The Bertarelli Foundation has awarded collaborative research grants to four teams of scientists representing Harvard Medical School, its affiliated teaching hospitals, and the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, all focused on understanding and treating some of the most devastating sensory disorders, including deafness, blindness and pain.
The three-year grants, which provide $300,000 in funding per project per year, are part of the Bertarelli Program in Translational Neuroscience and Neuroengineering. The grants are designed to foster cross-disciplinary cooperation among leading basic, translational and clinical neuroscientists in an effort to propel discoveries from laboratory to clinic.
Toward a therapy for deafness and blindness in Usher syndrome
Two HMS neurobiologists studying the origins of deafness--David Corey, the Bertarelli Professor of Translational Medical Science at HMS and Artur Indzhykulian, HMS assistant professor of otolaryngology at Massachusetts Eye and Ear--are joining forces with Botond Roska, an expert on retinal biology and eye disease at the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, to develop treatments for a form of Usher syndrome. This genetic disorder arises from mutations in multi-tasking genes involved in the senses of hearing, balance and vision. Usher syndrome occurs in about 1 of 10,000 people and accounts for half of all inherited cases of combined deafness and blindness, according to National Institute on Deafness and Other Communication Disorders.
Corey and Indzhykulian's work will focus on a particularly severe form of the disease, known as Usher syndrome type IF, characterized by profound deafness and absence of balance function at birth, along with progressive blindness beginning in a person's 20s.
Because children with this form of the disease rely on their vision to compensate for their deafness and lack of balance, the eventual loss of sight can be particularly devastating.
The researchers will focus on developing gene therapy aimed at overcoming a hurdle that has stymied therapeutic efforts so far: the unusually large Usher 1F protein. Typically, researchers use a harmless virus, such as the common adeno-associated virus, as a delivery vehicle to carry a healthy copy of a gene into the target cells.
In this case, the targets are hair cells in the inner ear and photoreceptor cells in the retina. However, the DNA for the Usher 1F protein is too long to fit in the viral carrier. Corey, Indzhykulian and Roska will use three different strategies to overcome this barrier.
About the Bertarelli Program in Translational Neuroscience and Neuroengineering
"Neuroscience is experiencing an exciting confluence of two advances: an explosion in our understanding of how the brain works and how it goes wrong in neurological disease and the staggering arsenal of new biological tools that can modify genes and cells to treat disease," said David Corey, the Bertarelli Professor of Translational Medical Science at HMS.
"The new projects of the Bertarelli Program will combine these advances to develop new therapies for debilitating sensory disorders," Corey said.
Established in 2010, based at HMS and led by Corey, the program brings together scientists from a range of disciplines to help bridge the gap between basic and translational neuroscience and to address important research challenges that, once solved, promise to have life-altering outcomes for patients with sensory disorders.
The program was conceived by Ernesto Bertarelli as "a fusion of different talents, passions and visions united by a commitment to find groundbreaking ways to treat people and to make their lives better."
"Sensory disorders represent a vital frontier in neuroscience, both because of the extent to which they affect people's lives all over the world but also because treatments for many of them feel within our grasp," Bertarelli said. "These four new collaborative research projects are cases in point. I am excited to welcome them to the Bertarelli Program and to follow their progress as, together, we work towards the ultimate goal: clinical solutions that will change people's lives."
The latest round of funding from the Bertarelli Foundation brings to 15 the total number of research grants awarded since 2010.