Neurogenetics Lab | Fondazione Santa Lucia

Neurogenetics Lab

Areas of Investigation 

The Laboratory of Neurogenetics studies the genetic and molecular basis of hereditary linked neurological diseases. The research is specifically dedicated to the study of the mechanism of neurodegenerative diseases, such as hereditary spastic paraplegia, amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease and Alzheimer's disease. Our studies have the goal of transforming the knowledge gained in the laboratory into clinical applications (translational research).

 

Methodology and Techniques Applied

Searches are conducted through the use of DNA analysis methods and statistics derived from genetics, molecular biology and epidemiology. The most common techniques used include the extraction of genomic DNA and RNA, quantization and amplification of nucleic acids by PCR direct sequencing by Sanger method and next generation sequencing. Additional techniques include the analysis of genomic rearrangements by MLPA and Real Time-PCR, indirect genetic analysis by linkage studies, association studies, gene mapping, genetic epidemiology, in silico analysis and data from software analysis.

 

DNA Bank and Cells

The Laboratory of Neurogenetics maintains a depository of DNA and cells. Its function is to collect and preserve DNA and cells from affected individuals or carriers of neurological diseases and their relatives. Since its establishment in 2000, more than 5000 DNA samples and approximately 2500 cell lines have been accumulated in the Bank. Procedurally, the Bank operates in accordance with a protocol approved by the Bioethics Committee of the Santa Lucia Foundation consistent with the ethical standards recommended by the World Federation of Neurology. The Bank is a unique resource for genotype/phenotype correlation studies, population genetics studies, and several other research programs.

