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Research Interests

Neurodevelopmental disorders (NDDs) linked to mistakes in transcriptional regulation comprise a huge spectrum of diseases, such as cortical malformations, epileptic encephalopathy, intellectual disability (ID) and autism. While mutations in numerous genes have been linked to NDDs, a more limited number of molecular and cellular networks are emerging, whose disruption could be shared by groups of comorbidity-related genes.

The aims of our work are to elucidate how genetic changes in NDD genes and pathways can affect brain development and functioning, and, subsequently, lead to disease, and whether they can be corrected at specific developmental stages, upon drug-treatments.

Discovery of disease-related pathways shared by XLID/Epilepsy disorders

The overall goal of this project is to dissect the transcriptional network in Aristaless-related Homeobox (ARX) Epilepsy to better understand the biological mechanisms through which defects in ARX modify chain-of-command and cause fault in brain functioning. We first identified a defective epileptogenic path controlled by the homeotic transcription factor ARX that causes a mis-regulation of effector genes via a direct positive target, Lysine-specific demethylase 5C (KDM5C). KDM5C is an XLID/Epilepsy gene encoding a histone methylation eraser whose function is crucial for brain development. Our data provides an example of how the interaction between peculiar NDD genes regulates cascading events and how their deregulation may trigger specific clinical phenotypes. We are currently testing the hypothesis that ARX is a key selector of a subset of genes whose mutations are causative of related neurophenotypes. Using a variety of in vivo and in vitro approaches, we are analysing second-order effects, reconstructing the modified chain-of-command and disentangling molecular and cellular signatures.  Overall, we aim to identify convergent modules of interconnected genes that could be commonly damaged in other ID and Epilepsy phenotypes.

Towards the identification of druggable Epilepsy disease-hallmarks and new compounds

Considering that Epilepsy associated with ARX mutations is largely pharmaco-resistant, the aim of this project is to identify druggable target molecules and correct gene-specific faults.

Towards this goal, we first identified in Arx disease models distinct neuronal hallmarks in association with reduced levels of specific synaptic proteins. More recently, we focused on the identification of tools and/or drugs able to correct regulatory runaways during neuronal differentiation and brain maturation, both in vitro and in vivo conditions. We are currently exploring three different approaches: transcription factor targeting, RNA-based technology and epigenetic modifications. Thus, we will be able to study neuronal circuits in goal-directed drug response in vivo and design tractable strategies for intervention.

19th International Workshop on Fragile X and other Neurodevelopmental Disorders

9th International Conference on Unstable Microsatellites and Human Disease

Short CV


  • PhD in Systematic Biology, Faculty of Biological Sciences, University of Naples Federico II, Naples, 2003.
  • Master of Science in Statistical Genetics, Faculty of Medicine, University of Pavia, European Schools for Advanced Studies in Molecular Medicine and Genetic Epidemiology, Pavia, 2000.
  • Specialist Degree summa cum laude in Medical Genetics, Faculty of Medicine at the University of Rome La Sapienza, Rome, 1997.
  • Degree summa cum laude in Biology, Faculty of Biological Sciences at the University of Naples Federico II, Naples, 1990.

Research Experience

  • Group Leader in Human Molecular Neurogenetics, 2006 - Present.
  • CNR Researcher at Institute of Genetics and Biophysics “Adriano Buzzati Traverso”, Naples, 2001 - Present.
  • International Institute of Genetics and Biophysics, Naples, Telethon and MIUR Fellowship, 1998 - 2000.
  • International Institute of Genetics and Biophysics, Naples, CNR Fellowship, 1996.
  • National Cancer Institute, Naples, 1995. Fellowship.
  • University of Naples “Federico II”, Faculty of Medicine, Cytogenetic and Prenatal Diagnosis. Naples, 1992 -1994.
  • International Institute of Genetics and Biophysics-CNR, Naples, Post−degree Training, 1991-1992.

Scientific Visit

  • CNR-Short Term Fellow visiting the University of Adelaide. Australia. 2013.
  • Medical Research Council Fellow visiting the Human Genetic Unit−MRC, Edinburgh, UK.1999.
  • EMBO short-term Fellow visiting the Human Genetic Unit at Medical Research Council (MRC), Edinburgh, UK,1998.


Job opening

  • PhD position - INCIPIT Programme: Disease-pathway in Epilepsy and in vivo drug screening.


Selected Publications
  • Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG. 2013. A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX. Am J Hum Genet. 92:114-125.
  • Fusco F, D'Urso M, Miano MG, Ursini MV. 2010. The LCR at the IKBKG locus is prone to recombine. Am J Hum Genet. 86:650-652.
  • Miano MG, Laperuta C, Chiurazzi P, D’Urso M, Ursini MV. 2007. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: Case report. BMC Medical Genetics 11:8-18
  • Laperuta C, Spizzichino L, D’Adamo P, Monfregola J, Maiorino A, D’Eustacchio A, Ventruto V, Neri G, D’Urso M, Chiurazzi P, Ursini MV, Miano MG. 2007. MRX87 family with Aristaless dup24bp mutation and implication for polyAlanine expansions. BMC Medical Genetics, 4:8-25.
  • Abidi F, Miano MG, Murray J, Schwartz CE. 2007. A novel mutation in the PHF8 gene is associated with X linked mental retardation with cleft Lip/cleft palate. Clin Genet. 72:19-22
  • Annunziata I, Lanzara C, Conte I, Zullo A, Ventruto V, Rinaldi MM, D’Urso M, Casari G, Ciccodicola A, Miano MG. 2003. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in Non Specific X-Linked Mental Retardation.  Am. J. Med Gen. 118: 76-80.
  • Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Stone EM, Sheffield VC, Wright AF.  2000. Pitfalls in homozygosity mapping. Am. J. Hum. Gen. 67.
  • Vervoort R, Lennon A, Bird A, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. 2000. Mutational hot spot within a novel RPGR exon in X-linked retinitis pigmentosa.  Nat. Gen., 25: 462-466.
  • Lucia Altucci, Second University of Naples, Naples, Italy.
  • Patrick Collombat, INSERM U636, Faculte des Sciences, Nice, France.
  • Jozef Gecz, Neurogenetics Research Program, Women's and Children's Hospital Adelaide. Adelaide, Australia.
  • Stefano Gustincich, International School for Advanced Studies SISSA, Trieste, Italy.
  • Charles Schwartz, Self Research Institute, Genetic Center, Greenwood, SC, USA.
  • Cheryl Shoubridge, University of Australia, Australia.
  • Hans vanBokhoven, Molecular Neurogenetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Keywords: Neurodevelopmental disorders (NDDs), Refractory Epilepsy, Aristaless-related Homeobox (ARX), Drug discovery

Maria Giuseppina Miano

CNR Researcher (Ricercatore)

+39 081 6132261

Staff Members:

Nunzia Amato
Undergraduate Student (Tesista)

Stefania Bragliola

Irem Cankaya
Undergraduate Student (Tesista)

Giuseppe Cervicato
Undergraduate Student (Tesista)

Denise Drongitis
External Collaborator

Greta Lentisco
Undergraduate Student (Tesista)

Miriana Lepre
Undergraduate Student (Tesista)

Mario Mallardo
Undergraduate Student (Tesista)

Angese Padula
External Collaborator

Loredana Poeta
External Collaborator

Federica Romano
Undergraduate Student (Tesista)

Mariacarmine Tuccillo
Undergraduate Student (Tesista)

Lucia Verrillo
PhD Student (Dottorando)