Di Resta Chiara Ricercatore a tempo determinatoMedicinaMED/05

Competenze

Ambiti

Elettrofisiologia, genetica, biologia molecolare e cellulare

 

Tecniche acquisite

Patch-clamp su cellula e slice usando la configurazione whole-cell (in voltage e current clamp) e di single channel (in cell-attached e out-side out)

Montaggio e manutenzione di un set-up per patch-clamp

Utilizzo del microscopio ottico

 

Mantenimento sia di colture primarie (neuroni dissociati da fettine di cervello di topo) che di linee cellulari immortalizzate (HEK 293, SY5Y, F11, CHO)

Abilità nell’operare in condizioni di sterilità

Transfezioni transienti di cellule eucariotiche, utilizzando diversi metodi (metodo del Ca²⁺-fosfato, Lipofectamina, Fugene )

 

Dimestichezza nel lavorare in stabulario con topi, ratti e cavie

 

Estrazione di DNA da sangue sia tramite metodi classici (fenolo-cloroformio) che estrattore automatico

Estrazione di RNA da linfociti umani

PCR

Retrotrascrizione

Messa a punto di protocolli per il sequenziamento di geni

MLPA (multiplex ligation-dipendent probe amplification)

Sequenziamento utilizzando un sequenziatore automatico (ABI 3730, Applied Biosystem)

DHPLC

Next generation sequencing

Estrazione proteica da cellule in coltura

Western-blot

 

Colture batteriche (amplificazion ed estrazione DNA plasmidico, rendere elettrocompetenti ceppi di E.Coli, elettrotrasformazione di ceppi di E.Coli)

Clonaggi di geni in vettori d’espressione

Mutagenesi

Corso di studi

Novembre 2015                            

Ricercatore in Patologia Clinica (Med/05), Università Vita-Salute San Raffaele

 

Giugno 2011-oggi

Scuola di Specialità in Patologia Clinica, Università degli studi di Pavia

 

Novembre 2008-oggi

Post-doctoral fellowship presso l’Unità di Genomica per la diagnosi delle patologie umane, Dipartimento di genetica e Biologia Cellulare, Ospedale San Raffaele, Milano

 

Novembre 2008

PhD in Medicina Molecolare e Translazionale

presso il laboratorio di Fisiologia Cellulare del Dipartimento di Biotecnologie e Bioscienze, Università degli studi di Milano-Bicocca

Votazione finale: Eccellente

 

Gennaio 2007

Abilitazione all’esercizio della professione di Biologo e iscrizione all’albo

                                                                      

Ottobre 2005

Laurea quinquennale in Scienze Biologiche

presso il laboratorio di Fisiologia Cellulare del Dipartimento di Biotecnologie e Bioscienze, Università degli studi di Milano-Bicocca. Votazione finale: 108/110

 

Luglio 2000

Maturità Classica presso il Liceo Classico “E.Majorana”, Desio (Mi)

 

Esperienze professionali

Novembre 2008 – ottobre 2015: collaborazione a progetto presso l’Unità di Genomica per la diagnosi delle patologie umane, Dipartimento di Genetica e Biologia cellulare, Ospedale San Raffaele, Milano

 

Ottobre 2008-ottobre 2013: Attività di professore a contratto dal 01/10 al 23/10 per il tutoraggio del laboratorio didattico di Biologia Sperimentale – (modulo di fisiologia)- nell’ambito del corso di laurea triennale in Scienze Biologiche, presso l’Università degli Studi di Milano-Bicocca.

 

Novembre 2005 – Novembre 2008: dottorato in medicina molecolare e translazionale presso il laboratorio di fisiologia cellulare del sistema nervoso centrale del dipartimento di Biotecnologie e Bioscienze dell’Università degli studi di Milano-Bicocca.

 

Settembre 2004 – Ottobre 2005: tesi presso il laboratorio di fisiologia cellulare del sistema nervoso centrale del dipartimento di Biotecnologie e Bioscienze dell’Università degli studi di Milano-Bicocca.

