[2] He is the recipient of 2016 Louis-Jeantet Prize for Medicine for his contribution to understanding the molecular mechanisms controlling the function of lysosomes in health and disease.

[3] After graduating in medicine and specializing in pediatrics at the Federico II University in Naples, he spent many years abroad, first in England and then in the United States, where he became associate professor at the Department of Molecular and Human Genetics, Baylor College of Medicine and co-director of Baylor Human Genome Center in Houston, Texas.

His discovery of the TFEB gene, which controls the functioning of lysosomes, has had a major impact on cellular biology and neurodegenerative diseases.

[citation needed] Furthermore, among his major early discoveries, he identified and characterized the Xist gene in human and mice.

Challenging the conventional knowledge of cellular biology, he hypothesized that lysosome is a dynamic structure subjected to global transcriptional regulation and able to adapt to environmental stimuli.