Dr. Kelly Mulfaul from University of Iowa Awarded $70,000 Knights Templar Eye Foundation Grant for Batten Disease Research

Dr. Kelly Mulfaul from the University of Iowa Institute for Vision Research, Iowa City, Iowa was awarded a $70,000 grant for the research proposal entitled: The identification of neuroprotective mechanisms in human iPSC derived retinal neurons

Batten disease is a rare but devastating progressive genetic disorder. Children between the ages of 5-10 years old experience vision loss which often progresses to complete blindness. As teenagers’ patients develop loss of motor skills, cognitive decline and ultimately die prematurely in their twenties. The rapid progression of this neurodegenerative disease creates suffering for the affected child their parents and siblings. Currently no cure exists for Batten disease. Dr. Mulfaul has used skin biopsies from two independent Batten disease patients to make induced pluripotent stem cells and have used CRISPR technology to correct the mutation causing Batten disease. Dr. Mulfaul will make retinal organoids which contain the cell types responsible for vision, from both the patient cells and the corrected cells, and they will use single cell RNA sequencing to identify genes and pathways that are altered in Batten disease. This will allow Dr. Mulfaul to identify targets that they can use for the generation of therapies to restore vision.