Network

Italian Network for the prevalence study of Blue Cone Monochromacy and Acromatopsia

– The Network has been promoted by Prof. Francesca Simonelli with the Patient Association:

BCM Families
BCM Blue Cone Monochromacy
Contact: renata.sarno@hotmail.com
Acromati Italiani onlus
acromatopsiaContact: elisabettaluchetta@libero.it


– The Network collects the following institutes:

Name City Institute Position Email/Contacts
Dr. Maria Pia Manitto Milano Ospedale San Raffaele Responsabile Servizio di Genetica Oculare manitto.mariapia@hsr.it
dr. Francesco Parmeggiani Padova Ambulatorio Regionale Ipovisione UOA Oculistica del Presidio Ospedaliero di Camposanpiero USSL 15 Responsabile francesco.parmeggiani@unife.it
Prof. Emilio Campos Bologna Unità Oftalmica Sant’Orsola di Bologna – Università di Bologna Direttore emilio.campos@unibo.it
Tel 051-341450 / 051-300513
Via Bellacosta, 44 – Bologna
Dr. Andrea Sodi Firenze Azienda Ospedaliero-Universitaria Careggi CRR Degenerazioni Retiniche Ereditarie Medico Oculista asodi@tin.it
Dr. Francesca Torricelli Firenze Azienda Ospedaliero-Universitaria Careggi Direttore, SOD Diagnostica genetica genetica@aou-careggi.toscana.it

passerinii@aou-careggi.toscana.it

Dr. Roberto Caputo Firenze Azienda Ospedaliero Universitaria Meyer
Viale Pieraccini 24 50139 Firenze
Direttore Oftalmologia pediatrica www.meyer.it
Tel 055 5662526
roberto.caputo@meyer.it
Dr. Giacomo Maria Bacci Firenze Azienda Ospedaliero Universitaria Meyer
Viale Pieraccini 24 50139 Firenze
Oftalmologia Genetica www.meyer.it
Tel 055 5662900
giacomo.bacci@meyer.it
Prof. Alessandro Iannaccone Roma Meta Medica di Roma (dott.ssa Maria Laura Ciccarelli) e Duke Eye Center, Duke University, Durham, NC USA Director, Center for Retinal Degenerations and Ophthalmic Genetic Diseases alessandro.iannaccone@duke.edu
Tel +39 347 75 38 474
Via di Santa Costanza 21 – Roma
Prof. Benedetto Falsini Roma Università Cattolica del Sacro Cuore Responsabile dell’ambulatorio di degenerazioni retiniche ereditarie, del laboratorio di Neurofisiologia della visione e del centro di Neuroftalmologia pediatrica bfalsini@rm.unicatt.it
bfalsini@gmail.com
benedetto.falsini@nih.gov
Prof. Luca Buzzonetti Roma Ospedale Pediatrico Bambino Gesù Responsabile U.O.C. di Oculistica Ospedale Pediatrico Bambino Gesù lucabuzzonetti@yahoo.it
Dr. Giancarlo Iarossi Roma Ospedale Pediatrico Bambino Gesù Medico Oculista giancarlo.iarossi@libero.it
Lucia Ziccardi MD, PhD Roma Fondazione G. B. Bietti per l’oftalmologia
Via Livenza 3 – 00198 Roma
Ph. 06-85356727
Medico Oculista luxzic@hotmail.com
Prof. Enzo Maria Vingolo Latina Università di Terracina – UOC Universitaria AUSL Latina Ospedale Santa Maria Goretti Responsabile evingolo@libero.it
Prof.ssa Francesca Simonelli Napoli Dipartimento di Oftalmologia Seconda Università degli Studi di Napoli Direttore Centro Studi Retinopatie Ereditarie franctes@tin.it
Dr. Cristiana Marchese Torino Azienda Ospedaliera Ordine Mauriziano Torino Genetista Dirigente – S.C. Laboratorio Analisi cmarchese@mauriziano.it
cristianaalessandra.marchese@gmail.com
Dr. Roberto Giorda Bosisio-Parini LC Istituto Scientifico “Eugenio Medea” Biologo roberto.giorda@bp.lnf.it
Dr. Roberto Salati Bosisio-Parini LC Istituto Scientifico “Eugenio Medea” Oftalmologo roberto.salati@bp.lnf.it


