Neurodegenerative disorders are a serious, growing public health concern, with global incidence expected to rise dramatically by 2030. A better understanding of the complex factors that give rise to these diseases is a crucial part of finding new ways to prevent, slow or stop disease progression, something no current treatment can do.
To this end, the Brás Lab investigates the genetic contributors to common forms of these diseases as well as rare/familial variants. Together with the Guerreiro Lab, they use cutting-edge genetic technologies, such as genome-wide genotyping arrays and next-generation sequencing, coupled with bioinformatics and data science approaches to identify genes and specific mutations that give rise to and propel these disorders.
Recently, they and their colleagues have identified several genetic risk factors for Alzheimer’s and Parkinson’s diseases. They also have pinpointed disease-causing genes in several familial forms of neurodegenerative disease, with one of the most significant being the identification of mutations in TREM2 as the cause of a frontotemporal dementia-like phenotype and as a strong risk factor for Alzheimer’s. Additionally, they lead an international consortium that aims to understand the genetic bases of dementia with Lewy bodies.