Matei was born on August 5th 2018, being an extremely healthy child. He has had an exciting development period. From the newborn to an active toddler he reached all the milestones that a child is doing. He was laughing so much, and, he was enjoying so much making others laughing. Before choosing his name, we called him “Happy”.
Help raise awareness of the symptoms of TK2D by sharing our fantastic infographics. We’ve slightly updated these from 2023, so please do replace your older graphics with these ones.
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The results of the forums have been published in two reports (see links below). They captured the key discussions and provided people living with LHON the important opportunity to connect on critical issues, share experiences and make recommendations.
Theme: LHON & Gene Therapy: Where are we now?
Save the date for a free, interactive webinar discussing gene therapy and LHON.
Hear the latest from companies developing gene therapies for LHON, clinical experts and someone who has been part of a gene therapy clinical trial. And find out what you can do to ensure the voice of people living with LHON is heard!
Our webinar will be on 19 September 2024 from 13:00 – 15:00 CEST. To register your interest click on the link below.
Sara è giovane, ha 26 anni e vive a Padova insieme alla famiglia: i genitori e la sorella più piccola. Ha un’autonomia limitata nel camminare o nel fare qualsiasi attività fisica a causa di una malattia mitocondriale che la rende intollerante allo sforzo.
Tutto è iniziato il 17 dicembre del 2011, quando sono stata ricoverata d’urgenza per un’emergenza grave, il disseccamento della carotide. Sono stata in ospedale per tre mesi senza che però sia emerso il sospetto della mia malattia.
Margherita, 42 anni, ragioniera, lavorava in un negozio di arredamenti industriali. Ha smesso quando è arrivato Peppone, suo figlio, che lei racconta così: Peppone è bello come il sole, è pacioccoso.
Mio figlio si è ammalato quando aveva vent’anni non ancora compiuti, la diagnosi era neuropatia ottica ereditaria di Leber (LHON), una malattia mitocondriale che colpisce il nervo ottico.
News from Mitocon: Italy leads the way in the European Union with a secondary legislation for testing mitochondrial DNA replacement techniques
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Reprogramming of cells reveals therapeutic approaches
With the reprogramming of somatic cells, scientists hope to come a step closer to a therapy and even a cure for Leigh syndrome.