The Vision of Children Foundation is excited to share this update from our team of researchers led by M. Vittoria Schiaffino, MD, PhD at San Raffaele Scientific Institute in Milan, Italy:
"My laboratory studies the biological process of what causes albinism at the molecular and cellular levels. It is essential that we understand the cause of this disorder at its most basic level in order to facilitate progress towards success at clinical trials. Among the possible therapeutical strategies for albinism, including gene therapy and pharmacological therapy, we are currently investigating the latter, since it does not require surgical procedures, which at present still retain some risk of eye injury.
By contrast, pharmacological therapy (using medicinal drugs) is a non-invasive strategy and has already progressed to clinical trials in the case of the drug nitisinone, thanks to the work of Dr. Brian Brooks and colleagues at the NIH. Yet, unfortunately the results reported so far by using nitisinone are still limited and would currently only apply to certain types of albinism. Therefore, we are seeking additional drugs and targets that will be effective. These additional drugs and targets can be found by studying the cellular biology of pigmented cells in the eyes and retina (i.e. how these cells function to make the pigment melanin that is abnormal or absent in albinism), and the role of specific proteins in this context.
Using this approach, we are particularly interested in the protein TFEB. We are currently looking at how TFEB is involved in ocular albinism (and potentially other types of albinism) and if it could be utilized to reverse or ease symptoms of the disease. TFEB has been already established as a potential therapeutic target in several other disorders, including lysosomal storage diseases, common neurodegenerative disorders (Parkinson, Alzheimer, Huntington), and certain types of cancer.
Therefore, the advantage of our study is that we could potentially take advantage of the breakthroughs of TFEB’s research, performed by other investigators in these other diseases (including the identification of drugs able to modulate TFEB’s activity), and apply those methods to our work on the treatment of albinism."
-M. Vittoria Schiaffino, MD, PhD
The Vision of Children Foundation would also like to note that without your contributions, this research would cease to exist. We are incredibly thankful for your support and a cure is literally within sight! You can help secure this future by donating now.