Matthew Farrer, PhD
Lauren And Lee Fixel Chair, Professor Of Neurology, Director Of Clinical Genomics Program At UF Clinical And Translational Science Institute
Department:
MD-NEUROLOGY-MOVEMENT DISORDER
Business Phone:
(352) 273-5611
Business Email:
m.farrer@ufl.edu
About Matthew Farrer
Dr. Matt Farrer, is critically acclaimed for his work in the genetics and neuroscience of Parkinson’s disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary’s Hospital Medical School, UK. He completed a Fellowship in Medical Genetics at the Kennedy-Galton Centre, UK, and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000, where he opened his first laboratory to predict and prevent Parkinson’s disease. Dr. Farrer became a tenured Professor in 2006, a Mayo Consultant and subsequently a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada. He came a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine and his team had many notable accomplishments, including several new genes and mouse models for Parkinson’s disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia, and was a first for Canada.
In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine’s Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.
Accomplishments
9th Donald Calne Lectureship
2012
·
Parkinson Society Canada
Pritzker Prize Nomination
2011
·
Michael J. Fox Foundation
Health Care Hero
2009
·
Jacksonville Business Journal
Distinguished Investigator Award
2008
·
May Clinic, Jacksonville, FL
Health Care Hero
2005
·
Jacksonville Business Journal
Teaching Profile
Courses Taught
2020
GMS7794 Neuroscience Seminar
2021-2024
GMS6012 Human Genetics
2022-2024
GMS7980 Research for Doctoral Dissertation
Research Profile
My long term career objective has been to provide molecular targets, develop tools and characterize models to encourage greater pharmaceutical investment in disease-modifying therapeutics aimed at neuroprotection (‘precision medicine’). I have long had an interest in dementia, from my PhD dissertation was on ‘The genetics of age-associated cognitive dysfunction in Down syndrome’, including the role of APOE, to linkage analysis implicating increased alpha-synuclein gene dosage as the cause of Lewy body parkinsonism-dementia, to comparative high-throughput sequencing in families and populations to identify the genetic contribution to neurodegenerative trait components. I have used genetic insights to better understand genotype-phenotype correlations in man and in mouse models, with cre-loxP methods and brain slice biochemistry and physiology. In recent years I built and directed the Centre for Applied Neurogenetics and Translational Neuroscience at the University of British Columbia, and founded Neurocode Labs Inc., the only company in Canada that is clinically-accredited in medical genetics to return results from whole exome sequencing, primarily in the context of pediatric seizure disorders. As part of both endeavors, integrating genetic information, bioinformatics and web-development, my team created NeuroSeq (www.neuroseq.ca), a genome browser to enable sharing and global collaboration between neurologists and academic researchers. This proposal is a community-based effort focused on brain health and neuroprotection that aims to understand what it will take to deliver genetic information to the public. We aim to lower the risk of cognitive decline and dementia, in an underserved and socioeconomically disadvantaged sample from the population of Florida, in a meaningful and ethically-responsible fashion. It is a pilot application to improve population health, methodologically simplistic but nonetheless challenging in that it aims to modify individual behavior to lower the overall risk and incidence of Alzheimer’s disease.
Open Researcher and Contributor ID (ORCID)
0000-0003-1159-5321
Publications
2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson’s disease and activates LRRK2 kinase.
medRxiv : the preprint server for health sciences.
[DOI] 10.1101/2024.01.17.24300927.
[PMID] 38293014.
2024
Association of Body Mass Index and Parkinson Disease
Neurology.
103(3)
[DOI] 10.1212/wnl.0000000000209620.
2024
Characterization of Dnajc12 knockout mice, a model of hypodopaminergia.
bioRxiv : the preprint server for biology.
[DOI] 10.1101/2024.07.06.602343.
[PMID] 39026821.
2024
DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration
Movement Disorders.
39(2):249-258
[DOI] 10.1002/mds.29677.
2024
Genetic Modifiers of LRRK2 Parkinson’s Disease: A Replication Study in Arab-Berbers.
Movement disorders : official journal of the Movement Disorder Society.
39(4):751-753
[DOI] 10.1002/mds.29735.
[PMID] 38291980.
2024
Genome-wide association study of copy number variations in Parkinson’s disease.
medRxiv : the preprint server for health sciences.
