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Carlo Rivolta

Short CV

1989-94 Master of Science (Molecular Biology). University of Pavia, Italy. Score: 110/110 cum laude
1997 Twelve-month postgraduate course in bioinformatics at the Swiss Federal
Institute of Technology Lausanne (EPFL)
1995–99 Ph.D. in Science (Molecular Genetics) cum laude (mention). University of  Lausanne
1999-2003 Postdoctoral fellowship in the group of Prof. Thaddeus Dryja at Harvard Medical School (Massachusetts Eye and Ear Infirmary). Boston, USA
Positions held
1994-1998 Collaborateur Scientifique (OFES), University of Lausanne
2003-2004 Instructor of the Medical School, Harvard
2004–2008 Junior Group Leader (Maître Assistant), University of Lausanne
Since 2008 Tenured Group Leader (Maître d’Enseignement et de Recherche), Department of Medical Genetics, University of Lausanne


CV of Carlo Rivolta [pdf]

Scientifc Interest

  • Molecular genetics of hereditary retinal diseases

Further Activities

  • Teaching genetics at various Swiss programs for general public education


  • Comité "Génie génétique, un don de la nature"
  • Association for Research in Vision and Ophthalmology (ARVO)
  • American Society of Human Genetics
  • Swiss Society of Medical Genetics
  • Swiss Society of Ophthalmology
Carlo Rivolta
Carlo Rivolta

Research Group

Department of Medical Genetics


University of Lausanne

Department of Medical Genetics

Rue du Bugnon 27
1005 Lausanne

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



Key Publications

  1. Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL and Rivolta C (2011).
    A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal dominant retinitis pigmentosa.
    Am J Hum Genet 88:643-649. 
  2. Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL and Rivolta C (2011).
    Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
    Hum Mutat 32:2246-2258. 
  3. Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B and Rivolta C (2011).
    PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
    Hum Mol Genet 20:2116-21130. 
  4. Benaglio P and Rivolta C (2010).
    Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
    PLoS ONE. 5: e13071. 
  5. Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A and Rivolta C (2010).
    Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
    Am J Hum Genet. 87: 376-381. 
  6. Rio Frio T, Civic N, Ransijn A, Beckmann JS and Rivolta C (2008).
    Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
    Hum Mol Genet. 17: 3154-3165. 
  7. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS and Rivolta C (2008).
    Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
    J Clin Invest. 118: 1519-1531. 
  8. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL and Dryja TP (2006).
    Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
    Hum Mutat. 27: 644-653.  
  9. Rivolta C, Sharon D, DeAngelis MM and Dryja TP (2002).
    Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
    Hum Mol Genet. 11: 1219-1227. (*equal contribution). 
  10. Rivolta C, Sweklo EA, Berson EL and Dryja TP (2000).
    Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
    Am J Hum Genet. 66: 1975-1978. Cited: 89 times. 


Research Groups