Dr. Kannan V. Manian from Harvard Medical School awarded $90,000 Knights Templar Eye Foundation Grant for RP and Usher Syndrome Gene Therapy Research

Dr. Kannan V. Manian from Massachusetts Eye and Ear, Ocular Genomics Institute, Harvard Medical School located in Boston, Massachusetts was awarded a $90,000 grant for the research entitled: Pediatric retinal dystrophy caused by defects in the USH2A gene: mechanisms and a potential therapy using base editing.

Dr. Manian specializes in trying to understand and treat inherited degenerations of the retina, the light-sensitive tissue that supports vision. Patients with inherited retinal diseases, such as retinitis pigmentosa (RP), can go blind as the disease progresses. Even worse, certain varieties of RP can be combined with hearing loss, with this combination called Usher syndrome. The most common cause of Usher syndrome is mutations in the USH2A gene. There are no approved treatments available for USH2A-associated RP. While mouse models of the disease exist, they lack the retinal degeneration observed in humans. Therefore, there is a need to develop a disease model based on human cells that could be used to gain insights into disease mechanisms and optimize therapeutic strategies. Dr. Manian previously obtained cells from a patient with USH2A mutations. These cells were converted into stem cells and will be turned into retinal cells to investigate how USH2A mutations cause photoreceptor death. Next, he will use a CRISPR-based genome editing technique, called base editing, to specifically change the incorrect DNA base into the correct one, addressing the original cause of the disease. Ultimately, the faulty gene could be repaired directly in patients using base editors.

Dr. Manian will optimize the gene correction safety and efficiency, one step along the way to testing these techniques in patients. By combining the power of stem cell technology and gene editing, he hopes to pave the way for personalized treatments for patients with RP or Usher syndrome.