[DOI] 10.1101/2024.08.21.24311915.
[PMID] 39228715.
2024
Genome-wide determinants of mortality and motor progression in Parkinson’s disease
npj Parkinson's Disease.
10(1)
[DOI] 10.1038/s41531-024-00729-8.
[PMID] 38849413.
2024
Immunophenotyping Tracks Motor Progression in Parkinson’s Disease Associated with a TH Mutation.
Journal of Parkinson's disease.
14(4):883-888
[DOI] 10.3233/JPD-240030.
[PMID] 38788089.
2024
RAB32 Ser71Arg in autosomal dominant Parkinson’s disease: linkage, association, and functional analyses.
The Lancet. Neurology.
23(6):603-614
[DOI] 10.1016/S1474-4422(24)00121-2.
[PMID] 38614108.
2024
The Evolution of Genetic Variability at the LRRK2 Locus
Genes.
15(7)
[DOI] 10.3390/genes15070878.
[PMID] 39062657.
2023
Assess the documentation of cognitive tests and biomarkers in electronic health records via natural language processing for Alzheimer’s disease and related dementias.
International journal of medical informatics.
170
[DOI] 10.1016/j.ijmedinf.2022.104973.
[PMID] 36577203.
2023
Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease.
NPJ Parkinson's disease.
9(1)
[DOI] 10.1038/s41531-023-00535-8.
[PMID] 37443150.
2023
Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort.
Movement disorders : official journal of the Movement Disorder Society.
38(2):286-303
[DOI] 10.1002/mds.29288.
[PMID] 36692014.
2023
Experimental procedures for flow cytometry of wild-type mouse brain: a systematic review.
Frontiers in immunology.
14
[DOI] 10.3389/fimmu.2023.1281705.
[PMID] 38022545.
2023
GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters.
BMC genomics.
24(1)
[DOI] 10.1186/s12864-023-09417-y.
[PMID] 37312046.
2023
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
medRxiv : the preprint server for health sciences.
[DOI] 10.1101/2023.05.02.23289328.
[PMID] 37425910.
2023
Inhibition of LRRK2 kinase activity rescues deficits in striatal dopamine physiology in VPS35 p.D620N knock-in mice
npj Parkinson's Disease.
9(1)
[DOI] 10.1038/s41531-023-00609-7.
[PMID] 38110354.
2023
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society.
38(10):1837-1849
[DOI] 10.1002/mds.29563.
[PMID] 37482924.
2023
Investigation of Shared Genetic Risk Factors Between Parkinson’s Disease and Cancers.
Movement disorders : official journal of the Movement Disorder Society.
38(4):604-615
[DOI] 10.1002/mds.29337.
[PMID] 36788297.
2023
LRRK2 negatively regulates glucose tolerance via regulation of membrane translocation of GLUT4 in adipocytes.
FEBS open bio.
13(12):2200-2214
[DOI] 10.1002/2211-5463.13717.
[PMID] 37845194.
2022
Autonomic dysfunction in Parkinson’s disease: Results from the Faroese Parkinson’s disease cohort.
Neuroscience letters.
785
[DOI] 10.1016/j.neulet.2022.136789.
[PMID] 35835395.
2022
Dairy Intake and Parkinson’s Disease: A Mendelian Randomization Study.
Movement disorders : official journal of the Movement Disorder Society.
37(4):857-864
[DOI] 10.1002/mds.28902.
[PMID] 34997937.
2022
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease
Neurology.
99(7)
[DOI] 10.1212/wnl.0000000000200699.
2022
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease.
Journal of Parkinson's disease.
12(1):267-282
[DOI] 10.3233/JPD-212851.
[PMID] 34633332.
2022
Obituary for Jan O. Aasly (1950-2022)
Movement Disorders.
1783-1784
[DOI] 10.1002/mds.29198.
[PMID] 36004440.
2022
Polygenic risk of Alzheimer’s disease in the Faroe Islands.
European journal of neurology.
29(8):2192-2200
[DOI] 10.1111/ene.15351.
[PMID] 35384166.
2022
The Interaction between HLA-DRB1 and Smoking in Parkinson’s Disease Revisited.
Movement disorders : official journal of the Movement Disorder Society.
37(9):1929-1937
[DOI] 10.1002/mds.29133.
[PMID] 35810454.