Collaborations 
  • Arthritis Research Campaign (ARC) -Epidemiology Unit, University of Manchester, Manchester, UK
  • ASL 9, Portoferraio, Elba Island
  • Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, UK
  • Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, ON, Canada
  • Department of Clinical Neuroscience, University of Tokushima, Tokushima,
  • Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
  • Department of Diagnostic Imaging and Radiology Interventistrica, University of Rome "Tor Vergata"
  • Department of Experimental Medicine and Biochemical Sciences, University of Perugia
  • Department of Hematology, Oncology and Molecular Medicine, National Institute of Health, Rome
  • Department of Medical Genetics, Instanbul Cerrahpaşa University School of Medicine, Istanbul, Turkey
  • Department of Medical-Surgical Specialties and Public Health, Neurology, University of Perugia
  • Department of Medicine (Neurology), The Toronto Hospital, Toronto, ON, Canada
  • Department of Medicine, Division of Neurology, University Health Network of Toronto, ON, Canada
  • Department of Neurological and Psychiatric Sciences, University of Florence
  • Department of Neurology, Federal University of Parana, Curitiba, PR, Brazil
  • Department of Neurology, Federal University of São Paulo, São Paulo, SP, Brazil
  • Department of Neurology, Hyogo Brain and Heart Center, Himeji City, Japan
  • Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan
  • Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA
  • Division of Neurology, University Hospital Antwerp, Antwerp, Belgium
  • Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
  • German Center of Neurodegenerative Diseases, Tubingen, Germany
  • Hertie Institute for Clinical Brain Research and Center of Neurology, Universityy of Tubingen, Tubingen, Germany
  • Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, UK
  • Laboratory of Experimental Neurophysiology, European Center for Brain Research (CERC) - Institute for Research, Hospitalization and Health Care (IRCCS) Saint Lucia, Rome
  • Laboratory of Neurochemistry of Lipids, European Centre for Research on Brain (CERC) - Institute for Research, Hospitalization and Health Care (IRCCS), Saint Lucia, Rome
  • Manchester, Manchester, UK
  • Memorial University, St. Clare's Mercy Hospital, St. John's, NL, Canada
  • Neurogenetics Group VIB Department of Molecular Genetics and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
  • Program in Genetics and Genetic Biology, The Hospital for Sick Children, Toronto, ON, Canada
  • Telethon Institute of Genetics and Medicine (TIGEM), Naples
  • Thalassemia Day Hospital, St. Eugene Hospital, Rome
  • University of Toronto Lupus Clinic, Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada
  • UOC Neurology, St. Eugene Hospital, Rome
Ongoing Research Projects 
  • Sequenziamento di nuova generazione nell’approccio clinico e genetico della paraplegia spastica ereditaria
  • Ricerca per nuovi geni malattia nella paraplegia spastica ereditaria
Completed Research Projects 
  • Sequenziamento di nuova generazione nell’approccio clinico e genetico della paraplegia spastica ereditaria
  • Identificazione di nuovi geni-malattia nella paraplegia spastica ereditaria
  • ITASPA, un network italiano per lo studio clinico e genetico delle paraparesi spastiche ereditarie
  • Paraplegia Spastica Ereditaria: ricerca per nuovi geni-malattia e correlazione genotipo-fenotipo
  • Studi genetici nelle paraparesi spastiche ereditarie
  • Identificazione di markers precoci biochimici e genetici per la prevenzione della malattia di Alzheimer nella popolazione affetta da diabete mellito
  • Studio delle paraparesi spastiche ereditarie in Italia: epidemiologia molecolare, caratterizzazione fenotipica delle forme geneticamente non definite, identificazione e caratterizzazione di nuovi loci e geni malattia
  • Molecular and genetic analysis of Autosomal Dominant Spastic Paraplegia
  • Meccanismi molecolari e cellulari delle malattie neurodegenerative del sistema motorio
  • Una rete nazionale per lo studio delle atassie spinocerebellari e delle paraparesi spastiche ereditarie in Italia: epidemiologia molecolare, caratterizzazione fenotipica delle forme geneticamente non definite, identificazione e caratterizzazione di nuovi loci e geni malattia
  • Biomarcatori periferici di neurodegenerazione finalizzati alla diagnostica presintomatica e al follow-up terapeutico: un network nazionale per la Malattia di Huntington, la Malattia di Alzheimer e la Sclerosi Multipla
  • Ricerca per nuovi geni-malattia e correlazione genotipo-fenotipo nella Paraplegia Spastica Ereditaria
  • Paraparesi Spastiche Ereditarie: studio genetico, funzionale e clinico
  • Ricerca di nuovi geni-malattia e correlazione genotipo-fenotipo nella Paraplegia Spastica Ereditaria
  • Studi di epidemiologia molecolare, caratterizzazione genotipo-fenotipo ed identificazione di nuovi loci e geni malattia nelle paraparesi spastiche ereditarie
  • I Disturbi Psicologici e Comportamentali nelle Demenze: approccio traslazionale sul ruolo della farmacogenetica, della neuroimmunologia e della caratterizzazione endofenotipica come predictors precoci della risposta al trattamento psicofarmacologico
  • Malattie neurodegenerative legate all’invecchiamento: dalla patogenesi alle prospettive terapeutiche per un progetto traslazionale
  • Malattie neurodegenerative legate all’invecchiamento: dalla patogenesi alle prospettive terapeutiche per un progetto traslazionale
  • Il ruolo della diagnosi preclinica nell’evoluzione del disturbo cognitivo delle Demenze e nella valutazione della risposta ai trattamenti
  • Il riconoscimento delle fasi precliniche di Demenza: un approccio multidisciplinare
  • Ricerca di nuovi geni che causano Demenza: targets per nuovi approcci diagnostici e terapeutici
  • Identification of locus and cloning of causative gene(s) for familial Amyotrophic Lateral Sclerosis (ALS) by linkage study
  • Studi di linkage e mutazionali nella Paraparesi Spastica Ereditaria   
  • Malattie genetiche neurologiche: screening diagnostico ad elevata efficienza e coordinamento operativo sovra-regionale
  • Identificazione di nuovi geni e meccanismi fisiopatogenetici della Malattia di Alzheimer
  • Geni delle Preseniline e Malattia di Alzheimer

Laboratory of Neurogenetics

Fondazione Santa Lucia Irccs

Via del Fosso di Fiorano, 64 00143 Rome

European Centre for Brain Research (CERC) – Floor 3 – Rooms 313, 316