Pierre Ray
Lab Director
Team Geentics Epigenetics and Therapies of Infertility
Institute for Advanced Biosciences
INSERM 1209
CNRS UMR 5309
Université Grenoble Alpes
Grenoble
France
Telephone: +33 476 765 573
Email: pray@chu-grenoble.fr
University URL: https://iab-grenoble.fr/fr/recherche/equipes/genetique-epigenetiques-et-therapies-de-linfertilite
Team Members
Université Grenoble Alpes
- Pierre Ray – Co-team leader – Clinical Professor
- Christophe Arnoult – Co-team leader – Senior Researcher
- Charles Coutton – Clinical Professor
- Sylviane Hennebicq – Clinical Professor
- Zine-Eddine Kherraf – Clinical Assistant Professor
- Jessica Escoffier – Researcher
- Véronique Loeillet – Researcher
- Véronique Satre – Clinical Assistant Professor
- Marie Bidart – Clinical Assistant Professor
- Guillaume Martinez – Research Engineer
- Magali Court – Research Engineer
- Emeline Lambert – Research Engineer
- Geneviève Chevalier – Research Technician
- In addition, on average 6 PhD students, 6 Master and 2 undergraduate students.
WORKING GROUP: CLINICS & GENOMICS
Improvement of and setting standards for clinical phenotyping, building structures to collect well-phenotyped patient groups, e.g. based on testicular histology.
The genomics and bioinformatics working group will focus on setting standards for performing, analyzing and sharing data from genomics studies.
Member Description
Professor Pierre Ray is a clinical professor with four main activities:
1) teaching and coordinating courses on genetics and reproduction
2) managing a diagnosis lab providing genetic diagnoses for male and female infertility
3) responsible for Grenoble pre-implantation genetic center
4) leading a large research group working on infertility
Our research team, Genetics Epigenetics and Therapies of Infertility (GETI) has been successfully developing research projects on infertility for over 15 years. We specialized on the genetics of male infertility and have identified or confirmed the pathogeny of more than 50 genes responsible for various anomalies of spermatogenesis such as macrospermia (publication of AURKC in 2007), globospermia (publication of DPY19L2 in 2011), azoospermia, or morphological defects of the flagella (MMAF phenotype and publication of DNAH1 in 2013). Interestingly, using KO mice as a model, we recently showed that sperm quality decreased proportionally to the number of heterozygous deleterious variants present in genes necessary for spermatogenesis suggesting that spermatogenesis defects of genetic origin probably do not all have a monogenic transmission.
Publications
Vilpreux C, et al. (2024) Sperm motility in mice with Oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA. eLife Reviewed Preprint.
Muroňová J, et al. (2024) Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. eLife 12:RP86845.
Coudert A, et al. (2023) Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters. J Genet Genomics 50(7):536-540.
Dacheux D, et al. (2023) Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. eLife 12:RP87698.
Martinez G, et al. (2022) Oligogenic heterozygous inheritance of sperm abnormalities in mouse. eLife 11:e75373.
Kherraf ZE, et al. (2022) Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia. Am J Hum Genet 109(3):508-517.
Celse T, et al. (2021) Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. Hum Genet 140(1):43-57.
Coutton C, et al. (2019) Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Am J Hum Genet 104(2):331-340.
Coutton C, et al. (2018) Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Comms 9(1):686.
Kherraf ZE, et al. (2018) A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. Am J Hum Genet 103(3):400-412.
Christou-Kent M, et al. (2018) PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice. EMBO Mol Med, 2018, 10:52.
Kherraf Z-E, et al. (2014) SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. EMBO Mol Med 9(8):1132–49.
Ben Khelifa M, et al. (2014) Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 94:95-104.
Harbuz R, et al. (2011) A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation. Am J Hum Genet 88(3):351–61.
Dieterich K, et al. (2007) Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 39:661-5.
Funding
2021-2025 ANR LIVE3D CNN – Partner – Total: 590k € / Allocated to team 310k €
Combination of 3D holographic video microscopy and convolutional neural networks to identify novel markers of preimplantation embryonic health.
2019-2024 ANR FLAGEL-OME – Coordinator – Total: 790k € / Allocated to team 323k €
Fundamental, genetic and clinical aspects of male infertility due to severe sperm flagellar abnormalities.
2014-2019 ANR MAS-FLAGELLA – Coordinator – Total: 690k € / Allocated to team 570k €
Genetics and Pathophysiology of Morphological Abnormalities of the Sperm Flagellum Associate with Human Male Infertility.
2021-2025 ANR ICG2I – Coordinator – Total: 606k € / Allocated to team 606k €
Identification and characterization of genes involved in infertility.
Other Funding: ~200k €