2021
Chronic and Acute Manipulation of Cortical Glutamate Transmission Induces Structural and Synaptic Changes in Co-cultured Striatal Neurons.
Frontiers in cellular neuroscience.
15
[DOI] 10.3389/fncel.2021.569031.
[PMID] 33679324.
2021
Dynamic control of the dopamine transporter in neurotransmission and homeostasis.
NPJ Parkinson's disease.
7(1)
[DOI] 10.1038/s41531-021-00161-2.
[PMID] 33674612.
2021
Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson’s Disease.
Frontiers in neurology.
12
[DOI] 10.3389/fneur.2021.648417.
[PMID] 33889126.
2021
Erratum to: Reply: UQCRC1 variants in Parkinson’s disease: a large cohort study in Chinese mainland population.
Brain : a journal of neurology.
144(9)
[DOI] 10.1093/brain/awab228.
[PMID] 34279032.
2021
Genomewide Association Studies of LRRK2 Modifiers of Parkinson’s Disease.
Annals of neurology.
90(1):76-88
[DOI] 10.1002/ana.26094.
[PMID] 33938021.
2021
LRRK2; a dynamic regulator of cellular trafficking.
Brain research.
1761
[DOI] 10.1016/j.brainres.2021.147394.
[PMID] 33662339.
2021
Reply: UQCRC1 variants in Parkinson’s disease: a large cohort study in Chinese mainland population.
Brain : a journal of neurology.
144(6)
[DOI] 10.1093/brain/awab138.
[PMID] 33779722.
2021
The Gut-Brain Axis and Its Relation to Parkinson’s Disease: A Review.
Frontiers in aging neuroscience.
13
[DOI] 10.3389/fnagi.2021.782082.
[PMID] 35069178.
2020
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors.
Movement disorders : official journal of the Movement Disorder Society.
35(10):1854-1858
[DOI] 10.1002/mds.28238.
[PMID] 32875616.
2020
An in vitro bioengineered model of the human arterial neurovascular unit to study neurodegenerative diseases.
Molecular neurodegeneration.
15(1)
[DOI] 10.1186/s13024-020-00418-z.
[PMID] 33213497.
2020
Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Molecular brain.
13(1)
[DOI] 10.1186/s13041-020-00593-6.
[PMID] 32220239.
2020
Disease modification and biomarker development in Parkinson disease
Neurology.
94(11):481-494
[DOI] 10.1212/wnl.0000000000009107.
2020
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Brain : a journal of neurology.
143(11):3352-3373
[DOI] 10.1093/brain/awaa279.
[PMID] 33141179.
2020
Neuron-autonomous susceptibility to induced synuclein aggregation is exacerbated by endogenous Lrrk2 mutations and ameliorated by Lrrk2 genetic knock-out.
Brain communications.
2(1)
[DOI] 10.1093/braincomms/fcz052.
[PMID] 32510053.
2020
Parkinson disease risk variants in East Asian populations.
Nature reviews. Neurology.
16(9):461-462
[DOI] 10.1038/s41582-020-0379-6.
[PMID] 32572178.
2020
Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease.
Brain : a journal of neurology.
143(4):1190-1205
[DOI] 10.1093/brain/awaa064.
[PMID] 32201884.
2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology.
10
[DOI] 10.3389/fneur.2019.00434.
[PMID] 31164858.
2019
DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.
Neuroscience letters.
706:114-122
[DOI] 10.1016/j.neulet.2019.04.043.
[PMID] 31082451.
2019
Doubts about TMEM230 as a gene for parkinsonism
Nature Genetics.
51(3):367-368
[DOI] 10.1038/s41588-019-0354-6.
2019
Endosomal trafficking leads the way in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
34(4):443-445
[DOI] 10.1002/mds.27647.
[PMID] 30812061.
2019
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
Muscle & nerve.
60(3):311-314
[DOI] 10.1002/mus.26622.
[PMID] 31241196.
2019
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.
Annals of neurology.
86(2):324-326
[DOI] 10.1002/ana.25510.
[PMID] 31148195.
2019
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Molecular brain.
12(1)
[DOI] 10.1186/s13041-019-0513-9.
[PMID] 31707987.
2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
European journal of pediatrics.
178(8):1207-1218
[DOI] 10.1007/s00431-019-03399-4.
[PMID] 31172278.
