Jozef Gecz

Professor, RNDr PhD

  • 14663 Citations
  • 67 h-Index
1988 …2020

Research output per year

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Personal profile

Public Profile

Brief biography:

Jozef Gécz is a NHMRC Senior Principal Research Fellow and Professor of Human Genetics at the Adelaide Medical School, the University of Adelaide. He joined the SAHMRI Women and Kids Theme in April 2016 as the Inaugural Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability.

In 2000 Jozef established and currently heads the Neurogenetics Research Program which focuses on genetics and biology of neurodevelopmental disabilities. In his 33 years of competitive research, he has discovered or contributed to the discovery of numerous (>200) genes for various forms of neurodevelopmental disabilities (e.g. FMR2, ARX, CDKL5, PHF6, PCDH19, UPF3B, IQSEC2, TBC1D24, USP9X, HCFC1, ZSWIM6, YY1 or RLIM to name a few).

Jozef has published in excess of 325 peer-reviewed publications. The main research interest of the Neurogenetics Research Program is gene identification and functional, cellular and molecular modelling of intellectual disabilities, epilepsies, autisms and cerebral palsies for better management and eventually treatment of these disorders.

Awards/Honours:

1986 Prize of Ministry of Education - awarded to top 10 students in the country

1989 Gold Medal of the Slovak Academy of Sciences - award to young scientist

1990 ESHG (European Society of Human Genetics) Travel award

1991 FEBS (Federation of European Biochemical Societies) Travel award

1994 Soros Foundation Travel award

2000 Nominated to HUGO Council

2005 Elected, president of the SA branch of HGSA, member of the HGSA Council

2005 Inaugural HGSA (Human Genetics Society of Australasia) 'Sutherland' lecture award’.

2007 South Australian Great Finalist in ‘Excellence in research for public good outcomes’

2008 Toshi Yamada memorial lecture, Institute of Molecular Biosciences and Queensland Institute of Brain Research, Queensland, Australia.

2009 NARF (National Association of Research Fellows) annual lecture award, Sydney, November 27, 2009.

2010 NHMRC Excellence Award for the highest ranking Program Grant Application (NHMRC 628952).

2010 Founding Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia (FFSc RCPA)

2012 Izakovic Memorial Medal Award of the Slovak Society of Medical Genetics.

2012 Award of the Associazione Abitanti Centro Storico di Roma (Rome, Italy) for research into molecular genetics of the disorders of the Central nervous system.

2015 Fellow of the AAHMS (Australian Academy of Health and Medical Sciences).

2016 Spirit of Progress Award, PCDH19 Alliance, San Francisco, USA, June 5, 2016.

2017 Fellow of the Australian Academy of Science

2019 Faculty of Health and Medical Sciences Executive Dean’s Award for Research Excellence

2019 SA Scientist of the Year

Selected seminal contributions:

1. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. New England Journal of Medicine 329(18):1308-1313, 1993.                       

2. Gécz J, Gedeon AG, Sutherland GR, Mulley JC. Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genetics 13(1):105-108, 1996.

 

3. Merienne K, Jacquot S, Pennetier S, Bankier A, Gécz J, Mandel JL, Mulley JC, Sassone-Corsi P and Hanauer A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics 22(1) 13-14, 1999.

 

4. Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE Mulley JC and Gécz J Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics22(4): 400-404, 1999.

 

5. Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics 30: 441-445, 2002.

 

6. Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J Mutations in PHF6are associated with Börjeson -Forssman-Lehmann syndrome Nature Genetics 32(4):661-5, 2002.

 

7. Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics 39(9):1127-1133, 2007.

 

8. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Sheperd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Hyong-Goo K, Geschwind D H, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF,  Futreal PA, Stratton MR, Mulley JC, Gécz J Protocadherin 19 mutations cause sex-limited epilepsy and cognitive impairment. Nature Genetics 40(6):776-81, 2008.

 

9. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gécz J, Raymond FL, Futreal PA, Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics 41(5):535-43, 2009.

 

10. Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6):486-488, 2010.

 

11. Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gécz J. A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24. American Journal of Human Genetics, 87(3):371-5, 2010.

 

12. Nguyen LS, Jolly L, Shoubridge C, Chan W, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Addington AM, Rapoport JL, Suren S, Hahn C, Gamble J, Wilkinson MF, Corbett MA, Gécz J. Transcriptome profiling of UPF3B/NMD deficient lymphoblastoid cells from patients with various forms of intellectual disability. Molecular Psychiatry, 17(11):1103-15, 2012.

 

13. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, Thompson E, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics 46(10):1063-71, 2014.

 

14. McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BWM, van Eyk CL, Broadbent J, Reynolds C, O’Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DH, Gibbs RA, Gécz J* and MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2):176-82, 2015* - corresponding author.

 

15. Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gécz J. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. American Journal of Human Genetics, 101:995-1005, 2017.

 

16. Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gécz J, Xia K, Zweifel LS, Eichler EE.. Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains. Nature Neuroscience, 20(8):1043-1051, 2017.

 

17. Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gécz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature. 562(7726):268-271, 2018.

 

18. Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gécz J. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Molecular Psychiatry 24(2):241-251, 2019.

 

19. Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gécz J. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications. 10(1):4920, 2019.

 

20. Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BA, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AM, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DR, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, ManeSM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gécz J#, MacLennan AH, Kruer MC. Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy. Nature Genetics, 2020, in press. #Shared last author.

 

 

 

See also:

https://researchers.adelaide.edu.au/profile/jozef.gecz

https://scholar.google.com.au/citations?user=FTejMNwAAAAJ&hl=en

https://pubmed.ncbi.nlm.nih.gov/?term=Gecz&sort=date&size=20

Keywords

  • Genomics
  • neurogenetics
  • Neuroscience
  • early origins of health
  • behaviour and brain health

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Research Output

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Pravata, V. M., Omelková, M., Stavridis, M. P., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gecz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. & van Aalten, D. M. F., 1 Jun 2020, In : European Journal of Human Genetics. 28, 6, p. 706-714 9 p.

Research output: Contribution to journalReview article

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R. & Gecz, J., 1 Dec 2020, In : Translational Psychiatry. 10, 1, 127.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response

Gan, L., Sun, J., Yang, S., Zhang, X., Chen, W., Sun, Y., Wu, X., Cheng, C., Yuan, J., Li, A., Corbett, M. A., Dixon, M. P., Thomas, T., Voss, A. K., Gécz, J., Wang, G. Z., Bonni, A., Li, Q. & Huang, J., 17 Mar 2020, In : Cell Reports. 30, 11, p. 3717-3728.e6

Research output: Contribution to journalArticle

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

Thai, M. H. N., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., Vulto-van Silfhout, A. T., Pfundt, R., Dixon, J., McGaughran, J., Pérez-Jurado, L. A., Gécz, J. & Shoubridge, C., 1 Aug 2020, In : Human Mutation. 41, 8, p. 1407-1424 18 p.

Research output: Contribution to journalArticle

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., van Eyk, C. L., Webber, D. L., Palmer, L. J. & Berry, J. G., 1 Sep 2020, In : Developmental Medicine and Child Neurology. 62, 9, p. 1024-1030 7 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)