The Biological Resource Centre (BRC) NeuroSensCol is specialized in collecting, extracting, storing and supplying high quality genomic DNA, for research. The BRC NeuroSensCol is also able to store and supply RNA and serum.
The biological resources are 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).
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.
Since its creation in 2007, DNA is extracted from human peripheral blood with a salting-out precipitation method. The high quality of the DNA is ensured by a quality control testing.
The biological resources are stored in -80°C freezers, with 24-hour temperature monitoring. The 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.
The BRC NeuroSensCol is certified ISO 9001 and NF S 96-900.
The BRC NeuroSensCol is IBiSA certified.
The BRC NeuroSensCol is located at the platform of biological resources of the hospital Pitié-Salpêtrière. This platform is a clustering of independant Biological Resources Centers, in one building dedicated only for human biological resources conservation.
Catalogue
Services
DNA or service requests
Equipment
- 4 freezers -80°C with 24h surveillance
Action fields
- Human neurosensory disorders
Publications
• Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy - Smirnov VM, Wilmet B, Nassisi M, Condroyer C, Antonio A, Andrieu C, Devisme C, Sancho S, Sahel JA, Zeitz C, Audo I. - Int J Mol Sci. 2022
• WDR34, a candidate gene for non-syndromic rod-cone dystrophy - Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C. - Clin Genet. 2021
• Phenotypic characteristics of rod-cone dystrophy associated with myo7a mutations in a large french cohort - Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I. - Retina. 2020
• 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
• Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease - Nassisi M, Mohand-Saïd S, Andrieu C, Antonio A, Condroyer C, Méjécase C, Varin J, Wohlschlegel J, Dhaenens CM, Sahel JA, Zeitz C, Audo I. - Int J Mol Sci. 2019
• Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies - Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Int J Mol Sci. 2019
• Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia - Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I. - Sci Rep. 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. 2016O
TEAM
Isabelle Audo
Chief Scientist and Chief operating officer
Aline Antonio
Technical manager
Email: aline.antonio@inserm.fr
Christelle Davrinche
Quality manager
Email: christelle.davrinche@inserm.fr