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brclogo neurosenscolThe Biological Resource Centre (BRC) NeuroSensCol is specialized in collecting, extracting, storing and supplying for research, high quality genomic DNA. The BRC NeuroSensCol is located in the hospital Pitié Salpêtrière.


The DNA is extracted from patients who have neurosensory diseases, mainly retinal disorders, as well as control subjects (unaffected family members for monogenic 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. 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.

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The BRC NeuroSensCol is certified NF S 96-900.


Catalogue

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 Services

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DNA or service requests


DNA services request

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


Equipment

  • Autopure LS - QIAGEN
  • 4 freezers -80°C – Panasonic / 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

  • Outer retinal alterations associated with visual outcomes in Best vitelliform macular dystrophy - Augstburger E, Orès R, Mohand-Said S, Mrejen S, Keilani C, Antonio A, Condroyer C, Andrieu C, Sahel JA, Zeitz C, Audo I. - Am J Ophthalmol. 2019
     
  • Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort - Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I. - Int J Mol Sci. 2018

  • Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy - Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. - PLoS One. 2016

  • 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

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Aline Antonio

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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