Identifying and understanding the molecular components implicated in the onset of multiple sclerosis is the main focus of our research. However, we are also actively involved in collaborations within UBC as well as national and international research institutions to identify the genetic components of essential tremor, Parkinson disease and Alzheimer disease.
Essential tremor (ET) is a nervous system disorder, and the most commonly diagnosed form of tremor. It is characterized by involuntary, rhythmic shaking affecting primarily the hands, but may extend to the upper limbs, head, torso among other regions. ET is a complex disorder triggered by a combination of genetic and environmental factors. ET can occur at any age but it is most commonly found in people age 40 and older. Although ET is not life-threatening, performing certain tasks and common daily activities becomes difficult. The symptoms often worsen over time and may be exacerbated by emotion, stress, fever, physical exhaustion, or low blood sugar. For additional information visit MedlinePlus.
Parkinson disease (PD) is a progressive neurodegenerative condition affecting more than 1% of the population at age 65 and increases to 4-5% by age 85. It is characterized by resting tremor, bradykinesia, rigidity and postural instability due to the loss of dopaminergic neurons. PD symptoms also include dysautonomia, depression, sensory loss and sleep disturbances, typically before the onset of tremor. To date, several genes with mutations causing familial PD, and genes containing genetic risk variants have been identified. Although these findings are important, familial forms only represent a small proportion of patients. There is no cure for PD, however some patients respond well to treatments that can temporarily reduce motor dysfunction. For more information go to MedlinePlus.
Alzheimer disease (AD) is a progressive neurodegenerative disease, and the most common etiology for dementia. The primary risk factor is age, with a lifetime risk of developing AD at 7% for the general population. Globally there are an estimated 27.8 million people living with AD, with a yearly incident increase of approximately 4.8 million. The main symptoms include short and long term memory loss, geographic disorientation, problems with word finding, poverty of speech and diminished abilities performing tasks. Similarly to ET and PD, genetic studies have lead to the identification of pathogenic mutations as well as genetic risk variants, but these only account for a small fraction of the factors causing disease. There is no cure for AD, and although drugs to slow the rate of cognitive decline exist, their benefit is usually small. For additional information go to MedlinePlus.