2019
Single Inflammatory Trigger Leads to Neuroinflammation in LRRK2 Rodent Model without Degeneration of Dopaminergic Neurons.
Journal of Parkinson's disease.
9(1):121-139
[DOI] 10.3233/JPD-181446.
[PMID] 30452424.
2019
Using global team science to identify genetic parkinson’s disease worldwide.
Annals of neurology.
86(2):153-157
[DOI] 10.1002/ana.25514.
[PMID] 31155756.
2019
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
The journals of gerontology. Series A, Biological sciences and medical sciences.
74(9):1386-1390
[DOI] 10.1093/gerona/gly098.
[PMID] 29750252.
2018
A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin.
Case reports in neurological medicine.
2018
[DOI] 10.1155/2018/6838965.
[PMID] 30050705.
2018
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.
Frontiers in neurology.
9
[DOI] 10.3389/fneur.2018.01021.
[PMID] 30619023.
2018
Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.
Autophagy.
14(8):1404-1418
[DOI] 10.1080/15548627.2018.1461294.
[PMID] 29947276.
2018
Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice
npj Parkinson's Disease.
4(1)
[DOI] 10.1038/s41531-018-0063-3.
[PMID] 30155515.
2018
Assessing an Interactive Online Tool to Support Parents’ Genomic Testing Decisions.
Journal of genetic counseling.
[DOI] 10.1007/s10897-018-0281-1.
[PMID] 30033481.
2018
Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson’s disease.
Parkinsonism & related disorders.
47:39-44
[DOI] 10.1016/j.parkreldis.2017.11.339.
[PMID] 29191473.
2018
Establishing diagnostic criteria for Perry syndrome.
Journal of neurology, neurosurgery, and psychiatry.
89(5):482-487
[DOI] 10.1136/jnnp-2017-316864.
[PMID] 29089398.
2018
Pipeline to gene discovery – Analysing familial Parkinsonism in the Queensland Parkinson’s Project.
Parkinsonism & related disorders.
49:34-41
[DOI] 10.1016/j.parkreldis.2017.12.033.
[PMID] 29329938.
2018
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
Journal of movement disorders.
11(1):45-48
[DOI] 10.14802/jmd.17066.
[PMID] 29316780.
2018
The emerging role of Rab GTPases in the pathogenesis of Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
33(2):196-207
[DOI] 10.1002/mds.27270.
[PMID] 29315801.
2017
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Pediatric neurology.
75:87-90
[DOI] 10.1016/j.pediatrneurol.2017.06.003.
[PMID] 28811059.
2017
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
American journal of human genetics.
101(2):300-310
[DOI] 10.1016/j.ajhg.2017.07.004.
[PMID] 28777935.
2017
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Annals of neurology.
82(4):640-646
[DOI] 10.1002/ana.25048.
[PMID] 28892570.
2017
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson’s disease: analysis of a large multicenter study.
Neurobiology of aging.
49:217.e1-217.e4
[DOI] 10.1016/j.neurobiolaging.2016.09.022.
[PMID] 27814993.
2017
Gender differences in Parkinson’s disease depression.
Parkinsonism & related disorders.
36:93-97
[DOI] 10.1016/j.parkreldis.2016.12.026.
[PMID] 28089265.
2017
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
Movement disorders clinical practice.
4(4):499-508
[DOI] 10.1002/mdc3.12501.
[PMID] 30363439.
2017
Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism.
Brain : a journal of neurology.
140(1):98-117
[DOI] 10.1093/brain/aww261.
[PMID] 27807026.
2017
Homozygous alpha-synuclein p.A53V in familial Parkinson’s disease.
Neurobiology of aging.
57:248.e7-248.e12
[DOI] 10.1016/j.neurobiolaging.2017.05.022.
[PMID] 28666710.
2017
Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice.
eLife.
6
[DOI] 10.7554/eLife.28377.
[PMID] 28930069.
2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics.
101(1):65-74
[DOI] 10.1016/j.ajhg.2017.05.016.
[PMID] 28669405.
2017
Neurobehavioral characterization of adult-onset Alexander disease: A family study.
Neurology. Clinical practice.
7(5):425-429
[DOI] 10.1212/CPJ.0000000000000356.
[PMID] 29620072.
2017
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Brain : a journal of neurology.
140(6)
[DOI] 10.1093/brain/awx077.
[PMID] 28379295.