– Documents, Resources, Publication

Blue Cone Monochromacy Achromatopsia
Clinical utility gene card for: Blue Cone Monochromatism

– Dr. C. Marchese, Scheda-Genetica-BCM

Clinical Findings in BCM-patients

Clinical utility gene card for: Achromatopsia

– Dr. C. Marchese, Scheda-Genetica-Acromatopsia

Achromatopsia – Gene Review

Blue Cone Monochromacy – Gene Therapy Achromatopsia – Gene Therapy
Human Gene Therapy for BCM

Molecular Genetics Project

-CNGA3 – Tubingen – Germany Gene Therapy clinical study

-CNGB3 Gene Therapy Clinical Trial – AAV Gene Therapy.

-NEI National Eye Institute – CNTF Implants for CNGB3 Achromatopsia.
A CNTF implant was placed into the eye during a simple surgery. The implant releases CNTF inside the eye, near the retina.


– DNA Test

Common Instructions:
For the DNA test usually a laboratory needs 2×5 ml of venous blood for each individual, drawn in EDTA containers, that should be shipped by courier. Blood samples can be drawn by a local practitioner. For preservation of the blood samples, it is recommended the shipment under cooled conditions. Easiest way for that is to use a regular foam box with some cool packs. Blood samples should not be frozen, therefore please wrap the blood containers in some tissue before adding them to the foam box. Please refer to ‘Special Instruction’ for each lab, you find in the column ‘Special Instruction and Form’ below.

With the blood samples it is usually requested that the following be sent: signed consent forms for each individual, copy of identity documents for each individual, Family’s Pedigree and to fill and sign other forms reported in the column ‘Special Instruction and Form’ below.

DNA TEST Clinical /
Research
BCM ACHR Contact Name Address where to ship Special instructions and Forms Price Time for the Answer
Tuebingen – DE Research yes yes Dr. Susan Kohl
Tel +49-7071-29-80702E-mail: susanne.kohl@uni-tuebingen.de
Dr.Susanne Kohl
Molekulargenetisches Labor
Universitätsklinikum Tübingen
Elfriede-Aulhorn-Str. 5-7
D-72076 Tübingen – Germany
Consent Form NA 3 months
Careggi – Firenze Clinical no yes Dott.ssa Ilaria Passerini
Biologo Genetista
Tel. +39-055-7949363
Email: passerinii@aou-careggi.toscana.it
Dott.ssa Ilaria Passerini
SOD Diagnostica Genetica
AOU Careggi – Piastra Dei Servizi-Padiglione 15
Largo Brambilla, 3 50134, Firenze
Careggi Istructions (IT)
Privacy (IT)
Consent Form (IT)
Patient data (IT)
Paid by SSN
MAGI – Rovereto Clinical yes yes Dr. Annalisa Nicoletti

Biologo Genetista

Ph: +39 0464/662771

Fax: +39 0464/425634

Email: annalisa.nicoletti@assomagi.org

Dr. Annalisa Nicoletti

MAGI’S Lab S.r.l. – Diagnostics for Rare Genetic Diseases

Via delle Maioliche 57/D, 38068 Rovereto (TN) – Italy

Instruction (IT)
Patient Form (IT)
Consent Form (IT)
Paid by SSN
Nijmegen – NL Clinical yes yes Erik-Jan Kamsteeg
Email: Erik-Jan.Kamsteeg@radboudumc.nl
Radboud University Nijmegen Medical Center
Department Human Genetics
Division Genome Diagnostics
Route 848
PO box 9101
6500 HB Nijmegen
The Netherlands
http://www.genomediagnosticsnijmegen.nl
Dr. Maartje Pennings
Accountmanager, lab. scientist
Genome Diagnostics Nijmegen
PO Box 9101
Nijmegen 6500 HB
Netherlands
Instructions
Consent Form
Price for BCM

Price for ACHR

4-6 weeks