 

Altre competenze ed attitudini

Lingue straniere:

Inglese

scritto: ottimo

parlato: buono

comprensione: buono

Conoscenze informatiche:

Mac OS X, Windows XP, Pacchetto Office (Excel, Word, Power point), Origin, Axon Laboratory, pClamp, Internet explorer, Coreldraw, Acrobat reader, Sequencher, Oligo 7, Gene Mapper 7

 

Awards and distinction

Settembre 2013: first best poster award per il progetto dal titolo “What we don’t know about the genetic basis of Brugada Syndrome”

 

Maggio 2013: nomina come “full member young scientist” del gruppo di lavoro del EFLM (European Federation of clinical chemistry and laboratory medicine) sulla medicina personalizzata di laboratorio personalized laboratory medicine

 

Giugno 2008 -Settembre 2008: borsa di studio dal progetto “LaborLab” by Regione Lombardia

Gennaio 2007 -Novembre 2007: borsa di studio da “Sovvenzione Globale INGENIO-LOMBARDIA”, Regione Lombardia

Ottobre 2005: Premio Telethon per gli studi sulla subunità alfa2 del recettore nicotinico neuronale associate ad epilessia neuronale

Pubblicazioni

• Irene Mancini, Pamela Pinzani, Lisa Simi, Ivan Brandslund,*, Pieter Vermeersch,

Chiara Di Resta, Matthias Schwab, Janja Marc, Ron van Schaik, Mario Pazzagli. Implementation of a companion diagnostics in clinical laboratories: the BRAF example in Melanoma.

Drug Metabol Personal Ther. 2015 Jun; 30 (2):121-8

 

• Irene Mancini, Pamela Pinzani, Lisa Simi, Ivan Brandslund,*, Pieter Vermeersch,

Chiara Di Resta, Matthias Schwab, Janja Marc, Ron van Schaik, Mario Pazzagli. Implementation of a companion diagnostics in clinical laboratories: the BRAF example in Melanoma.

Clin Chem Lab Med.2015 Jun; 53 (7): 981-8

 

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Identification of candidate genes for Brugada Syndrome by targeted next generation sequencing.

Hum Mol Genet.2015 Oct 15; 24 (20):5828-35

 

• Chiara Di Resta, Martina Manzoni, Massimo Zoni Berisso, Gabriele Siciliano, Sara Benedetti, Maurizio Ferrari. Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. Clin Chim Acta. 2014 Sep 25;436:276-82

 

• Chiara Di Resta and Andrea Becchetti

Effect of Carbamazepine and Related Compounds on Ligand-Gated Channels: Possible Implications for Synaptic Transmission and Side Effects.

Nova publishers,4^th quarter, 2013, ISBN:978-1-62948-048-0. At press

 

• Larry Kricka and Chiara Di Resta

Translating genes into health.

Nat. Genet. 2013 Jan;45(1):4-5

 

• Elena Sommaria, Carlo Pappone, Filippo Martinelli Boneschi, Chiara Di Resta, Maria Rosaria Carbone, Erika Salvi, Pasquale Vergara, Simone Sala, Daniele Cusi, Maurizio Ferrari, Sara Benedetti

Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification.

Eur J Hum Genet. 2013 Sep;21(9):911-7

 

• Chiara Di Resta, Stefano Marangoni, Marcella Rocchetti, Lucio Barile, Riccardo Rizzetto, Aurora Summa, Stefano Severi, Elena Sommariva, Carlo Pappone, Maurizio Ferrari, Sara Benedetti, Antonio Zaza

A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Cardiovasc. Res. 2011, Sep1; vol.91(4) pp.606-16

 

• Chiara Di Resta, Paola Ambrosi, Giulia Curia, Andrea Becchetti

Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic

acetylcholine receptors linked to nocturnal frontal lobe epilepsy.

Eur J Pharmacol. 2010 Sep 15;643(1):13-20

 

• Chiara Di Resta, Andrea Becchetti

Introduction to Ion Channels

Adv Exp Med Biol, 674:9-21, 2010

Advance access published in 2008 (www.landesbioscience.com/curie/4009)

 

• Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari

Increased Sensitivity of the Neuronal Nicotinic Receptor a2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear   

Am.J.Hum.Genet., 2006, 79:342-350

 

 

Abstracts

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca DE Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Exome sequencing allowe identifying a new candidate gene for an ambiguous arrhythmic phenotype. OSR DGCB retreat, Arona September 2015

 

• Giovanni Peretto, Sara Benedetti, Chiara Di Resta, Simone Sala, Maurizio Ferrari, Paolo Della Bella

Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study

ESC, London 2015

 

• Giovanni Peretto, Chiara Di Resta, Sara Benedetti, Simone Sala, Maurizio Ferrari, Paolo Della Bella

Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction

ESC, London 2015

 

• Chiara Di Resta, Simone Sala, Stefano C. Previtali, Gianpaolo Zerbini, Dejan Lazarevic, Paolo Della Bella, Maurizio Ferrari, Sara Benedetti

Clinical and genetic characterization of a cohort of patients affected by laminopathies: a 5 years study.

