Newswise — (BOSTON) – Massachusetts Eye and Ear has awarded five research grants through the Curing Kids Fund to support projects aimed at advancing treatments for pediatric diseases related to the institution’s areas of expertise.
Through the generosity of donors, the Mass. Eye and Ear Curing Kids Fund supports pioneering research to advance treatments for children with conditions that impair vision, hearing and other disorders of the eyes, ears, nose, throat, head and neck. The grants are awarded annually following the Sense-ation! fundraising gala.
This year’s recipients will conduct investigations related to inherited retinal degeneration, hereditary deafness, sensorineural hearing loss, gene delivery systems and pediatric glaucoma.
2016 Curing Kids Fund Grant Award Recipients
Kinga Maria Bujakowska, Ph.D.Project title: “Characterization of nine new candidate genes for early onset inherited retinal degeneration”
Inherited retinal degenerations (IRD’s), the diseases of rod and cone photoreceptor cells, currently affect more than 2 million people worldwide. Over 200 genes have already been linked to IRD’s, but the genetic cause of IRD’s in 40 percent of patients remains unknown. Dr. Bujakowska will study nine new IRD candidate genes, looking at their function in the retina and at the functional consequences of their mutations. Her study aims to increase our knowledge of the genes that cause hereditary blindness and improve genetic diagnosis and counseling for patients.
Zheng-Yi Chen, D.Phil. Mingqian Huang, Ph.D.Project title: “Novel protein delivery and genome editing to correct genetic deafness”
Drs. Chen and Huang will study a new gene therapy approach to treat genetic deafness. They will combine genome editing technology with direct protein delivery into the inner ear to target a mutation in a specific gene frequently involved in genetic hearing loss in children, and to evaluate hearing restoration in a mouse model. If successful, the technology may be applied to other genetic causes of deafness in children.
Lavinia Sheets, Ph.D.Project title: “Bioactive molecule screen for drugs that modulate hair-cell nerve regeneration and synaptogenesis in zebrafish”Auditory neuropathy – a hearing condition in which sound information is not properly carried from the ear to the brain – is a form of hearing impairment responsible for approximately 10% of severe or profound hearing loss in children. It is associated with lack of oxygen at birth, infectious diseases or it may be acquired if a child is exposed to acoustic trauma. In patients where AN is caused by cochlear nerve-fiber loss, great benefit could be derived from therapies that promote nerve fiber regeneration.
Currently, there are no treatments to regrow the nerve connections that transmit sound from the ear to the brain. Dr. Sheets will conduct a drug screen to identify molecules that will enhance or inhibit nerve regeneration in a zebrafish model. Her work may provide critical information to be used toward developing therapies to fully regenerate these nerve connections in humans.
Luk H. Vandenberghe, Ph.D.Project title: “Combined intracellular protein and gene delivery for optimized genome editing therapy”
Dr. Vandenberghe and his team in the Grousbeck Gene Therapy Center will be developing novel technologies to enable synthetic delivery modalities to enable therapeutic genome editing, with the potential of impacting a broad array of pediatric diseases.
David M. Wu, M.D., Ph.D.Project title: “A new inducible model of buphthalmos”
A rapidly enlarging eye in newborns (known as “buphthalmos”) may be a warning sign of infantile glaucoma. Without urgent intervention, blindness can ensue. Dr. Wu is studying a new model of inducible buphthalmos in mice. Through this new system, he hopes to learn important information about pediatric eye growth and development.
About Massachusetts Eye and Ear Mass. Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck. Now united with Schepens Eye Research Institute, Mass. Eye and Ear is the world's largest vision and hearing research center, developing new treatments and cures through discovery and innovation. Mass. Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships. Internationally acclaimed since its founding in 1824, Mass. Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex. U.S. News & World Report’s “Best Hospitals Survey” has consistently ranked the Mass. Eye and Ear Departments of Otolaryngology and Ophthalmology as top in the nation. For more information about life-changing care and research, or to learn how you can help, please visit www.MassEyeAndEar.org.
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