June 15th, 2023

Patrick Yu-Wai-Man

15:00 – 15:15

The new landscape of mitochondrial optic neuropathies – from genes to phenotypes

Professor Yu-Wai-Man is an academic neuro-ophthalmologist with a major research interest in mitochondrial genetics and inherited eye diseases. He holds a tenured Faculty position as Professor of Ophthalmology at the University of Cambridge. His group is exploring novel therapies for the inherited optic neuropathies, in particular gene therapy approaches for these blinding mitochondrial diseases.

Vania Broccoli

15:15 – 15:30

Modelling mitochondrial optic neuropathies in iPSCs

Marcela Votruba

15:30 – 15:45

What OPA1 mouse models teach us?

Marcela Votruba is a clinician scientist specialising in inherited eye disease of the retina and optic nerve, and her real-world practice includes the clinical and genetic diagnosis, management and treatment of patients with ADOA & LHON. Her academic interests focus on the pathophysiology of and therapeutic interventions in mitochondrial optic neuropathies. She conducts genetic, cell and molecular biology research and commercial and academic clinical trials. Marcela leads the Mitochondria & Vision Group (Cardiff University) and heads the All-Wales Ophthalmic Genetics service, University Hospital of Wales.

Piero Barboni

16:00 – 16:15

Natural history in LHON and DOA: the use of Optical Coherence Tomography

Piero Barboni earned an MD at the University of Bologna, Italy, where he completed his residency in Ophthalmology in 1990. Since 1987s he is devoting to the study of hereditary optic neuropathies, for which he collaborates with several international university-based centers as University of Bologna, University of South California, University of Sao Paulo, Brazil. These projects includes: The international research project on Leber Hereditary Optic Neuropathy in Brazil. Promoter of numerous projects and meetings in the neuro-ophthalmological area as: European Network on optic nerve degeneration (since 2016) and European Optic nerve Network (EUPON) meetings 4editions, ‘neuro-ophthalmology for everyone’ meeting 5edition.

Appointed professor at the Department of Neurological Science of Bologna University until 2011; currently, he is consultant neuro-ophthalmologist at Scientific Institute San Raffaele, University of Milan and works in private practice at Studio Oculistico d’Azeglio, Bologna, Italy

Sub investigator in many clinical trials: Idebenone therapy in LHON, gene therapy in LHON; currently he is focused in the imaging of the optic nerve and retinal ganglion cells and is involved in many projects about clinical characterization of hereditary optic neuropathy including LHON and LHON-like diseases as well as dominant and recessive optic atrophy.

Thomas Klopstock

16:15 – 16:30

Do we really understand LHON natural history? – relevance to therapeutic windows of opportunity

Long-standing clinical & scientific expertise in mitochondrial & other neurogenetic disorders. Speaker of German network for mitochondrial disorders (mitoNET). Ample experience in clinical trials in mitochondrial diseases, eg Leber Hereditary Optic Neuropathy. Author of >300 publications. Main goal is contributing to disease-modifying treatments of mitochondrial & other neurogenetic disorders.

David Manners

16:30 – 16:45

MRI, new approaches to explore the visual pathway

Prof. Manners is based at the Institute of Neurological Sciences of Bologna. His research interests are focussed on acquisition and analysis methods for brain and muscle MRI, particularly in neurodegeneration and mitochondrial disorders. His presentation will examine the use of tractography and functional MRI to study the pathological processes associated with mitochondrial optic neuropathies.

Guy Lenaers

17:00 – 17:15 

Preclinical stage for innovative therapies in DOA

Guy Lenaers is director of the MitoLab team at University of Angers. The team is dedicated to fundamental investigations on mitochondrial physiology and to a bed-to-bed continuum of investigations on inherited and common mitochondrial diseases, with the ultimate goal to provide new relevant treatments to the cohorts of patients that we recruit in the University Hospital of Angers. My talk will concern a novel gene therapy approach for a dominant mitochondrial optic neuropathy.

Chiara La Morgia

17:15 – 17:30

Deep phenotyping of disease history in LHON patients treated with gene therapy and co-administered idebenone

Dr Chiara La Morgia received her MD in 2002, completed residency in Neurology in 2008 and PhD in Sleep Medicine in 2012 at the University of Bologna. Since 2012 she had a research contract at the University of Bologna being now an Assistant Professor and full-employed Neuro-Ophthalmogist at the IRCCS Istituto delle Scienze Neurologiche di Bologna.

The major focus of research activity is on hereditary optic neuropathies and the evaluation of the melanopsin retinal ganglion cell system in relation to circadian photoreception in different neurodegenerative disorders. She is author of 145 papers in peer-reviewed journals and 7 book chapters.

The focus of the presentation will be on the clinical characterization of LHON patients treated with both idebenone and gene therapy.

Alessia Indrieri

17:30 – 17:45

A new therapeutic landscape to push mitochondrial biogenesis in LHON

Dr. Alessia Indrieri is Tenured Researcher at the Institute of Genetic and Biomedical Research, CNR, and Group Leader in the Molecular Therapy Program at the Telethon Institute of Genetics Medicine, Pozzuoli, Italy. The main interest of her lab is to develop and validate new therapeutic strategies enhancing mitochondrial turnover to treat mitochondrial diseases in a mutation-independent manner.