معرفی
Benedetta Ruzzenente is a researcher at Paris Descartes University working in Dr. RÖTIG's team, the "Genetics of Mitochondrial Diseases" group. She holds a PhD from the University of Padua and completed postdoctoral fellowships at Karolinska Institutet and Max Planck Institute. In 2017, she obtained her Habilitation à Diriger des Recherches (HDR) from Paris Descartes University.
Her educational background includes:
- PhD from University of Padua (Italy), focusing on regulation of mitochondrial and cytosolic deoxyribonucleotide pools
- Postdoctoral fellowship at Karolinska Institutet (Stockholm, Sweden)
- Postdoctoral fellowship at Max Planck Institute (Cologne, Germany), studying molecular mechanisms regulating mitochondrial gene expression using mouse genetics
Benedetta's research focuses on understanding the pathomechanism of mitochondrial diseases caused by defects in mitochondrial gene expression. She utilizes both mouse and cell models in her investigations and is actively developing treatments for these diseases. Her work spans multiple areas including mitochondrial RNA and protein maturation, mitochondrial diseases and interferon response, metabolic flux, gene therapy for leukemia, mtDNA segregation in embryo-fetal development, iron homeostasis in Friedreich's ataxia, and identification of genes by genomics and transcriptomics.
Analysis of her recent publications shows a consistent focus on mitochondrial ribosomal proteins and their role in genetic disorders. Her work bridges basic molecular biology with clinical applications, particularly in understanding how mutations in mitochondrial genes lead to specific disease phenotypes. The research spans from fundamental mechanisms of mitochondrial translation to clinical manifestations in patients.
She is part of the "Genetics of Mitochondrial Diseases" team which comprises 7 specialized groups:
- Maturation of mitochondrial RNA and proteins
- Mitochondrial diseases and interferon response
- Metabolic flux, gene therapy for leukemia
- mtDNA segregation in embryo-fetal development
- Iron homeostasis in Friedreich's ataxia
- Identification of genes by genomics and transcriptomics
- Reference Center for Mitochondrial Diseases (CARAMMEL)