Euromedlab, Parigi May 2015

 

• Janja Marc, Ron van Schaik, Mathias Schwab, Ivan Brandslund, Chiara Di Resta, Pieter Vermeersch, Mario Pazzagli

Pharmacogenomics in personalized laboratory medicine, a new opportunity for more effective and safer treatment.

21th Meeting of Slovenian and Croatian Societies of Clinical Chemistry and Laboratory Medicine, Zagreb, Croatia, 2014

 

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Identification of candidate genes for Brugada Syndrome by targeted next generation sequencing. ESHG, Milan 2014

 

• Chiara Di Resta, Alessandro Pietrelli, Roberta Bordoni, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Sara Benedetti, Maurizio Ferrari.

What we don’t know about the genetic basis of Brugada Syndrome.

ESPT, Lisbon 2013

 

• Roberta Bordoni, Alessandro Pietrelli, Chiara Di Resta, Simone Sala, Paolo Della Bella, Sara Benedetti, Maurizio Ferrari, Gianluca De Bellis

Understanding genetics of Brugada Syndrome: NGS leads the charge

ESHG, Paris 2013

 

• Chiara Di Resta, Alessia Mongelli, Simone Sala, Paolo Della Bella, Maurizio Ferrari, Sara Benedetti.

Screening for large genomic rearrangements using MLPA in a cohort of 102 Brugada patients.

Euromedlab, Milan 2013

 

• Chiara Di Resta, M. Manzoni, S. Benedetti, M. Ferrari.

Evaluation of damaging effects of splicing mutations: validation of a method useful to diagnostic laboratories.

EUSPM, Riolo Terme, 2013

 

• Nilo Riva, Marina Scarlato, Stefania Scarlino, Roberto Del Bo, Giacomo Comi, Massimo Corbo, Silvana Penco, Maurizio Ferrari, Chiara Di Resta, Luigi M Grimaldi, Giancarlo Comi, Eduardo Nobile-Orazio, Maria Giovanna Marrosu, Ubaldo Del Carro, Simonetta Gerevini, Raffaella Fazio, Angelo Quattrini, Alessandra Bolino, Stefano C. Previtali

Clinical and molecular characterization of a cohort of patients with distal motor neuropathy

Meeting of the Italian Association to the study of Peripheral Nervous system, 2013

 

• Di Resta C., Pietrelli A., Bordoni R., Sala S., Mongelli A., De Bellis G., Ferrari M., Benedetti S.

Search of new candidate genes in Brugada syndrome using Next-Generation Sequencing

Golden Helix Symposia, Torino 2012

 

• Di Resta C., Sommariva E., Carbone M.R., Martinelli Boneschi F., Sala S., Vergara P., Salvi E., Zuffada F., Cusi D., Macciardi F., Pappone C., Ferrari M., Benedetti S.

Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification

EUSPM, Berlin 2011

 

14)     Becchetti A., Di Resta C., Ambrosi P.

Effect of Carbamazepine-Related Compounds on Neuronal Nicotinic Receptors Containing or not Mutant Subunits Linked to Sleep-Related Epilepsy

NeuroTalk 2010, Singapore Expo 2010

15)     Di Resta C, Marangoni S, Sommariva E, Redaelli C, Sacco F.M, Sala S, Ferrari M, Zaza A, Benedetti S, Pappone C

Can the S216L mutation of the cardiac sodium channel lead to a Brugada phenotype?

SIGU 2009, Torino, November 2009

 

16)     Di Resta C, Ambrosi P, Becchetti A.

Caratterizzazione elettrofisiologica del recettore nicotinico a2I279N-b4, legato ad una forma di epilessia notturna (ADNFLE)

II meeting of graduated students in Physiology, Bertinoro (FC), June 2008

 

17)       Di Resta C, Ambrosi P., Morini R

Electrophysiological properties of mutant α2β4 nAChR linked to a form of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

SINS 2007, Verona, September 2007

 

18)       Marini C, Aridon P, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G.

Increased Sensitivity of the alpha-2 Neuronal Nicotinic Receptor Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear.

Epilepsia 47:369,2006.

 

19)     Di Resta C, Taiana M, Aridon P, Casari G, Becchetti A.

