Dr. Fingert presented stem cell research of glaucoma disease mechanisms at the 2013 meeting of the American Society for Human Genetics in Boston. The Glaucoma Genetics Laboratory is collaborating with Budd Tucker and his ophthalmic stem cell lab to study glaucoma. Three major advances in the team's stem cell research of glaucoma were presented.
1) We reported the first ever example of growing optic nerve cells in a petri dish using stem cell biology. Starting with a small skin biopsy, we collected skin cells (fibroblasts) and forced them to become adult stem cells. Next the stem cells were differentiated into optic nerve cells (retinal ganglion cells).
2) We reported growing optic nerve cells from a patient with a known glaucoma causing gene defect (TBK1 gene duplication).
3) We reported that optic nerve cells from a glaucoma patient with a TBK1 gene duplication have abnormal metabolism. The process of autophagy (a means for removing waste materials) is functioning abnormally in these cells, suggesting that problems with autophagy may be a cause of glaucoma at the cellular level.