…TIMESLOT: Thursday 10 September 2026, 16:00 CEST
…MAIN TITLE: Anesthesia in Mitochondrial Diseases: Practical Challenges and Best Clinical Practices
…PRESENTERS: Dr.Costanza Lamperti, Fondazione IRCCS Istituto Neurologico “C. Besta”, Milan, Italy
…MODERATOR: TBA
Dr. Costanza Lamperti’s research focuses on the identification of new diseases genes and the description and characterization of patients and families carrying novel gene mutations, with a particular emphasis on genotype-phenotype correlations. As the head of the outpatient service for mitochondrial diseases (MD), she has managed over 400 affected patients. Over the years, through clinical evaluations using disease-specific scales, she has collected DNA, plasma, and fibroblast samples from these patients, amassing a biobank of more than 1,000 samples. She is also responsible for the Italian branch of the GENOMIT registry, which currently includes data on approximately 3,000 patients with mitochondrial diseases. As a member of the Steering Committee of the Italian patient association Mitocon, she serves as a crucial link between patients and scientists and has been actively involved in multiple natural history studies on mitochondrial disorders. She is part of international networks such as ERN-NMD and the Inter-ERN for Mitochondrial Diseases, participating in numerous consensus meetings aimed at establishing clinical guidelines for mitochondrial diseases. Since 2015, she has been a member of the GENOMIT consortium. Beyond her clinical expertise, she has always been actively involved in basic science. Her experience in myopathology, anatomical pathology, and biochemistry has enabled her to perform morphological and biochemical characterization of biomarkers in plasma and muscle tissues of MD patients, correlating them with clinical assessments and translating biochemical biomarkers into clinical practice.