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Photo of Bryan Traynor, Ph.D. Bryan Traynor, M.D., Ph.D., MMSc, MRCPI, Senior Investigator
Chief, Neuromuscular Diseases Research Section
Laboratory of Neurogenetics


Biography: Dr. Bryan J. Traynor is a Neurologist and a Senior Investigator at the National Institute on Aging. He has been the Chief of the Neuromuscular Diseases Research Section at the Laboratory of Neurogenetics since 2009. His laboratory is focused on unraveling the genetic etiology of amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) and other neuromuscular disorders.

Academic History: Dr. Traynor received his medical degree (MB, BCh, BAO) in 1993, his Medical Doctorate (MD) in 2000, and his Doctor of Philosophy (PhD) in 2012, all from his Alma mater University College Dublin. He also received a Masters in Medical Science (MMSc) from Harvard University and Massachusetts Institute of Technology in 2004. He has been a Member of the Royal College of Physicians of Ireland (MRCPI) since 1996 and an elected Fellow of the American Neurological Association since 2012.

Internal Medicine Residency at St. Vincent’s University Hospital, Dublin (1993 – 1996); Neurology Residency and Fellowship at the National Neuroscience Center of Ireland, Beaumont Hospital, Dublin (1996 – 1999). He moved to Boston in 1999, where he was a Neurology Resident (1999 – 2002), an ALS/Neuromuscular Fellow (2002 – 2004), and an Instructor and Staff Neurologist (2004 – 2005) at Harvard Medical School and Massachusetts General Hospital. He then moved to National Institutes of Health, Bethesda, in 2005, where he has been a Clinical Associate (2005 – 2009), an Assistant Clinical Investigator (2009 – 2011), an Investigator (2011 – 2014), and is currently a tenured Senior Investigator (2014 – present). He has been an adjunct faculty member of the Neurology Department at Johns Hopkins, Baltimore since 2006.

Research interests: Dr. Traynor is best known for his work aimed at understanding the genetic etiology of ALS. 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 ALS and frontotemporal dementia (Neuron 2011). His team also identified the same mutation in ~1% of patients clinically diagnosed with Alzheimer’s disease (NEJM 2012).

Other notable achievements of his laboratory include the first genome-wide association study of ALS (Lancet Neuro 2007); identification of the chromosome 9p21 association signal for ALS in the Finnish founder population (Lancet Neuro 2010); and discovery of mutations in the VCP and MATR3 genes as a cause of familial ALS (Neuron 2010, Nature Neuroscience 2014).

Dr. Traynor has over 160 publications in various professional journals including New England Journal of Medicine, Nature, Nature Genetics, Nature Neuroscience, Neuron, Annals of Neurology, Lancet Neurology, and Proceedings of the National Academy of Sciences (PNAS). He is a member of various grant review committees including the Scientific Review Committee of The ALS Association, the Integration Panel for the Congressionally Directed Department of Defense Alzheimer’s Disease Research Programs, and the Genetics of Health and Disease NIH Study Section. He also chairs the Integration Panel for the Congressionally Directed Department of Defense ALS Research, and is an editorial board member for the Journal of Neurology, Neurosurgery, and Psychiatry and Neurobiology of Aging.

Dr. Traynor is 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), the Sheila Essey Award for ALS Research (2013) and the Diamond Award (2013).

Relevant websites:

Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused by the C9ORF72 Gene Mutation (

Genetic Characterization of Movement Disorders (

Genetic Characterization of Dementia (

Google Scholar (

Selected Publications (out of 165, H-index = 57)

Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chiò A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ (2015). A genome-wide association study of myasthenia gravis. JAMA Neurology 72(4):396-404.

Singleton AB, Traynor BJ (2015). For complex disease genetics, collaboration drives progress. Science 347(6229):1422-3.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience 17:664-666

Renton AE, Chiò A, Traynor BJ (2014). State-of-play in ALS genetics. Nature Neuroscience 17:17-23

Renton AE, Traynor BJ (2013). CRESTing the ALS mountain. Nature Neuroscience 16:774–775

Donnelly CJ, Zhang P, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013). RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80: 415–428


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


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


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

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


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.


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

2007 and before

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

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, 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

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