Carlo Rivolta

Carlo Rivolta obtained his PhD in Molecular Genetics at the University of Lausanne, Switzerland, and completed his postdoctoral training in the laboratory of Prof. Thaddeus Dryja at Harvard Medical School, USA.

He worked there for an additional year as an HMS Instructor, and then moved back to the University of Lausanne, at the Department of Medical Genetics.

He is now a full Professor for Ophthalmic Genetics at the Medical Faculty of the University of Basel, as well as Professor and Chair of Medical Genetics, Department of Genetics and Genome Biology, at the University of Leicester, UK.

Publications

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

NPJ Genom Med., 2025

Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Am J Hum Genet., 2025

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, Filip Van den Broeck, Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero, Gema García-García, David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths, Tobias B Haack, Julie Jacob, Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis, Andrew C Browning, Savita Madhusudhan, Lotta Gränse, Eyal Banin, Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli, Bart P Leroy, Omar A Mahroo, Fay Sedgwick, James Eden, Maximilian Pfau, Sten Andréasson, Hendrik P N Scholl, Carmen Ayuso, José M Millán, Dror Sharon, Miltiadis K Tsilimbaris, Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef, Elfride De Baere, Andrew R Webster, Gavin Arno, Panagiotis I Sergouniotis, Susanne Kohl, Cristina Santos, Carlo Rivolta

High-efficiency base editing in the retina in primates and human tissues

Nature Medicine, 2025

Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Pascal W Hasler, Lucas Janeschitz-Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Alberto Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre-Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Juna Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Therese Cronin, Simone Picelli, Alice Grison, Cameron S Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P N Scholl, David Bryson, Giuseppe Ciaramella, Botond Roska, Bence György

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Insights

April 15, 2025

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Institute of Molecular and Clinical Ophthalmology Basel

Publications

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

High-efficiency base editing in the retina in primates and human tissues

News & Insights

Uncovering the genetic roots of blindness: A landmark study in Pakistan

Three novel disease genes identified as drivers of a new form of hereditary retinal blindness

Rewriting genes to preserve eyesight

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