Dr. Farrer's primary research focus is the molecular genetics and functional modeling of movement disorders, with a focus on common age-related neurodegenerative disorders including Parkinson's disease and Lewy body dementia. He directs the Division of Neurogenetics, and several of the Neurogenetic Laboratories at Mayo Clinic Jacksonville. His research is funded through many agencies including a Morris K. Udall Center for Excellence in the Genetics of Parkinson's disease (NINDS NS40256), the National Institute of Aging (NIA AG17216), the Pacific Alzheimer's Research Foundation and the Michael J. Fox Foundation. Research collaborations presently include the Departments of Neurology/Neuroscience in more than 20 countries, spanning five Continents. Genetic studies include genetic testing of all known genes for parkinsonism, prior to genome-wide linkage analysis of larger pedigrees, in the hunt for novel genes and pathogenic mutations (see Farrer, Nat. Rev. Genet., April 2006). The Neurogenetic Laboratories have staff with experience in statistical and molecular genetics, bioinformatics, protein biochemistry and functional neuroscience, especially in the creation and characterization of BAC/PAC transgenic mouse models.

Dr Farrer's work in pedigree-based genetics has lead to the discovery of multiplications in the alpha-synuclein gene, which demonstrated a direct 'dosage' relationship between alpha-synuclein copy nymber, expression and the age of onset and severity of Lewy body parkinsonism. More recently, his group contributed to the identification of leucine-rich repeat kinase 2 (Lrrk2), specifically identifying G2019S and G2385R mutations, that have become the commonest known genetic cause of Parkinson's diease. Functional studies in transgenic mice are now being pursued to identify the role of alpha-synuclein and Lrrk2 in parkinsonism, specifically to develop therapeutic interventions to halt and/or prevent Lewy body Parkinson's disease.

The mission of the Neurogenetic Division, in the Department of Neuroscience at Mayo Jacksonville, is to accelerate the development of novel therapeutics for patients with neurologic disease. Neurogenetic methods may now refine patient diagnosis, identify biomarkers of early and progressive disease, nominate 'druggable' targets, establish functional assays for drug development as well as the in vivo models on which to test them. The Neurogenetics Laboratories conceptualize the themes of 'Individualized Medicine' and 'Bench-to-Bedside' with a working illustration, and represent translational neuroscience in practice. The Department of Neuroscience also has neurogenetic programs which employ a similar approach working on Alzheimer's disease, frontotemporal lobe dementia, amyotrophic lateral sclerosis and restless legs syndrome.

Mayo Clinic Distiguished Investigator

Read a conversation with Matthew Farrer, Ph.D.
Unraveling the genetic mysteries of Parkinson's disease