2017
SCA2 family presenting as typical Parkinson’s disease: 34 year follow up.
Parkinsonism & related disorders.
40:69-72
[DOI] 10.1016/j.parkreldis.2017.04.003.
[PMID] 28462804.
2017
Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.
The Lancet. Neurology.
16(5):351-359
[DOI] 10.1016/S1474-4422(17)30056-X.
[PMID] 28336296.
2016
A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier.
Movement disorders : official journal of the Movement Disorder Society.
31(3):405-9
[DOI] 10.1002/mds.26450.
[PMID] 26685774.
2016
Conjugal parkinsonism – Clinical, pathology and genetic study. No evidence of person-to-person transmission.
Parkinsonism & related disorders.
31:87-90
[DOI] 10.1016/j.parkreldis.2016.07.011.
[PMID] 27481034.
2016
Conjugal parkinsonism is coincidental.
Parkinsonism & related disorders.
33:149-150
[DOI] 10.1016/j.parkreldis.2016.10.004.
[PMID] 27743700.
2016
DCTN1 p.K56R in progressive supranuclear palsy.
Parkinsonism & related disorders.
28:56-61
[DOI] 10.1016/j.parkreldis.2016.04.025.
[PMID] 27132499.
2016
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Neurology. Genetics.
2(6)
[PMID] 27872899.
2016
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
The Lancet. Neurology.
15(12):1248-1256
[DOI] 10.1016/S1474-4422(16)30203-4.
[PMID] 27692902.
2016
Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
31(3):423-5
[DOI] 10.1002/mds.26524.
[PMID] 26860075.
2016
Leucine-rich repeat kinase 2 (LRRK2) regulates α-synuclein clearance in microglia.
BMC neuroscience.
17(1)
[PMID] 27903237.
2016
Leucine-rich repeat kinase 2 is a regulator of B cell function, affecting homeostasis, BCR signaling, IgA production, and TI antigen responses.
Journal of neuroimmunology.
292:1-8
[DOI] 10.1016/j.jneuroim.2016.01.005.
[PMID] 26943952.
2016
Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3β activity.
Human molecular genetics.
25(10):1965-1978
[PMID] 26931464.
2016
Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers.
Neurology.
86(11):994-9
[DOI] 10.1212/WNL.0000000000002436.
[PMID] 26865512.
2016
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Annals of neurology.
79(6):991-9
[DOI] 10.1002/ana.24664.
[PMID] 27091628.
2015
[11C]PBR28 PET imaging is sensitive to neuroinflammation in the aged rat.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
35(8):1331-8
[DOI] 10.1038/jcbfm.2015.54.
[PMID] 25833342.
2015
Chronic and acute LRRK2 silencing has no long-term behavioral effects, whereas wild-type and mutant LRRK2 overexpression induce motor and cognitive deficits and altered regulation of dopamine release.
Parkinsonism & related disorders.
21(10):1156-63
[DOI] 10.1016/j.parkreldis.2015.07.025.
[PMID] 26282470.
2015
Defining neurodegeneration on Guam by targeted genomic sequencing.
Annals of neurology.
77(3):458-68
[DOI] 10.1002/ana.24346.
[PMID] 25558820.
2015
DNAJC13 genetic variants in parkinsonism.
Movement disorders : official journal of the Movement Disorder Society.
30(2):273-8
[DOI] 10.1002/mds.26064.
[PMID] 25393719.
2015
DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients.
European journal of neurology.
22(9):1323-5
[DOI] 10.1111/ene.12770.
[PMID] 26278106.
2015
Familial aggregation of Parkinson’s disease in the Faroe Islands.
Movement disorders : official journal of the Movement Disorder Society.
30(4):538-44
[DOI] 10.1002/mds.26132.
[PMID] 25600277.
2015
Genetic variability of the retromer cargo recognition complex in parkinsonism.
Movement disorders : official journal of the Movement Disorder Society.
30(4):580-4
[DOI] 10.1002/mds.26104.
[PMID] 25475142.
2015
Head injury, α-synuclein genetic variability and Parkinson’s disease.
European journal of neurology.
22(5):874-8
[DOI] 10.1111/ene.12585.
[PMID] 25370538.
2015
Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson’s disease.
The Lancet. Neurology.
14(10):1054-64
[DOI] 10.1016/S1474-4422(15)00186-6.
