12:00 – 1:15 

Arrivals, Registration & Light lunch

1:15 – Concorde Room

Welcome to the Mitochondrial Disease Conference 2026

• Marco Marmotta, President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
• University of Pisa and AOUP Delegates
• Paula Morandi, International Mito Patients Delegate
• Olimpia Musumeci, Scientific Committee Delegate

The Voice of patients

• What Does Mitochondrial Disease Mean to Me – Stories from Mito Patients and Families

2:00 

Keynote Lecture Mechanisms for mtDNA transmission and relevance for human pathology

Nils-Göran Larsson, Karolinska Institute;

Introduction

Chair: Massimo Zeviani, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste

2:45 – 4:15 

Session 1 – Basic Science

Chairs: Valeria Tiranti, Fondazione IRCCS Istituto Neurologico Carlo Besta – Piero Santantonio, Mitocon

Speakers

• 2:45 New therapeutic approaches for mitochondrial myopathies – Carlo Viscomi, University of Padova
  Q&A
• 3:15 The SURF1 KO pig: A translational model to implement new therapeutic treatments for Leigh Syndrome – Dario Brunetti, Fondazione IRCCS Istituto Neurologico Carlo Besta
  Q&A
• 3:45 Restoring mitochondrial DNA metabolism and function – Antonella Spinazzola, University College London
  Q&A

4:15 

Poster Session with Coffee

5:00 – 6:30 

Session 2 – Clinical Updates

Chairs: Enrico Bertini, Bambino Gesù Children’s Research Hospital IRCCS, Roma – Paola Desideri Mitocon

Speakers

• 5:00 Mitochondrial Leukoencephalopathies: data from a multicentric observational Study – Anna Ardissone, Fondazione IRCCS Istituto Neurologico Carlo Besta
  Q&A
• 5:30 Sildenafil in Leigh syndrome: translational path from stem cells-based drug discovery to clinical trials, Alessandro Prigione, University of Dusseldorf
  Q&A
• 6.00 MELAS Management, Costanza Lamperti – Fondazione IRCCS Istituto Neurologico Carlo Besta
  Q&A

6:30 

Closing day 1

8:30 

Networking Dinner

8:15 

Arrivals & Registrations

8:30 – 10:10  Concorde Room

Session 3
Advances in Therapies

Chairs: Massimiliano Filosto, University of Brescia – Paula Morandi, Mitocon

Speakers

• 8:30 Advances in MNGIE –Ramon Marti, Vall d’ Hebron Research Institute and CIBERER, Universitat Autònoma de Barcelona, Barcelona.
  Q&A
• 9:00 Advances in Thymidine Kinase 2 Deficiency – Cristina Dominguez , ‘12 de Octubre’ Hospital Research Institute of Madrid
  Q&A
• 9:30 Mitochondrial Donation in Clinical Practice: insights from the UK Reproductive Care Pathway – Robert McFarland, Newcastle University
  Q&A

10:00 – 11:00 

Session 4: Young Investigator Session

Chairs: Carlo Viscomi, University of Padova – Francesca Latella, Mitocon

• 10:00 Flash Talk: Brain physiological transcriptomic architecture underpinnings of regional vulnerability to stroke-like lesions in MELAS – Matteo Azzimonti, IRCCS Fondazione Ca’ Granda Ospedale Maggiore Policlinico Milano
• 10:15 Flash Talk: Investigating LHON-Linked Mitochondrial and Synaptic Impairments in Human iPSC-Derived RGCs – Andrea Cavaliere, Fondazione IRCCS Istituto Neurologico Carlo Besta
• 10:30 Flash Talk: Modeling MT-ATP6 mitochondrial disease with patient-derived neuronal progenitor cells, Anna Maria Haschke – Charité-Universitätsmedizin Berlin
• 10:45 Flash Talk: hiPSC-derived microglia-like cells: establishing a model to study POLG-related mitochondrial disease, Piervito Lopriore, University of Pisa, Sant’Anna School of Advanced Studies

11:00 

Coffee Break

11:15 – 12:00 

Keynote Lecture: Gene therapies in PMDs

Carlos T. Moraes, University of Miami Miller School of Medicine

Introduction: Valeria Tiranti, Fondazione IRCCS Istituto Neurologico Carlo Besta

12:00 – 1:30 

Session 4: Collaboration Models to Accelerate Therapies — Pharma, Academia, Regulators and Patient’Organizations

Chair:s Michelangelo Mancuso, University of Pisa, Valerio Carelli, University of Bologna – Piero Santantonio, Mitocon

• Participants: Representatives from academia, industry, regulators foundations
• 1:15 Discussion

1:30 – 2:30 

Lunch Break

2:30 – 4:00 

Session 5: Clinical Registries as a tool for improving patient care and research

Chairs: Costanza Lamperti, Fondazione IRCCS Istituto Neurologico Carlo Besta – Thomas Klopstock, Ludwig-Maximilians-University of Munich – Piero Santantonio, Mitocon

Speakers

• 2:30 The Power of Collaboration: how the GENOMIT Registry enables Natural History Studies and advanced Genetics of Mitochondrial Diseases– Holger Prokisch, Helmholtz Zentrum, MunichQ&A
• 3:00 Insights from the Spanish Clinical Registry and Biobank – Marcello Bellusci, University Hospital “12 de Octubre” MadridQ&A
• 3:30 The Italian Clinical Registry for Mitochondrial Diseases: Insights from a National Experience – Michelangelo Mancuso, University of PisaQ&A

4:00 

Late Breaking News

Chairs: Serenella Servidei, Università Cattolica del Sacro Cuore Roma – Paola Desideri, Mitocon

• 4:00Spatial transcriptomics for mitochondrial myopathies: preliminary insights from the MitoMyOmics project – Vittoria Petruzzella, University of Bari Aldo Moro
• 4:20 RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis – Monika Olahova Winter, Newcastle University
• 4:40 Effects of a mitochondrial genetic variant on the neurotoxicity of sevoflurane – Julio Montoya, University of Zaragoza

5:00 

Coffee Break

5:15-5:45 

Closing Lecture

Management of Mitochondrial Optic Neuropathies: an overview
Valerio Carelli, University of Bologna

5:45 

Mito Awards

Chairs: Carlo Viscomi, University of Padova – Marco Marmotta, Mitocon

6:00 

Closing Remarks

Michelangelo Mancuso, University of Pisa

6:15 

Closing of the Mitochondrial Disease Conference 2026