Alpha2-I279N human nicotinic acetylcholine receptor, linked to a form of nocturnal epilepsy, presents higher sensitivity to agonists

Acta Physiologica 108 (Suppl.652):19, 2006

20)       Politi F, Di Resta C, Consonni S, Amadeo A, Becchetti A.

Human neuronal nicotinic receptors and epilepsy during sleep.

Acta Physiologica 108 (Suppl.652):134, 2006

 

Oral communications:

 

Invited speaker at course: “GENOMIC TECHNOLOGIES AND EVIDENCE BASED LABORATORY MEDICINE: ARE WE READY FOR A CLINICAL GOVERNANCE IN PERSONALIZED MEDICINE?” Rome, next April, 2014

High throughput sequencing genetic studies and advanced functional analysis of Brugada Syndrome patients

 

EUROMEDLAB, Milan, May 2013

What we don’t know about genetic basis of Brugada Syndrome

 

EUSPM (European Society of Predictive Medicine), Riolo Terme (RA), March 2013

A pilot model for risk stratification of Brugada patients based on genotype

 

EUSPM (European Society of Predictive Medicine), Berlin, May 2011

Genetics can contribute to the prognosis of the Brugada Syndrome: a pilot model for risk stratification

Birthday: Monza, January 18^th, 1981

Nationality: Italian
Skills

Fields

Electrophysiology, genetics, molecular and cellular biology

 

Methods

Patch-clamp technique in cells or in brain slices using

The whole-cell configuration (voltage e current clamp)
Single-channel configuration (cell-attached and out-side out)

Use of optical microscope

 

Extraction of DNA from human blood using automated extractor or phenol-chloroform method

Extraction of RNA from Lymphocytes using Trizol method

PCR and RT-PCR

DHPLC

MLPA (multiplex ligation-dependent probe amplification)

Sanger sequencing (ABI 3730, Applied Biosystem)

Next-generation sequencing: Agilent and Illumina protocols for exome sequencing; targeted panel sequencing; Illumina platform (GA_IIx) for sequencing

 

Western-blot

 

Site-directed mutagenesis

Cloning of genes into expression vectors

 

Maintenance of primary cultures (neurons dissociated by brain slice of mice) and immortalized cells (HEK 293, SY5Y, F11, CHO)

Transient transfection of eukaryotic cells using Ca²⁺-Phosphate method, Lipofectamine and FUGENE

Use of animal models (rat, mice, guinea pig)

 

Organizational know-how and personal skills

I have focused my studies on clinical and translational medicine.

During my thesis and PhD course I focused my research activity on cellular electrophysiology at University of Milano-Bicocca. In this period I studied the biophysical effect of a genetic mutation in a neuronal nicotinic receptor, associated to inherited infant epilepsy, improving my knowledge of the physiological function of ligand-gated ion channels.

After that I have continued my studies in the field of channelopathies at University Vita-Salute San Raffaele and now I am studying several forms of hereditary arrhythmogenic diseases and their genetic basis, such as Brugada syndrome and Long Qt Syndrome.

Indeed my project is focused on the detection of new causative mutations associated to these pathologies on new candidate genes mostly encoding for cardiac voltage-gated channels, using Sanger sequencing and next generation sequencing.

I have learnt to plan independently the experiments and to perform autonomously the data analysis. I have prepared communications at congress (posters and oral presentations), papers and grants. In 2006 I did a practical course for students of degree course of Biological Science at University of Milano-Bicocca; I have been tutor for several trainees in laboratory. I have a close collaboration with the clinicians of the arrhytmology unit of San Raffaele Hospital, doing often genetics counselling for our patients enrolled in our study.

From 2012 I am university course teacher of Biological Science at degree course of Physiotherapy at Vita-Salute San Raffaele University. In my work I want to share my knowhow in a cooperative research team, to improve my knowledge in the translational medicine and to work in a stimulating group.

 

Education

November 2015

Researcher in Clinical Pathology (Med/05), Università Vita-Salute San Raffaele, Milano

June 2011-today

Specialty school in Clinical Pathology (5 years), Università degli Studi di Pavia

November 2008- today

Post doctoral position at Genomic Unit for the Diagnosis of Human Pathologies, Centre for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute.

