1. How did you cross paths with Khondrion?

I heard about Khondrion from International Mito-Patients, the global network of patient organisations, and by attending mitochondrial conferences around the world. I have also had the chance to collaborate closely with Dr. Jan Smeitink as we organised a consensus meeting for clinical trial readiness in primary mitochondrial myopathies in Rome a few years ago. Through this interaction with Jan I was able to appreciate his passion for research in this area.


  1. How will the Scientific Advisory Board help Khondrion to achieve its goals?

As members of the Scientific Advisory Board (SAB), we must be transparent and independent. Being part of the SAB, we need to carefully study all of Khondrion’s research papers and provide the best tips and suggestions to develop the best programmes for the Company.


  1. Tell us about your career and how you started in the mitochondrial disease space.

Soon after my residency programme (2001) I had the privilege to stay for three years at Dr. DiMauro’s Lab at Columbia University, NY, falling in love with the study of mitochondrial diseases and neurogenetics. Since then, I have never changed my mind, and I’m still in love with them. I returned to Italy in 2004, where I now lead the outpatient neurogenetics service at the Neurological Institute of the University of Pisa, and I am the speaker of the Italian Network for mitochondrial diseases, founded in 2009.


  1. What do you see as the biggest challenges in the mitochondrial disease space today?

Following mitochondrial patients in daily practice, I must say that we are still very much suffering from the lack of specific treatments. Moreover, being so complex, these diseases deserve a lot of attention and a multidisciplinary approach that, sadly, is still not common practice. Finally, the awareness of these diseases is still poor, and we must teach, communicate better, and amplify patient voices outside the excellence centers.


  1. What other mitochondrial disease projects are you interested in/working on?

In Italy we are working hard to better characterise the genotypes and phenotypes, natural histories and the clinical trial readiness of these diseases. I strongly believe in the international collaborations that are occurring across this research space; this is also why I intensively collaborate with EU and non-EU groups on global registries for the development of new treatments.


  1. What is your coffee order?

Espresso, short, no sugar, with a splash of cold milk!