Advances in genetic sequencing and genomics in the detection and analyses of genetic variants in neurological disorders: A review

  • James Cairns University of British Columbia


With recent advances in genetics and genomic sequencing, it has become possible to screen for genetic variants and polymorphisms in the human genome that contribute to heritable and familial forms of neurological diseases. With an increasing proportion of the population aged 55 years and older, there will be an increased incidence of neurological disorders such as Alzheimer’s disease (AD) and Parkinson’s disease (PD), which will place an increasing burden on our healthcare system and an increasing need for resources and expertise to treat and manage these diseases. This review will highlight recent advances in genetic sequencing and genomics that have allowed for improved detection and diagnosis of AD, PD and Multiple Sclerosis (MS). Alzheimer’s disease is the leading cause of dementia in seniors and is characterized by cognitive decline, memory loss and impairment in the formation of new memories. Parkinson’s disease is an extrapyramidal movement disorder characterized by resting tremor, muscular rigidity, bradykinesia, hypokinesia and postural instability. Multiple sclerosis is a chronic inflammatory and demyelinating disease of the CNS characterized by motor symptoms, cognitive impairments, fatigue, muscle weakness and autonomic dysfunction and is the most common neurological disorder in young adults. Finally, this article will address some considerations when integrating genetic sequencing and testing into the current diagnosis and management of neurological diseases.