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Department of Medical Genetics

Our group is mainly interested in the molecular genetics of retinitis pigmentosa (RP) and other retinal degenerations, a group of genetic disorders that lead to progressive loss of sight and blindness and are mostly transmitted as Mendelian traits. A peculiar feature of RP is its extreme genetic and allelic heterogeneity. Specifically, hundreds of different mutations in a few dozen genes have been so far identified as causative elements for this condition. Within this subject, we are particularly interested in the study of PRPF genes, which, if mutated, cause autosomal dominant RP.

Our technical expertise encompasses all classical methods of genetic investigation, with particular emphasis to high-throughput techniques such as parallel genotyping and UHT DNA sequencing.

Methodology

  • All classical molecular genetics and molecular biology methods
  • Expression and genotyping microarrays
  • Ultra-high throughput sequencing

Scientific Cooperations

Group Leader

Carlo Rivolta
[more information]

Contact

University of Lausanne

Department of Medical Genetics

Rue du Bugnon 27
1005 Lausanne
Switzerland

Phone: +41-21-692-5451
Fax: +41-21-692-5455

Email:
carlo.rivolta[at]unil.ch

Website:
www.unil.ch/dgm

Current Research Projects

  • Project 1
    Molecular genetics of  PRPF mutations in retinitis pigmentosa
  • Project 2
    Ultra-high throughput sequencing of candidate genes for RP

Research Groups

People

Related Research Groups

gene/expression
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genetics
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retinal degenerations: hereditary
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retinitis pigmentosa
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splicing
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gene screening
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