[PMID] 26376970.
2015
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Neurology.
85(15):1283-92
[DOI] 10.1212/WNL.0000000000002016.
[PMID] 26354989.
2015
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2002
Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
17(6):1305-11
[PMID] 12465073.
2002
Case-control study of estrogen receptor gene polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
17(3):509-12
[PMID] 12112198.
2002
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
Movement disorders : official journal of the Movement Disorder Society.
17(4):670-5
[PMID] 12210855.
2002
Complex relationship between Parkin mutations and Parkinson disease.
American journal of medical genetics.
114(5):584-91
[PMID] 12116199.
2002
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Movement disorders : official journal of the Movement Disorder Society.
17(5):1068-71
[PMID] 12360561.
2002
Functional association of the parkin gene promoter with idiopathic Parkinson’s disease.
Human molecular genetics.
11(22):2787-92
[PMID] 12374768.
2002
Identifying genetic factors in Parkinson disease.
JAMA.
287(6):715-6
[PMID] 11851532.
2002
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons.
Neuron.
36(6):1007-19
[PMID] 12495618.
2002
Parkinson’s genetics: an embarrassment of riches.
Annals of neurology.
51(1):7-8
[PMID] 11782975.
2002
Parkinson’s genetics: molecular insights for the new millennium.
Neurotoxicology.
23(4-5):503-14
[PMID] 12428722.
2002
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
Neurology.
59(10):1625-7
[PMID] 12451209.
2002
Tau neurotoxicity without the lesions: a fly challenges a tangled web.
Trends in neurosciences.
25(7):327-9
[PMID] 12079751.
2002
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.
Gene.
285(1-2):229-37
[PMID] 12039050.
2002
The tau H1 haplotype is associated with Parkinson’s disease in the Norwegian population.
Neuroscience letters.
322(2):83-6
[PMID] 11958849.
2002
Two large British kindreds with familial Parkinson’s disease: a clinico-pathological and genetic study.
Brain : a journal of neurology.
125(Pt 1):44-57
[PMID] 11834592.
2001
alpha-Synuclein gene haplotypes are associated with Parkinson’s disease.
Human molecular genetics.
10(17):1847-51
[PMID] 11532993.
2001
Case-Control study of the extended tau gene haplotype in Parkinson’s disease.
Annals of neurology.
50(5):658-61
[PMID] 11706972.
2001
Genetic analysis of synphilin-1 in familial Parkinson’s disease.
Neurobiology of disease.
8(2):317-23
[PMID] 11300726.
2001
Identification and characterization of the human parkin gene promoter.
Journal of neurochemistry.
78(5):1146-52
[PMID] 11553688.
2001
Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter.
Neurobiology of disease.
8(3):535-9
[PMID] 11442360.
2001
Lewy bodies and parkinsonism in families with parkin mutations.
Annals of neurology.
50(3):293-300
[PMID] 11558785.
2001
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
American journal of human genetics.
68(3):617-26
[PMID] 11179010.
2001
Pathology of PD in monozygotic twins with a 20-year discordance interval.
Neurology.
56(7):981-2
[PMID] 11294946.
2001
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.
European journal of human genetics : EJHG.
9(9):659-66
[PMID] 11571553.
2001
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.
Archives of neurology.
58(2):296-9
[PMID] 11176969.
2001
Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells.
Brain research. Molecular brain research.
97(1):94-102
[PMID] 11744167.
2000
A kindred with Parkinson’s disease not showing genetic linkage to established loci.
Neurology.
54(2):504-7
[PMID] 10668726.
2000
Case-control study of debrisoquine 4-hydroxylase, N-acetyltransferase 2, and apolipoprotein E gene polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society.
15(4):714-9
[PMID] 10928584.
2000
Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.
Acta neuropathologica.
99(6):663-72
[PMID] 10867800.
2000
Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
Human genetics.
107(5):476-82
[PMID] 11140945.
2000
Linkage exclusion in French families with probable Parkinson’ s disease.
Movement disorders : official journal of the Movement Disorder Society.
15(6):1075-83
[PMID] 11104189.
2000
Sensitization of neuronal cells to oxidative stress with mutated human alpha-synuclein.
Journal of neurochemistry.
75(6):2546-54
[PMID] 11080208.
2000
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
Neurology.
55(6):800-5
[PMID] 10993999.