November 2008

PhD in Translational and Molecular Medicine- in laboratory of cellular neurophysiology, University of Milano-Bicocca

January 2007

National License to practice biology –University of Insubria                                                  

October 2005

Graduated in Biological Science-University of Milano-Bicocca – Final evaluation: 108/110

July 2000

Classical Lyceum “E.Majorana”, Desio –Milano

 

Professional experiences:

May 2013: appointment as full member young scientist of the EFLM (European Federation of clinical chemistry and laboratory medicine) working group of personalized laboratory medicine.

 

October 2012–today: university course teacher of Biological Science at degree course of Physiotherapy at Vita-Salute San Raffaele University

 

November 2008-today: I work in the laboratory directed by Prof. M. Ferrari at Genomic Unit for the Diagnosis of Human Pathologies, Centre for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute.

 

My research projects are focused on the hereditary arrhythmogenic diseases and cardiomiopathy that can lead sudden death in young asymptomatic adults.

In my study I am trying to highlight a correlation between the presence of genetic variants with increased arrhythmic risk for our patients to obtain an useful method to integrate genetic data with clinical variables to improve risk stratification and management of patients. In my research project I aimed at identifying new causative genes involved in this genetically heterogeneous pathologies, exploiting next generation sequencing. I also studied a new mutation identified in our patient in the causative gene of Brugada syndrome and we have evaluated the effect of mutation on biophysical properties of cardiac action potential in collaboration with a laboratory of cardiac physiology at University of Milano-Bicocca. Now we are performing the functional characterization of other causative mutation of Brugada Syndrome in iPS. I am now performing exome study of families with a rare arrhythmogenic phenotype to identify the causative genetic mutation using Next generation sequencing.

 

November 2005-November 2008: PhD student of DIMET (PhD program in Translational and Molecular Medicine) in laboratory of cellular physiology of central nervous system at the University of Milano-Bicocca. Tutor: Prof. Andrea Becchetti.

 

My PhD research project was focused on the study of the efficacy and the possible side effects of antiepileptic drugs (such as Carbamazepine and Oxcarbazepine) used in patients with a form of nocturnal epilepsy. I have tested these drugs in vitro on immortalized human cells.

 

September 2004 – October 2005: thesis in the laboratory of cellular physiology of central nervous system at University of Milano-Bicocca. Tutor: Prof. Andrea Becchetti.

 

In this period I have done studies in vitro using the patch clamp technique to understand the effects of the first causative mutation identified in the gene coding for alfa2 subunit of the neuronal nicotinic receptor, linked to a form of ADNFLE (autosomal dominant nocturnal frontal lobe epilepsy). This project was in collaboration with Prof. G. Casari (San Raffaele Institute) for the genetic aspects of the project.

 

Other skills and activities

 

Other language known: English

 

Computing: Mac OS X, Windows XP, Pacchetto Office (Excel, Word, Power point), Origin, Axon Laboratory, pClamp, Internet explorer, Coreldraw, Acrobat reader, Sequencher, Oligo 7, Gene Mapper 7

 

Awards and distinction

September 2013: first best poster award for the project entitled “What we don’t know about the genetic basis of Brugada Syndrome”

 

May 2013: appointment as full member young scientist of the EFLM (European Federation of clinical chemistry and laboratory medicine) working group of personalized laboratory medicine

 

June 2008-September 2008: fellowship from the project “LaborLab” by Regione Lombardia

January 2007-November 2007: fellowship from “Sovvenzione Globale INGENIO-LOMBARDIA”, Regione Lombardia

October 2005: Awards from Telethon for the studies on neuronal nicotinic receptor a2 subunit associated to familial epilepsy

 

Publications:

• Irene Mancini, Pamela Pinzani, Lisa Simi, Ivan Brandslund,*, Pieter Vermeersch,

Chiara Di Resta, Matthias Schwab, Janja Marc, Ron van Schaik, Mario Pazzagli. Implementation of a companion diagnostics in clinical laboratories: the BRAF example in Melanoma.

Drug Metabol Personal Ther. 2015 Jun; 30 (2):121-8

 

• Irene Mancini, Pamela Pinzani, Lisa Simi, Ivan Brandslund,*, Pieter Vermeersch,

Chiara Di Resta, Matthias Schwab, Janja Marc, Ron van Schaik, Mario Pazzagli. Implementation of a companion diagnostics in clinical laboratories: the BRAF example in Melanoma.

Clin Chem Lab Med.2015 Jun; 53 (7): 981-8

 

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Identification of candidate genes for Brugada Syndrome by targeted next generation sequencing.

