IJM Seminar – Catherine André – 21/12/2023

IJM Seminar – Catherine André – 21/12/2023

Invited by par l’équipe Grange/Geigl, Catherine André (Institut de Génétique et développement de Rennes) will present the IJM seminar:

Spontaneous models of genetic diseases & cancers in dog breeds: interest to decipher the genetics of rare diseases


Dogs develop numerous genetic diseases, often breed-specific, due to the strong artificial selection applied by humans, likely for more than 20,000 years, and more strongly over the last 200 years, following the creation of breeds with widely varying phenotypes and aptitudes. Most of the dog’s known genetic diseases are identical to those of humans. While in humans the identification of genetic causes and therapeutic targets rare diseases, the dog represents a unique model, with its unique genetics (each of the 400 breeds is a genetic isolate). Moreover, it provides access to numerous samples facilitating the discovery of new genes and mechanisms involved in these rare diseases and cancers in humans.

Our research aims to identify the genetic basis of these diseases rare in humans, but very common in certain dog breeds. We have created the CRB Cani-DNA, containing over 30,000 dog DNA samples, available for biomedical research (https://igdr.univ-rennes.fr/centre-de-ressources-biologiques-crb-cani-dna). Working with dogs, as a natural model for genetic diseases, in an ethical approach, is an alternative to the use of experimental models, through access to samples taken by veterinary surgeons with the authorization of their owners. This approach serves both human and veterinary medicine, in a “One Health” context.

In this way, diseases are studied from the clinical, histological and epidemiological points of view in dogs that are already ill, allowing to establish homologies between the dogs and humans in collaboration between medical doctors, researchers and veterinarians. We then carry out genetic analyses to identify the genes involved, and then investigate whether the same genes are also involved in human patients with the same nosological entities. Since the sequencing of the entire “short read” genome of the first Boxer (Lindblad-toh et al., 2005), the genomes of several dog breeds have been sequenced in “short and long read”, as well as of 2,000 other dogs (Meadows et al., 2023). In our team, we have been working for over 10 years on various diseases or phenotypes: rare genetic diseases in dermatology (ichthyoses, keratodermas) (Grall et al., Nature genetics 2012; Plassais et al., J. Invest Dermatol, 2015), in neurology (peripheral neuropathies: Plassais et al., Plos Genet 2016, Corréard et al., 2019), and for rare cancers (histiocytic sarcoma, mucosal melanomas: Ulvé, Rault et al., Cancer genetics 2017; Prouteau et André., 2019; Hédan, Rault et al., Int J. Cancer 2020; Hédan et al., Plos Genet 2021, Prouteau et al., 2022). Several other projects are underway on epilepsy, neuropathies, retinitis pigmentosa, developmental anomalies (…). The power of genetic analyses in dogs is enabling advances in both human and veterinary medicine, through the development of genetic diagnostic or risk tests, and the identification of therapeutic targets common to humans and dogs.


The seminar will take place on Thursday 21st of December at 11 am in room François Jacob (15 rue Hélène Brion 75013 Paris).