Dr. Traynor received his medical degree (MB, BCh, BAO) from University College Dublin medical school in 1993, a Medical Doctorate (MD) in the epidemiology and genetics of ALS from University College Dublin in 2000, a Masters in Medical Science (MMSc) on drug discovery and clinical trial design from Harvard University and Massachusetts Institute of Technology in 2004, and a Doctor of Philosophy (PhD) on the Genetics of ALS from University College Dublin in 2012. He has been a Member of the Royal College of Physicians of Ireland (MRCPI) since 1996.

Research interests: Dr. Traynor is best known for his work aimed at understanding the genetic etiology of ALS. His laboratory published the first genome-wide association study of ALS (2007); was the first to identify an association signal for ALS on the short arm of chromosome 9 in the Finnish founder population (2010); and discovered that mutations in the VCP gene are responsible for a significant fraction of familial ALS (2010). In 2011, he led the international consortium that identified a pathogenic hexanucleotide repeat expansion in the C9ORF72 gene as the underlying mutation in a large proportion of familial ALS and frontotemporal dementia, as well as the more common, sporadic forms of both neurodegenerative diseases. His team also demonstrated that the same mutation is present in ~1% of patients clinically diagnosed with Alzheimer’s disease (2012).

Dr. Traynor has over eighty publications in various professional journals including New England Journal of Medicine, Nature, Nature Genetics, Neuron, Annals of Neurology, Neurology, Lancet Neurology, Human Molecular Genetics, and Proceedings of the National Academy of Sciences (PNAS). He is a member of the Scientific Review Committee of The ALS Association, and a member of the Integration Panel for the Congressionally Directed Department of Defense ALS Research Program, and of the Integration Panel for the Congressionally Directed Department of Defense Alzheimer’s Disease Research Program. He has also sat on various NIH Study Sections, and is an editorial board member for the Journal of Neurology, Neurosurgery, and Psychiatry (established 1920). Dr. Traynor is also the recipient of the NIA Director’s Award (2011), the NIH Director’s Award (2012), the John W. Griffin Innovator Award (2012), the Derek Denny Brown Neurological Scholar Award (2012), and the Sheila Essey Award for ALS Research (2013).

Selected Publications (out of 104, H-index = 35)

2012

Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova S, Troncoso JC, Hardy J, Singleton AB, Traynor BJ (2012). Repeat Expansion in C9ORF72 in Alzheimer’s Disease. New England Journal of Medicine 366: 283-284

Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology 11:323-330.

Chiò A (ex equo), Borghero G (ex equo), Restagno G (ex equo), Mora G (ex equo), Drepper C (ex equo), Traynor BJ (ex equo), Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu A, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Pinter GL, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S, the ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M (2012). Clinical characteristics of familial ALS patients carrying the pathogenic GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene. Brain 135:784-793

Cooper-Knock J, Hewitt C, Robin Highley J, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ (2012). Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135:751-761

Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ (2012). Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging [Epub ahead of print]

2011
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; The ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011). A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron 72:257-68

Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Arepalli S, Chong S, Hernandez DG, ITALSGEN, Traynor BJ (ex equo), and Restagno G (ex equo) (2011). A large proportion of ALS cases in Sardinia are due to a single founder mutation of the TARDBP gene. Archives of Neurology 68:594-598

Lai S, Abramzona Y, Schymick JC, Stephane DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F, the ITALSGEN consortium, Mora G, Restagno G, Chiò A, and Traynor BJ (2011). FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 32:550.e1-4

Chiò A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ (ex equo), and Restagno G (ex equo) (2011). A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiology of Aging 32:553.e23-6

Hernandez DG, Nalls MA, Gibbs JR, Arepalli S, van der Brug M, Chong S, Moore M, Longo DL, Cookson MR, Traynor BJ, Singleton AB (2011). Distinct DNA methylation changes highly correlated with chronological age in the human brain. Human Molecular Genetics 20:1164-1172

2010
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang M, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, ITALSGEN, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, and Traynor BJ (2010). Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68:857-864

Logroscino G (ex equo), Traynor BJ (ex equo), Hardiman O, Chiò A, Mitchell D, Swingler RJ, Millul A, Benn E, and Beghi E (2010). Incidence of amyotrophic lateral sclerosis in Europe. Journal of Neurology, Neurosurgery and Psychiatry 81:385-390

Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, and Singleton AB (2010). Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genetics 6:e1000952. PMC2869317.

Traynor BJ, Nalls M, Lai SL, Gibbs JR, Schymick J, Arepalli S, Hernandez D, van der Brug MP, Johnson JO, Dillman A, Cookson M, Singleton AB, Moglia C, Calvo A, Restagno G, Mora G, and Chiò A (2010). KIFAP3 has no effect on survival in a population-based cohort of ALS patients. Proceedings of the National Academy of Sciences (PNAS) 107:12335-12338. PMC2901467.

Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai S-L, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, and Traynor BJ (2010). Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurology 9:978-985

Traynor BJ and Singleton AB (2010). Nature versus Nurture: death of a dogma, and the road ahead. Neuron 68:196-200

2009
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, and Traynor BJ (2009). A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics 18:1524-1532. PMC2664150.

Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V, and the ITALSGEN Consortium (2009). Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiology of Aging 30:1272-1275. PMC2771748.

2008
Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, and Hardiman O (2008). A genome-wide association study of sporadic ALS in a homogenous Irish population. Human Molecular Genetics 17:768-774

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, and Singleton AB (2008). Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451:998-1003

Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, and Traynor BJ (2008). TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis. PLoS ONE 3:e2450. PMC2408729.

Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, and Restagno G (2008). Prevalence of SOD1 mutations in the Italian ALS population. Neurology 12:533-537

2007
Schymick J, Scholz SW, Fung HC, Britton A, Arepelli S, Gibbs JR, Lombardi F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, and Traynor BJ (2007). Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls. Lancet Neurology 6:322-328

Cronin S, Hardiman O, and Traynor BJ (2007). Ethnic variation in the incidence of ALS: a systematic review. Neurology 68:1002-1007

Schymick JC, Talbot K, and Traynor BJ (2007). Genetics of Sporadic ALS. Human Molecular Genetics 16:R233-242

2006 and before
Traynor BJ, Bruijn L, Conwit R, Beal F, O’Neill G, Fagan SC, and Cudkowicz ME (2006). Neuroprotective agents for clinical trials in ALS: A systematic assessment. Neurology 67:20-27

Traynor BJ, Alexander M, Corr B, Frost E, and Hardiman O (2003). Effect of multi-disciplinary ALS clinic on ALS survival: A population-based study, 1996 - 2001. Journal of Neurology, Neurosurgery and Psychiatry 74:1258-1261. PMC1738639.

Alexander MD, Traynor BJ, N Miller, Corr B, Frost E, S McQuaid, FM Brett, A Green, and Hardiman O (2002). “True” Sporadic ALS associated with a novel SOD1 mutation. Annals of Neurology 52:680-683

Traynor BJ, Codd MB, Corr B, C Forde, Frost E, and Hardiman O (2000). Amyotrophic lateral sclerosis mimic syndromes: a population-based study. Archives of Neurology 57:109-113

Traynor BJ, Codd MB, Corr B, Forde C, Frost E, and Hardiman O (2000). Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. Archives of Neurology 57:1171-1176

Traynor BJ, Codd MB, Corr B, Forde C, Frost E, and Hardiman O (1999). Incidence and prevalence of amyotrophic lateral sclerosis in Ireland, 1995-1997: A population-based study. Neurology 52:504-509