Patrizia Malaspina




  • Name: Patrizia Malaspina
  • Specialized in: GABA catabolism; SSADH enzyme; Alzheimer’s disease; genetic polymorphic markers
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1980 Degree in Biological Sciences (cum laude), University “La Sapienza”, Rome.

1992 PhD in Medical Genetics, University “La Sapienza” Rome.

1993 Degree of Specialization in Medical Genetics (cum laude), University “La Sapienza” Rome.


1983-1985 Research fellow, Department of Biology and Genetics, University of Naples, Italy

1985-1989 PhD student, Department of Biology, University “Tor Vergata”, Rome, Italy

1987 Honorary research assistant, Galton Lab. (UCL, London, U.K.).

1991-92 Research fellow, MRC Human Biochemical Genetic Unit (UCL, London, U.K.)

1994-2001 Assistant Professor of Genetics, Department of Biology, University “Tor Vergata”, Rome, Italy.

2002 to present Associate Professor of Genetics, Department of Biology, University “Tor Vergata”, Rome, Italy.


2001 CNR Short term mobility fellowship with the project “Molecular characterization of 4-idroxybutyric aciduria patients” at Dept. of Molecular and Medical Genetics, OHSU, Portland, OR, USA.

1991-1992 Bursary issued by EEC in the “Human Genome Analysis Program”


1996 Telethon project “Characterization of the genomic structure of the human SSADH gene”

1998-2000 Telethon project “Characterization of the genomic structure of the human SSADH gene”

2000-2002 Ministero degli Affari Esteri “Human biodiversity of Russsian population” Russian-Italian collaboration).

2001 Programma CNR – Agenzia 2000 “Individuazione delle linee evolutive del cromosoma Y umano nelle popolazioni dell’Italia meridionale”.

2002-2006 Ministero Affari Esteri Una banca del DNA rappresentativa della biodiversità genetica umana nella popolazione russa” “Human biodiversity of Russsian population” Russian-Italian collaboration).

2010-2013 Dipartimento Amministrazione Penitenziaria (DAP): attività sperimentali e di ricerca per la realizzazione di un laboratorio di tipizzazione genetica.

Research field

In the last years, we addressed our research on the molecular characterization of genes relevant to GABA metabolism to identify variants that alter the risk of metabolic and neurodegenerative diseases with involvement of the GABAergic system. One of the objectives is the development of experimental protocols that allow the determination of fast and economic methods to identify molecular variants in groups of patients and controls. Furthermore, the expression of genes involved in the metabolism of GABA is studied through in vitro cell systems in response to endogenous or exogenous stresses that may alter this pathway.


  1. P. Malaspina, M.J. Picklo, C. Jakobs, O.C. 3rd Snead, K.M. Gibson (2009) Comparative genomics of Aldehyde Dehydrogenase 5A1 (Succinate Semialdehyde Dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency. Human Genomics 3:106-120.

  1. G. Di Rosa, P. Malaspina, P. Blasi, C. Dionisi-Vici, C. Rizzo, G. Tortorella, S.R. Crutchfield, K.M. Gibson (2009) Visual Evoked Potentials in Succinate Semialdehyde Dehydrogenase (SSADH) Deficiency. J. Inherit. Metab. Dis. Suppl 1:S201-5.

  1. K.J. Kim, P.L. Pearl, K. Jensen, O.C. 3RD Snead, P. Malaspina, C. Jakobs, K.M. Gibson (2011) Succinic Semialdehyde Dehydrogenase (SSADH): Biochemical-Molecular-Clinical Disease Mechanisms, Redox Regulation and Functional Significance. Antioxidants & Redox Signaling 15:691-718.

  1. A. Novelletto, R. Gulli, P. Ciotti, C. Vitale, P. Malaspina, P. Blasi, T. Pippucci, M. Seri, A. Cozzolino, L. Bilo, G. Abbruzzese, P. Martinelli, E. Bellone, P. Barone, P. Mandich (2011). Linkage exclusion in Italian families with hereditary Essential Tremor. European Journal of Neurology 18(9):e118-e120.

  2. P. Malaspina, J.B. Roullet, P.L. Pearl, G.R. Ainslie, K.R. Vogel, K.M. Gibson (2016). Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 99:72-84.

6) F. Caputo F., B.M. Ciminelli, C. Jodice, P. Blasi, T. Vignoli, M. Cibin, G. Zoli, P. Malaspina (2017). Alcohol Use Disorder and GABA B receptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies. Ann Hum Biol.24:1-15.

7) S. Leo, C. Capo, B.C. Ciminelli, F. Iacovelli, G. Menduti, S. Funghini, M.A. Donati, M. Falconi, L. Rossi, P. Malaspina (2017). SSADH deficiency in an Italian family: a novel aldh5a1 gene mutation affecting the succinic semialdehyde substrate binding site. Metabol Brain Dis 32:1383-1388.

patrizia malaspina


Education & Training