David Taylor, Directeur de la recherche chez SLA Canada a annoncé que Dr. Claire Leblond était la récipendaire de la Bourse Tim E. Noël pour la recherche sur la SLA. Dr. Leblond poursuit actuellement des études postdoctorales dans le laboratoire du Dr. Guy Rouleau à l’Institut neurologique de Montréal de l’Université McGill. Son projet s’intitule “Dépistage de mutation somatique dans la forme sporadique de sclérose latérale amyotrophique”. (communiqué de SLA Canada en anglais seulement)
We know that 5-10% of ALS cases are caused by an inherited genetic change (called mutations) that is passed down through a family from generation to generation. These are called germline mutations and they exist in either the sperm or the egg at conception, then are passed on (or not) to the entire offspring (all of their cells have the mutation). However, genetic changes can also occur spontaneously through various avenues after conception. These are called somatic mutations. Somatic mutations are not uncommon and can occur throughout our lifetime, anywhere in our body.
Dr. Leblond’s work will examine whether or not cases of sporadic ALS can be caused by somatic mutations that occur in key ALS genes (C9ORF72, SOD1, FUS, TARDBP/TDP-43) in an important ALS organ (spinal cord). To do this, she will be the first to utilize state-of-the-art techniques for examining a large collection of spinal cord tissue from individuals who had sporadic ALS in an effort to find disease causing somatic mutations. Moreover, Dr. Leblond will examine the areas of spinal cord that correspond to neurons from areas documented as site of symptom onset in each case (ie. if symptoms started in the right hand, that case would have the corresponding spinal cord area examined for mutation). Confirmation of this hypothesis would be significant and would indicate that sporadic ALS may be caused by an initial genetic change in specifically ALS-vulnerable gene and tissue followed by subsequent spread of disease.
Interestingly, Dr. Leblond was awarded the ALS Canada Research Forum Postdoc Poster Award by our Committee for a presentation of this work in 2013. She has now been successful for the project through the CIHR peer review process. Clearly this is an important study that will answer a key question about the potential origin of sporadic ALS in a manner that will be meaningful with either a positive or negative result.
Additionally, this is an example of how far ALS research has come in just the past several years. For decades we did not have the knowledge or tools to effectively tackle projects that look directly at the causes of sporadic ALS. In 2014, we can not only use our advanced knowledge of inherited disease to hopefully discover therapeutics that will correlate to those with sporadic ALS (as has long been the hope), but we can combine this knowledge with technological advancements to finally pursue the types of experiments we have long hoped to “someday” accomplish.
We look forward to learning the results of Dr. Leblond’s work as they emerge and are excited to have another reason why Canadian researchers are doing world class science as major contributors toward the global effort to slow progression of ALS.