1999
A chromosome 4p haplotype segregating with Parkinson’s disease and postural tremor.
Human molecular genetics.
8(1):81-5
[PMID] 9887334.
1999
alpha-Synuclein shares physical and functional homology with 14-3-3 proteins.
The Journal of neuroscience : the official journal of the Society for Neuroscience.
19(14):5782-91
[PMID] 10407019.
1999
Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson’s disease.
Neurology.
53(8):1858-60
[PMID] 10563640.
1999
High apolipoprotein AI concentrations are associated with lower mortality and myocardial infarction five years after coronary artery bypass graft surgery.
Heart (British Cardiac Society).
81(5):488-94
[PMID] 10212166.
1999
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson’s disease.
Neuroreport.
10(2):427-9
[PMID] 10203348.
1999
No pathogenic mutations in the beta-synuclein gene in Parkinson’s disease.
Neuroscience letters.
269(2):107-9
[PMID] 10430516.
1999
No pathogenic mutations in the persyn gene in Parkinson’s disease.
Neuroscience letters.
259(1):65-6
[PMID] 10027558.
1999
The genetics of disorders with synuclein pathology and parkinsonism.
Human molecular genetics.
8(10):1901-5
[PMID] 10469843.
1999
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson’s disease.
Neuroscience letters.
270(1):1-4
[PMID] 10454131.
1999
Widespread alterations of alpha-synuclein in multiple system atrophy.
The American journal of pathology.
155(4):1241-51
[PMID] 10514406.
1998
A variant of Alzheimer’s disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.
Nature medicine.
4(4):452-5
[PMID] 9546792.
1998
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism.
American journal of medical genetics.
81(2):166-71
[PMID] 9613857.
1998
Low frequency of alpha-synuclein mutations in familial Parkinson’s disease.
Annals of neurology.
43(3):394-7
[PMID] 9506559.
1998
Molecular mapping of Alzheimer-type dementia in Down’s syndrome.
Annals of neurology.
43(3):380-3
[PMID] 9506555.
1998
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson’s disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson’s Disease (GSPD).
Human molecular genetics.
7(4):751-3
[PMID] 9499430.
1997
Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome.
Neuroreport.
8(7):1645-9
[PMID] 9189907.
1997
Genetics of Parkinson’s disease.
Science (New York, N.Y.).
278(5341):1212-3
[PMID] 9411743.
1997
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.
Annals of neurology.
42(5):794-8
[PMID] 9392579.
1995
Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down’s syndrome).
Annals of human genetics.
59(3):253-69
[PMID] 7486833.
1994
The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21.
Annals of human genetics.
58(1):25-34
[PMID] 8031013.
1994
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.
Human genetics.
93(4):443-6
[PMID] 7909528.
1993
Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.
American journal of human genetics.
53(2):462-71
[PMID] 8101041.
1993
Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down’s syndrome.
Human genetics.
90(5):521-5
[PMID] 8094066.
Grants
May 2024
ACTIVE
Dnajc13 p.N860S as a physiologic model of alpha-Synuclein overexpression
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS
Sep 2021
ACTIVE
Preemptive pharmacogenetic testing in medically underserved populations
Role: Co-Investigator
Funding: NATL INST OF HLTH NHGRI
Sep 2021
– Aug 2024
Whole Genome Sequencing for Multiple System Atrophy
Role: Principal Investigator
Funding: MULTIPLE SYSTEM ATROPHY COALITION
Apr 2021
– Apr 2023
Coro1c is a novel modifier of Lrrk2 Parkinsonism
Role: Principal Investigator
Funding: FOX FOU, MICHAEL J
Apr 2021
ACTIVE
Advancing Drug Repositioning for Alzheimers Disease using Real-world Data
Role: Co-Investigator
Funding: NATL INST OF HLTH NIA
Education
Ph.D., Human Genetics
1991-1996
·
St. Mary's Hospital Medical School, Imperial College, London, England
BSc. Biochemistry
1986-1991
·
King's College, London England
Contact Details
Phones:
- Business:
- (352) 273-5611
Emails:
- Business:
- m.farrer@ufl.edu
Addresses:
- Business Mailing:
-
PO Box 100236
GAINESVILLE FL 32610 - Business Street:
-
1149 NEWELL DR RM L1 151
GAINESVILLE FL 32610