Hum Mol Genet.2015 Oct 15; 24 (20):5828-35

 

• Chiara Di Resta, Martina Manzoni, Massimo Zoni Berisso, Gabriele Siciliano, Sara Benedetti, Maurizio Ferrari. Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. Clin Chim Acta. 2014 Sep 25;436:276-82

 

• Chiara Di Resta and Andrea Becchetti

Effect of Carbamazepine and Related Compounds on Ligand-Gated Channels: Possible Implications for Synaptic Transmission and Side Effects.

Nova publishers,4^th quarter, 2013, ISBN:978-1-62948-048-0. At press

 

• Larry Kricka and Chiara Di Resta

Translating genes into health.

Nat. Genet. 2013 Jan;45(1):4-5

 

• Elena Sommaria, Carlo Pappone, Filippo Martinelli Boneschi, Chiara Di Resta, Maria Rosaria Carbone, Erika Salvi, Pasquale Vergara, Simone Sala, Daniele Cusi, Maurizio Ferrari, Sara Benedetti

Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification.

Eur J Hum Genet. 2013 Sep;21(9):911-7

 

• Chiara Di Resta, Stefano Marangoni, Marcella Rocchetti, Lucio Barile, Riccardo Rizzetto, Aurora Summa, Stefano Severi, Elena Sommariva, Carlo Pappone, Maurizio Ferrari, Sara Benedetti, Antonio Zaza

A Brugada Syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Cardiovasc. Res. 2011, Sep1; vol.91(4) pp.606-16

 

• Chiara Di Resta, Paola Ambrosi, Giulia Curia, Andrea Becchetti

Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic

acetylcholine receptors linked to nocturnal frontal lobe epilepsy.

Eur J Pharmacol. 2010 Sep 15;643(1):13-20

 

• Chiara Di Resta, Andrea Becchetti

Introduction to Ion Channels

Adv Exp Med Biol, 674:9-21, 2010

Advance access published in 2008 (www.landesbioscience.com/curie/4009)

 

• Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari

Increased Sensitivity of the Neuronal Nicotinic Receptor a2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear   

Am.J.Hum.Genet., 2006, 79:342-350

 

Abstracts

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca DE Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Exome sequencing allowe identifying a new candidate gene for an ambiguous arrhythmic phenotype. OSR DGCB retreat, Arona September 2015

 

• Giovanni Peretto, Sara Benedetti, Chiara Di Resta, Simone Sala, Maurizio Ferrari, Paolo Della Bella

Cardiac magneti resonance and arrhythmic risk stratification of cardiomyopathy associated with lamin A/C mutations: results from a 5 years study

ESC, London 2015

 

• Giovanni Peretto, Chiara Di Resta, Sara Benedetti, Simone Sala, Maurizio Ferrari, Paolo Della Bella

Premature cardiac senescence in patients with lamin A/C mutations: at least 5 years gap from electrical to mechanical dysfunction

ESC, London 2015

 

• Chiara Di Resta, Simone Sala, Stefano C. Previtali, Gianpaolo Zerbini, Dejan Lazarevic, Paolo Della Bella, Maurizio Ferrari, Sara Benedetti

Clinical and genetic characterization of a cohort of patients affected by laminopathies: a 5 years study.

Euromedlab, Parigi May 2015

 

• Janja Marc, Ron van Schaik, Mathias Schwab, Ivan Brandslund, Chiara Di Resta, Pieter Vermeersch, Mario Pazzagli

Pharmacogenomics in personalized laboratory medicine, a new opportunity for more effective and safer treatment.

21th Meeting of Slovenian and Croatian Societies of Clinical Chemistry and Laboratory Medicine, Zagreb, Croatia, 2014

 

• Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Maurizio Ferrari, Roberta Bordoni and Sara Benedetti

Identification of candidate genes for Brugada Syndrome by targeted next generation sequencing. ESHG, Milan 2014

 

• Chiara Di Resta, Alessandro Pietrelli, Roberta Bordoni, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Sara Benedetti, Maurizio Ferrari.

What we don’t know about the genetic basis of Brugada Syndrome.

ESPT, Lisbon 2013

 

• Roberta Bordoni, Alessandro Pietrelli, Chiara Di Resta, Simone Sala, Paolo Della Bella, Sara Benedetti, Maurizio Ferrari, Gianluca De Bellis

Understanding genetics of Brugada Syndrome: NGS leads the charge

ESHG, Paris 2013

 

• Chiara Di Resta, Alessia Mongelli, Simone Sala, Paolo Della Bella, Maurizio Ferrari, Sara Benedetti.

