contact details

Associate Professor of Human Genetics
Molecular & Cellular Therapeutics, RCSI

123 St Stephens Green, Dublin 2
Telephone: 01 4022146

Department Secretary:  


2006: PhD Human Genetics, University College London. Epilepsy genetics and pharmacogenetics

2000: BA Genetics, Trinity College Dublin. Population Genetics


2005 to 2006: Post Doctoral Research Scientist, Duke University Institute for Genome Sciences and Policy

2002 to 2005: PhD student, University College London, Gower St, London, UK

2000 to 2002: Research Scientist, Stanford University, Palo Alto, California, USA

summary of research career to date

Prof. Gianpiero Cavalleri leads the Human Genetic Variation Research Group at RCSI. With developments in DNA sequencing technology it is now possible to sequence complete genomes in a couple of days for relatively low cost. As the community of geneticists sequences more and more genomes, we appreciate the amount of genetic variation that exists in the human population. This variation plays a crucial role in shaping human health and performance. The HGVR group at RCSI is working to improve our understanding of the nature, extent and geographic distribuition of human genetic variation. In this context, the group has ongoing projects characterising i) genetic sigatures influencing epilepsy predisposition and treatment in humans; ii) regions of the human genome under selection in high altitude/low oxygen environments and iii) exploring human population structure at genetic level

research interests

Dr. Cavalleri’s research programme at RCSI focuses on developing methods to understand the genetic component to complex traits in humans, in particular those related to the development and treatment of sporadic forms of epilepsy. He is also involved in a variety of additional projects that use the latest genetic techniques, to help inform donor-recipient matches to improve outcome of organ transplantation, and to understand how our genes contribute to cardiovascular disease. Dr. Cavalleri recently initiated a project seeking to understand how evolution in the high altitude environment of the Himalaya has shaped the genomes of indigenous individuals of the region.

research areas

Neuroscience, Neurological diseases


Epidemiology and Public Health Nucleus for the European Association for Cardiovascular Prevention and Rehabilitation (2006-2010)


2014: Career Development Award, Science Foundation Ireland

Personal Links

International Collaborations

Sanjay Sisodiya, Univerity College London, UK ; David Goldstein, Duke University, USA ; Kevin Shianna, Duke University, USA ; Michael Weale, Kings College London, UK ; Chantal Depondt, University Libre de Bruxelles, Belgium ; Nicholas Wood, Univerity College London, UK
Genetics and pharmacogenetics of epilepsy
(Jun 2006)

Hugh Montgomery, University College London, UK ; Peter Robbins, Oxford University, UK ; Michael Weale, Kings College London, UK ; Michael Tam, Chinese University of Hong Kong, Hong Kong ; Gao Yang, Beijing Genomics Institute, China ; Chen Chen, Beijing Genomics Institute, China ; Kevin Shianna, Duke University, USA
The genetics of high altitude adaptation
(Jun 2006)

Peer Reviewed Publications

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy.
Am J Hum Genet. 2012 Aug 1.     PMID: 22863189     (Aug 2012)

Alhusaini S, Doherty CP, Palaniyappan L, Scanlon C, Maguire S, Brennan P, Delanty N, Fitzsimons M, Cavalleri GL.
Asymmetric cortical surface area and morphology changes in mesial temporal lobe epilepsy with hippocampal sclerosis.
Epilepsia. 2012 Jun;53(6):995-1003     PMID: 22510097     (Apr 2012)

McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, Carrington M, Sills GJ, Marson T, Jia X, de Bakker PI, Chinthapalli K, Molokhia M, Johnson MR, O'Connor GD, Chaila E, Alhusaini S, Shianna KV, Radtke RA, Heinzen EL, Walley N, Pandolfo M, Pichler W, Park BK, Depondt C, Sisodiya SM, Goldstein DB, Deloukas P, Delanty N, Cavalleri GL, Pirmohamed M
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
N Engl J Med. 2011 Mar 24;364(12):1134-43.     PMID: 21428769     (Mar 2011)

