March 26, 2021, 15:41 GMT —
Dr. David Gamm, University of Wisconsin, Madison, Receives the Latest Research Award from CRF to Investigate Rare Inherited Retinal Disorders.
Dr. Gamm is a recognized leader in the field of inherited retinal diseases who the CRF has supported in previous research efforts,”
— Neal Bench, CRF board president
SPRINGFIELD, MA, UNITED STATES, March 26, 2021 /EINPresswire.com/ — The Choroideremia Research Foundation (CRF) is pleased to announce the recipient of the Auburn Theta Chi, Chi Chapter Research Award is David Gamm, MD, PhD, Director of the McPherson Eye Research Institute and Associate Professor of Ophthalmology and Visual Sciences at University of Wisconsin, Madison.
In Dr. Gamm’s proposal, Generation of Human iPSc Lines with Patient-Relevant REP-1 Mutation, he will lead a team to clarify the function of the REP-1 protein in leading to blindness. Encoded by the choroideremia (CHM) gene, Dr. Gamm currently uses patient-derived stem cells that result in variability between the cell lines. As a result, this genetic variability makes it difficult to compare outcomes across experiments. He will endeavor to engineer a pluripotent stem cell line (the ‘founder line’) from which all future mutant cell lines maybe derived. Differences in future results of tests conducted on mutant lines generated from the founder line will only be due to the specific mutation and not due to other variations in the genetic code.
“Dr. Gamm is a recognized leader in the field of inherited retinal diseases who the CRF has supported in previous research efforts,” said Neal Bench, CRF board president. “The results from this latest research will improve our understanding the critical role of REP-1 proteins in CHM.”
For more information about all research studies the CRF supports, please visit curechm.org/research/
Choroideremia (CHM) is a rare inherited form of blindness affecting approximately 1 in 50,000 people. Due to its x-linked inheritance pattern males are most severely affected with females usually experiencing much milder visual impairment. Symptoms begin in early childhood with night blindness and restriction of visual field being the earliest noticeable effects, eventually progressing to complete blindness. An estimated 6,000 people in the United States and 10,000 in the European Union are impacted by Choroideremia. There are currently no approved treatments for Choroideremia.
About the Choroideremia Research Foundation Inc.
The Choroideremia Research Foundation was founded in 2000 as an international fundraising and patient advocacy organization to stimulate research on CHM. Since its inception, the CRF has provided over $2.5 million in research awards and is the largest financial supporter of CHM research worldwide. Research funded by the CRF has led to the development of a CHM animal model, the pre-clinical production of gene therapy vectors currently in clinical trials, and the CRF Biobank which stores tissue and stem cell samples donated by CHM patients. For more information, visit www.curechm.org
Choroideremia Research Foundation Inc