De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
This week we profile a recent publication in the American Journal of Human Genetics
from the laboratory of Dr. Matthew Farrer (pictured) at the Centre for Applied Neurogenetics
Can you provide a brief overview of your lab’s current research focus?
The focus of the lab is ‘applied neurogenetics’. One aspect is making recent advances in human genome sequencing technology accessible to patients and physicians. Genetic information can help doctors’ better manage patient symptoms, often more quickly and accurately than the current standard of care. It’s important as earlier, effective treatments affects outcomes; in seizure disorders such intervention can make the difference between neurodegeneration or normal development.
What is the significance of the findings in this publication?
These gene mutations are the latest discovered in epilepsy, and enable a much faster more accurate diagnosis in children and their families. In general, the results provide critical information to neurologists on how to best to treat these patients, and before it’s too late. For the Province and its health economy, the results mean a stop to further testing and the costs associated with it.
What are the next steps for this research?
Precision medicine. Knowing the underlying molecular cause of disease allows us to model it, for example in cultured neurons, and will allow us to identify potent new medications. We’re also working with neurologists and health care professionals, more broadly, to launch web-based tools to: 1) accelerate similar discoveries and; 2) provide clinical decision support in many other neurologic diseases.
This research was funded by:
Special thanks goes to the Alva Foundation who helped support our team and this epilepsy research. Special thanks to the families too, that have helped us make these discoveries, these advances, possible.
Click here for a related paper from the Farrer lab published in the American Journal of Human Genetics.