One Brother is Symptomatic while the Other is Not
SPRINGFIELD, MASSACHUSETTS, UNITED STATES, August 4, 2020 /EINPresswire.com/ — The Choroideremia Research Foundation (CRF) is pleased to make its third announcement this summer, funding a research study by Stacey Hume, PhD, FCCMG, Molecular Geneticist and Associate Professor in the Department of Medical Genetics at University of Alberta. Named the Boren Family Research Award, it’s given in recognition for the generous support of the Boren family.
In Dr. Hume’s proposal project, Identifying the cause of a discordant phenotype in 2 brothers with the identical CHM mutation, the aim is to understand why the severity of choroideremia (CHM) is different between two brothers with the same gene mutation both clinically and genetically. This unique case may challenge the current view that males with CHM will become visually impaired over time, including potential blindness. Dr. Hume will attempt to determine what factors allow the preservation of retinal structure and function in one brother, while the other experiences unabated disease progression.
“We are proud to announce our support of Dr. Hume’s research in cooperation with the Choroideremia Research Foundation Canada,” said Neal Bench, CRF board president. “This groundbreaking research will expand our knowledge about unknown elements of CHM and potential therapies.”
For more information about all research studies the CRF supports, please visit curechm.org/research/
Source: EIN Presswire