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Carlo Rivolta

Summary of qualifications

Medical geneticist, with specific expertise in the fields of genomics, large-scale experimental approaches, and Next-Generation Sequencing in relationship to ophthalmic conditions. Strong background and skills in bioinformatics,statistics, and computer programming, in addition to competences in molecular biology and classic human genetics.

Research interests:

Molecular genetics of hereditary retinal degenerations and genetic conditions with elevated allelic heterogeneity. Computational approaches to genomics of monogenic to complex diseases, with specific interest on quasi-Mendelian conditions, modifier genes, and oligogenic inheritance.


CV of Carlo Rivolta [pdf]

Carlo Rivolta


Institute of Molecular and Clinical Ophthalmology Basel (IOB)

University of Basel
Mittlere Strasse 91
4031 Basel

Phone: +41 61 265 92 14
Fax: +41 61 265 86 52
Email: carlo.rivolta[at]

Google Scholar ID: l1SIiG4AAAAJ
ORCID ID: 0000-0002-0733-9950

Short CV

1989 - 1994 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 – 1999 Ph.D. in Science (Molecular Genetics) cum laude (mention). University of  Lausanne
Postdoctoral training:
1999 - 2003 Postdoctoral fellowship in the group of Prof. Thaddeus Dryja at Harvard Medical School (Massachusetts Eye and Ear Infirmary). Boston, USA
Academic career:
2003 - 2004 Instructor (Junior Faculty) of the Medical School, Harvard
2004 - 2008 Junior Group Leader (Maître Assistant), University of Lausanne
2008 - present Tenured Group Leader (Maître d’Enseignement et de Recherche), Department of Medical Genetics, University of Lausanne
2012 Privat Dozent (University of Lausanne)
2017 - present Full Professor, Chair of Medical Genetics, Department of Genetics and Genome Biology, University
of Leicester, UK
2019 - present Full Professor, Chair of Ophthalmic Genetics, IOB and University of Basel

Formal Teaching (University of Lausanne):

2006 - 2007 Classes of "Medical Genetics", to medical students, 4th year
2009 - 2010 “Ocular Genetics”, Ph.D. program in Neurosciences
2010 - 2011 Course of Genomic Sequencing, Master MLS program
2007 - present "Human Molecular Genetics", Master MLS program
2010 - present "Human Molecular Genetics", Ph.D. (all UNIL's Ph.D. programs)
2012 - present “Write a review”, Master MLS program
2015 - present Course "Restore vision: from bench to bedside" (Genetics of retinal dystrophies module), to
all Ph.D. programs
2015 - present “Genes and vision”, to medical students, 4th year

Other duties


  • Ph.D. fellowship, FBM, member of the board (2006-present)
  • Member of the "Conseil de l'Ecole Doctorale", FBM (2009-2014)
  • Member of the "Bâtiment Bugnon 27" committee (2006-2010)
  • Member of the "Commission de la recherche", FBM (2009-2010)
  • UNIL representative for the SNF Div. 3 at SNF Research day (2006)
  • Departmental head for biosafety (2005-present)
  • Elected member of the Medicine and Biology Faculty Council (2013-present)


  • Principal investigator for Genetic Research Days (federal program for the education of the general public) (2007- present)
  • Member of the Forum Genforschung (FoGeFo), Swiss Academy of Sciences (SCNAT), Bern (2015-2016)
  • Member of the Working Group “Personalized Health” (FoGeFo, SCNAT), Bern (2016-present)


  • Member of the Leicester Precision Medicine Institute (LPMI) (2017-present)
  • Member of the Genomics England Clinical Interpretation Partnership (GeCIP, hearing and sight) (2018-present)

Further Activities and Details


  • Approximately 40 people so far, including M.Sc. students, M.D. students, Ph.D. students, and postdocs

Current lab:

  • Ten people: 5 Ph.D. students, 3 postdocs, 1 intern, 1 lab manager


  • 90 peer-reviewed articles, of which 36 during the last 5 years

Competitive extramural funding:

  • Approximately $ 8,800,000 as a group leader


  • 11,283 (4,683 during the last 5 years), as of September 2019.

Editorial and reviewing activities

  • Member of the Editorial Board of: Journal of Human Genetics (Nature PG), Vision (MDPI, Basel), Scientific Reports (Nature PG)
  • Reviewer for (Journals): Nature Genetics, American Journal of Human Genetics, Journal of Medical Genetics, BMC Medical Genetics, Human Molecular Genetics, Human Mutation, Journal of Clinical Investigations, Nature Biotechnology, Genetics in Medicine, European Journal of Medical Genetics, Nature Neuroscience, etc.
  • Reviewer for (Funding Bodies): The Wellcome Trust, Swiss National Science Foundation, Swiss League Against Cancer, Netherlands Organization for Health Research and Development, Agence Nationale de la Recherche (F),
    Czech Science Foundation, etc.


  • The Association for Research in Vision and Ophthalmology (ARVO),
  • Swiss Society of Ophthalmology (SSO),
  • Swiss Society of Medical Genetics (SSMG),
  • International Society for Eye Research (ISER),
  • the American Society of Human Genetics (ASHG),
  • the European Retinal Disease Consortium (ERDC),
  • National Center for Competences in Research (NCCR) RNA and disease

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