Kasperaviciūte D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J, et al
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Brain     PMID:     (Jul 2010)

Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, Knight J, Li C, Li JC, Liang Y, McCormack M, Montgomery HE, Pan H, Robbins PA, Shianna KV, Tam SC, Tsering N, Veeramah KR, Wang W, Wangdui P, Weale ME, Xu Y, Xu Z, Yang L, Zaman MJ, Zeng C, Zhang L, Zhang X, Zhaxi P, Zheng YT.
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.
PNAS     PMID: 20534544     (Jun 2010)

O'Dushlaine CT, Morris D, Moskvina V, Kirov G, Consortium IS, Gill M, Corvin A, Wilson JF, Cavalleri GL.
Population structure and genome-wide patterns of variation in Ireland and Britain.
EJHG     PMID: 20571510     (Jun 2010)

Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, et al
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet     PMID: 20398883     (May 2010)

Petrovski S, Scheffer IE, Sisodiya SM, O'Brien TJ, Berkovic SF; EPIGEN Consortium.
Lack of replication of association between scn1a SNP and febrile seizures.
Neurology     PMID: 19949041     (Dec 2009)

Kuper H, Nicholson A, Kivimaki M, Aitsi-Selmi A, Cavalleri G, Deanfield JE, Heuschmann P, Jouven X, Malyutina S, Mayosi BM, Sans S, Thomsen T, Witteman JC, Hingorani AD, Lawlor DA, Hemingway H.
Evaluating the causal relevance of diverse risk markers: horizontal systematic review.
BMJ     PMID: 19892791     (Nov 2009)

Lynch JM, Tate SK, Kinirons P, Weale ME, Cavalleri GL, Depondt C, Murphy K, O'Rourke D, Doherty CP, Shianna KV, Wood NW, Sander JW, Delanty N, Goldstein DB, Sisodiya SM.
No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.
Epilepsy Res.     PMID: 18977120     (Oct 2009)

Lynch JM, Tate SK, Kinirons P, Weale ME, Cavalleri GL, Depondt C, Murphy K, O'Rourke D, Doherty CP, Shianna KV, Wood NW, Sander JW, Delanty N, Goldstein DB, Sisodiya SM.
No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.
Epilepsy Res     PMID: 18977120     (Jan 2009)

C. Verzilli, T. Shah, J. P. Casas, J. Chapman, M. Sandhu, S. L. Debenham, M. Boekholdt, K.T. Khaw, N. J. Wareham R. Judson, E. J. Benjamin, S. Kathiresan, M. G. Larson, J. Rong, R. Sofat, S. E. Humphries, L. Smeeth, G. L. Cavalleri, J. C. Whittaker, A. D. Hingorani.
Bayesian meta analysis of genetic association studies with different sets of markers.
Am J Hum Genet     PMID: 18394581     (Apr 2008)

C. T. O’Dushlaine, C. Dolan, M. E. Weale, A. Stanton, D. T. Croke, R. Kalviainen, S. M. Sisodiya, M. Gill, A. P. Corvin, D. W. Morris, N. Delanty and G. L. Cavalleri.
An assessment of the Irish population for large-scale genetic mapping studies.
The European Journal of Human Genetics     PMID: 17971835     (Feb 2008)

G. L. Cavalleri, M. E. Weale, K. V. Shianna, R. Singh, J. M. Lynch, B. Grinton, C. Szoeke, K. Murphy, P. Kinirons, D. O’Rourke, D. Ge, C. Depondt, K. G. Claeys, M. Pandolfo, C. Gumbs, N. Walley, J. McNamara, J. C. Mulley, K. N. Linney, L. J. Sheffield, R. A. Radtke, S. K. Tate, S. L.Chissoe, R.l A. Gibson, D. Hosford, A. Stanton, T. D. Graves, M. G. Hanna, K. Eriksson, A. Kantanen, R. Kalviainen, T. J. O'Brien, J. W. Sander, J. S. Duncan, I. E. Scheffer, S. F. Berkovic
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
The Lancet Neurology     PMID: 17913586     (Nov 2007)

