to analyze the folding and misfolding of a key protein. The goal is to create new proteins with a special binding capacity to act as a “sticky patch” where “bad” enzymes can attach and be removed from the system. With further development, these proteins have the potential to block unhealthy interactions, thereby stopping disease progression in its tracks.

November 2011: Dr. Jean-Pierre Julien, Universite Laval

ALS is characterized by a degeneration of neurons that control muscle activity. By studying the spinal cords of people who died from ALS, Dr. Julien’s team discovered an overproduction of a protein called TDP-43 in their nerve tissues. This protein can play a key role: when it is “overexpressed”, it exaggerates the inflammatory response that increases the vulnerability of nerve cells to toxic molecules that circulate in the body. The team is testing an inhibitor that could lead to the development of drugs to reduce this inflammation and partially restore the neuromuscular function.

These are just a few of the most recent breakthroughs. For more on Canadian ALS research, go to:
http://www.als.ca/sites/default/files/files/ALS%20Canada%20Research%20Funding(1).pdf