Marc FERRE

Marc Ferré graduated in 2002 from a French Grande Ecole of Engineering ([ESEO](https://eseo.fr/)) and in December 2009 a PhD in Bioinformatics. Until August 2014, he was employed by the University Hospital of Angers (France) as bioinformatician through the formation of a national network coordinated by the French Department of Health (genetic study of neuromuscular and sensory pathologies, and mental retardation). He is currently Associate Professor in Molecular Biology and Bioinformatics at the Angers Medical School. He is also a staff-member to the research team Mitolab of the UMR CNRS 6015/INSERM 1083 — CNRS, The Centre National de la Recherche Scientifique (National Center for Scientific Research), is a government-funded research organization, under the administrative authority of France's Ministry of Research; INSERM, the *Institut national de la santé et de la recherche médicale* (French National Institute of Health and Medical Research), is a public scientific and technological institute which operates under the joint authority of the French Ministry of Health and French Ministry of Research. Research activity of Dr. Ferré has been conducted in the field of mitochondrial diseases. He began his career by studying in silico the human mitochondrial proteome and developing a bioinformatics research strategy to identify new mitochondrial proteins on the basis of their prokaryotic origin. In parallel to this overall strategy of screening, he focused on the study of the Opa1 protein, one of the proteins associated with dominant optic atrophy, which is involved in mitochondrial fusion. Opa1, a dynamin GTPase, is involved in the remodeling of the inner mitochondrial membrane, apoptosis, maintenance of mitochondrial DNA, and energy metabolism. He finally developed an international database listing the variations of Opa1 so as to characterize its mutational spectrum. This tool was used as a complement to a multicentric clinical study involving thousands of patients with optic neuropathy. His work has led to the development of novel bioinformatics tools that should contribute to a better understanding of mitochondrial pathophysiology. He is currently focused on three axes: (1) designing and the curating clinico-biological databases of genes involved in neuro-ophthalmological diseases (*ACO2, DNM1L, MFN2,* *NR2F1, OPA1, RTN4IP1, SPG7, SSBP1*), as a member of the Global Variome (ex-Human Variome Project) since 2012 and Clinical Genome Resource (ClinGen) since 2020; (2) exceeding the current reading limits of the human mitochondrial genome sequence, via an innovative technique in which the complete double-stranded mitochondrial DNA is read directly without DNA amplification or incorporation of nucleotides; (3) analyzing the big data generated by the two previous axes, by biostatistical methods, bioinformatics and artificial intelligence, towards a Molecular Medicine approach.