G. L. Cavalleri, N. M. Walley, N. Soranzo, J. Mulley, C. P. Doherty, A. Kapoor, C. Depondt, J. M. Lynch, I. E Scheffer, A. Heil, A. Gehrmann, P. Kinirons, S. Gandhi, P. Satishchandra, N. W. Wood, A. Anand, T. Sander, S. F Berkovic, N. Delanty, D. B. Goldstein and S. M. Sisodiya.
A multicentre study of BRD2 as a risk factor for juvenile myoclonic epilepsy
Epilepsia     PMID: 17437413     (Apr 2007)

J.P. Casas, G. L. Cavalleri, A. Hingorani
Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review
American Journal of Epidemiology     PMID: 17018701     (Nov 2006)

Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH.
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose.
Pharmacogenet Genomics     PMID: 17001291     (Oct 2006)

P. Kinirons*, G. L. Cavalleri*, A. Shahwan, N. W. Wood, D. B. Goldstein, S. M Sisodiya, N. Delanty, C. P Doherty
Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs
Epilepsy Research     PMID: 16806831     (Aug 2006)

P. Kinirons*, G. L. Cavalleri*, R. Singh, A. Sharwan, J. F. Acheson, N. W. Wood, D. B. Goldstein, S. M. Sisodiya, C. P. Doherty and N. Delanty
A Pharmacogenetic Exploration of Vigabatrin-induced Visual Field Constriction.
Epilepsy Research     PMID: 16675198     (Aug 2006)

Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR.
Role of SOX2 mutations in human hippocampal malformations and epilepsy
Epilepsia     PMID: 16529618     (May 2006)

D. B. Goldstein, G. L. Cavalleri
Genomics: understanding human diversity
Nature     PMID: 16251937     (Oct 2005)

G. L. Cavalleri, C. Depondt, M.W Burley, N. W. Wood, S. M. Sisodiya and D. B. Goldstein
Failure to replicate any reported genetic associations with sporadic temporal lobe epilepsy: lessons for the study of complex traits
Brain     PMID: 15888540     (Aug 2005)

S. K. Tate*, C. Depondt*, S. M. Sisodiya, G. L. Cavalleri, S. Schorge, N. Soranzo, M. Thom, A. Sen, S. D. Shorvon, J. W. Sander, N. W. Wood, and D. B. Goldstein
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
PNAS     PMID: 15805193     (Apr 2005)

N. Soranzo, G. L. Cavalleri, N. W. Wood, M. E. Weale, S. M. Sisodiya, D. B.Goldstein
Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene
Genome Research     PMID: 15197162     (Jul 2004)

Cinniošlu C, King R, Kivisild T, Kalfošlu E, Atasoy S, Cavalleri GL, Lillie AS, Roseman CC, Lin AA, Prince K, Oefner PJ, Shen P, Semino O, Cavalli-Sforza LL, Underhill PA.
Excavating Y-chromosome haplotype strata in Anatolia.
Hum Genet.     PMID: 14586639     (Jan 2004)

D. B. Goldstein, G. L. Cavalleri, K. R. Ahmadi
The genetics of common diseases: 10 million times as hard
Cold Spring Harb Symp Quant Biol     PMID: 15338641     (Oct 2003)

G. Passarino, G. L. Cavalleri, A. A. Lin, L. L. Cavalli-Sforza, A. L. Borresen-Dale, P. A. Underhill
Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms
The European Journal of Human Genetics.     PMID: 12173029     (Sep 2002)

Research Team
Current Students

Edmund Gilbert (PhD / 4 yrs)

Caragh Stapleton (PhD / 3 yrs)