DONATE MAINS

brcThe DNA is extracted from patients who have neurosensory diseases, mainly retinal disorders, as well as control subjects (unaffected family members for monogentic diseases or examined controls for complex disorders).

Since its creation in 2007, DNA from human peripheral blood is extracted with a salting-out precipitation method and currently stored at the Institut de la Vision. Since 2012, the BRC NeuroSensCol has automated DNA extraction using the Autopure LS. The high quality of the DNA is ensured by a quality control testing.

The majority of blood samples are collected through the CIC1423 / Center for Rare Diseases Referet of the Quinze-Vingts hospital, a platform for precise retinal phenotyping. The BRC NeuroSensCol and the CIC1423 / Center for Rare Diseases make sure of the ethical compliance for the safety of the subjects.

DNA samples are stored in -80°C freezers with temperature monitoring. These DNA samples are included in various research projects at the Institut de la Vision, in university hospitals and research institutes in France and abroad. The high quality DNA is easily used for Sanger sequencing, Next Generation Sequencing (NGS), whole exome and whole genome sequencing as well as microarray analysis.

vignetteneurosenscol

The BRC NeuroSensCol is certified NF S 96-900.

The Catalog of the BRC NeuroSensCol is available on the i3-CRB website:
https://annuaire.i3crb.fr/crb/printcrb.php?lang=en&idcrb=52


DNA or service requests


DNA services request

 

 
 
 
 
 
 
 
 
 
 
 
 
 


Equipment

  • Autopure LS - QIAGEN
  • 3 freezers -86°C - LABOLOGIC

Action fields

  • Inherited Retinal Disease restricted to the retina or syndromic, progressive or stationary
  • Age-related Macular Degeneration (AMD)
  • Presbyacusis
  • Retinal vein occlusion

Publications

  • An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients - Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. - Eur J Hum Genet. 2016 Dec

  • Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness - Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium., Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. - Am J Hum Genet. 2016 May

  • Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation - Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. - Orphanet J Rare Dis. 2015 Jun

 


TEAM

isabelle 2

Isabelle Audo

aline

Aline Antonio

nobody f.original

Christelle Davrinche


Isabelle Audo
Chief operating officer

Email: isabelle.audo@inserm.fr

Aline Antonio
Technical manager

Email: aline.antonio@inserm.fr


Christelle Davrinche
Quality manager

Email: christelle.davrinche@inserm.fr