Posts tagged ‘Neurobiology’
McGill University Professor Michael Meaney has been selected as the 2014 Klaus J. Jacobs Research Prize Laureate in recognition of his groundbreaking achievements in the biology of child development. A jury of experts selected Prof. Meaney, who is also Scientific Director at the Ludmer Centre for Neuroinformatics and Mental Health at the Douglas Mental Health University Institute, for this honor for his pioneering, cutting edge research on the biological mechanisms by which parental behaviour affects brain development and lifelong function.
Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative disorders, in two infants, ultimately leading to their early death. Although the teams’ investigations dealt with an infant, their discovery also has implications for understanding the causes of later-onset neurological diseases.
The RMND1 gene encodes a protein that is an important component of the machinery in mitochondria which generates the chemical energy that all cells need to function. Mutations in genes affecting mitochondrial function are common causes of neurological and neuromuscular disorders in adults and children. It is estimated that one newborn baby out of 5000 is at risk for developing one of these disorders. Mortality among such cases is very high.
“Mitochondria are becoming a focus of research because it’s clear they’re involved in neurodegenerative disorders in a fairly big way,” says Dr. Eric Shoubridge, an internationally recognized specialist on mitochondrial diseases at The Neuro and lead author of the paper published in The American Journal of Human Genetics. “For instance, we’re finding that dysfunctional mitochondria may be at the heart of adult-onset disorders like Parkinson’s and Alzheimer’s disease.”
Discovery of the mutations in the RMND1 gene involved using whole-exome sequencing at the McGill University and Genome Québec Innovation Centre. This technique allows all of the genes in the body that code for proteins to be sequenced and analyzed in a single experiment. At a cost of about $1000, whole-exome sequencing is much more economical than previous techniques in which lists of candidate genes had to be screened in the search for mutations. The technique is poised to change the face of genetic diagnosis, making testing more efficient and available.
“Parents who have had a child with a mitochondrial disorder and who are hesitating to have another child now have the possibility to know the cause of the disease. With genetic information, they have reproductive options like in vitro fertilization,” says Dr. Shoubridge. The discovery of the RMND1 gene’s role sheds light on disorders of mitochondrial energy metabolism, but therapies to alleviate or cure such disorders remain elusive. Dr. Shoubridge is hopeful that the discovery will encourage pharmaceutical interest. “Drug companies are starting to be interested in rare diseases and metabolic disorders like this. They’re picking some genes as potential drug candidates.”
Thanks to McGill University for this information.
Beauty is not in the eye of the beholder, it’s in the medial orbito-frontal cortex
As humans face increasing distractions in their personal and professional lives, University of British Columbia researchers have discovered that people can gain greater control over their thoughts with real-time brain feedback.
The study is the world’s first investigation of how real-time functional Magnetic Resonance Imaging (fMRI) feedback from the brain region responsible for higher-order thoughts, including introspection, affects our ability to control these thoughts. The researchers find that real-time brain feedback significantly improves people’s ability to control their thoughts and effectively ‘train their brains.’
“Just like athletes in training benefit from a coach’s guidance, feedback from our brain can help us to be more aware of our thoughts,” says co-author Prof. Kalina Christoff, UBC Dept. of Psychology. “Our findings suggest that the ability to control our thinking improves when we know how the corresponding area in our brain is behaving.”
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The Canadian Biotechnologist would like to wish a congratulations to Dr. John Roder for recently being elected a fellow of the Royal Society of Canada. Dr. Roder is a professor of neurobiology in the department of Molecular Genetics at the University of Toronto and the Canada Research Chair (Tier 1) in Learning and Memory.The Roder lab focuses on the steps of the complex cascade of events that lead to long term potentiation in neurological and psychiatric disease.
A quick pubmed search reveals that Dr. Roder has 199 publications attributed to his name (8 so far this year) many of which have been published in high impact journals such as Neuron and JBC. His most recent publication which appeared in JBC in August 2010 revealed missense mutations in the voltage-gated potassium channel Kcna2 which may be important molecular correlates underlying human cerebellar ataxic disease.
Dr. Roder’s lab is also heavily engaged in identifying the role of the disrupted-in-schizophrenia-1 (DISC1) gene as a strong genetic risk factor associated with schizophrenia. In another recent publication (published 6 days earlier), Roder’s lab demonstrated genetic, biochemical, and behavioral evidence for a molecular link between DISC1 and GSK-3 in relation to psychopathology and highlights the value of missense mutations in dissecting the underlying and complex molecular mechanisms of neurological disorders.
The Royal Society of Canada is devoted to recognizing excellence in learning and research, as well as recognizing accomplishments in the arts, humanities and sciences. The Society consists of approximately 1,800 Fellows who are selected by their peers on account of their outstanding contributions to the arts and sciences. Election to Fellowship in the Society is the highest academic accolade available to scientists and scholars in Canada. After their induction in the Society, Fellows may use the postnomial FRSC for Fellow of the Royal Society of Canada. (source Wikipedia)