Screening for large genomic rearrangements using MLPA in a cohort of 102 Brugada patients.

Euromedlab, Milan 2013

 

• Chiara Di Resta, M. Manzoni, S. Benedetti, M. Ferrari.

Evaluation of damaging effects of splicing mutations: validation of a method useful to diagnostic laboratories.

EUSPM, Riolo Terme, 2013

 

• Nilo Riva, Marina Scarlato, Stefania Scarlino, Roberto Del Bo, Giacomo Comi, Massimo Corbo, Silvana Penco, Maurizio Ferrari, Chiara Di Resta, Luigi M Grimaldi, Giancarlo Comi, Eduardo Nobile-Orazio, Maria Giovanna Marrosu, Ubaldo Del Carro, Simonetta Gerevini, Raffaella Fazio, Angelo Quattrini, Alessandra Bolino, Stefano C. Previtali

Clinical and molecular characterization of a cohort of patients with distal motor neuropathy

Meeting of the Italian Association to the study of Peripheral Nervous system, 2013

 

• Di Resta C., Pietrelli A., Bordoni R., Sala S., Mongelli A., De Bellis G., Ferrari M., Benedetti S.

Search of new candidate genes in Brugada syndrome using Next-Generation Sequencing

Golden Helix Symposia, Torino 2012

 

• Di Resta C., Sommariva E., Carbone M.R., Martinelli Boneschi F., Sala S., Vergara P., Salvi E., Zuffada F., Cusi D., Macciardi F., Pappone C., Ferrari M., Benedetti S.

Genetics can contribute to the prognosis of the Brugada syndrome: a pilot model for risk stratification

EUSPM, Berlin 2011

 

14)     Becchetti A., Di Resta C., Ambrosi P.

Effect of Carbamazepine-Related Compounds on Neuronal Nicotinic Receptors Containing or not Mutant Subunits Linked to Sleep-Related Epilepsy

NeuroTalk 2010, Singapore Expo 2010

 

15)     Di Resta C, Marangoni S, Sommariva E, Redaelli C, Sacco F.M, Sala S, Ferrari M, Zaza A, Benedetti S, Pappone C

Can the S216L mutation of the cardiac sodium channel lead to a Brugada phenotype?

SIGU 2009, Torino, November 2009

 

16)     Di Resta C, Ambrosi P, Becchetti A.

Caratterizzazione elettrofisiologica del recettore nicotinico a2I279N-b4, legato ad una forma di epilessia notturna (ADNFLE)

II meeting of graduated students in Physiology, Bertinoro (FC), June 2008

 

17)       Di Resta C, Ambrosi P., Morini R

Electrophysiological properties of mutant α2β4 nAChR linked to a form of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

SINS 2007, Verona, September 2007

 

18)       Marini C, Aridon P, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G.

Increased Sensitivity of the alpha-2 Neuronal Nicotinic Receptor Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear.

Epilepsia 47:369,2006.

 

19)     Di Resta C, Taiana M, Aridon P, Casari G, Becchetti A.

Alpha2-I279N human nicotinic acetylcholine receptor, linked to a form of nocturnal epilepsy, presents higher sensitivity to agonists

Acta Physiologica 108 (Suppl.652):19, 2006

 

20)       Politi F, Di Resta C, Consonni S, Amadeo A, Becchetti A.

Human neuronal nicotinic receptors and epilepsy during sleep.

Acta Physiologica 108 (Suppl.652):134, 2006

 

Oral communications:

Invited speaker at course: “GENOMIC TECHNOLOGIES AND EVIDENCE BASED LABORATORY MEDICINE: ARE WE READY FOR A CLINICAL GOVERNANCE IN PERSONALIZED MEDICINE?” Rome, next April, 2014

High throughput sequencing genetic studies and advanced functional analysis of Brugada Syndrome patients

 

EUROMEDLAB, Milan, May 2013

What we don’t know about genetic basis of Brugada Syndrome

 

EUSPM (European Society of Predictive Medicine), Riolo Terme (RA), March 2013

A pilot model for risk stratification of Brugada patients based on genotype

 

EUSPM (European Society of Predictive Medicine), Berlin, May 2011

Genetics can contribute to the prognosis of the Brugada Syndrome: a pilot model for risk stratification