CHOROIDEREMIA RESEARCH FOUNDATION ACCELERATES SCIENTIFIC RESEARCH OF RARE INHERITED RETINAL DISEASE WITH THREE GRANTS
The foundation names it’s 4th annual Randy Wheelock Award winner
SPRINGFIELD, MA, UNITED STATES, September 17, 2024 /EINPresswire.com/ — The Choroideremia Research Foundation (CRF) is pleased to announce its latest scientific research grants, supporting its mission to find a treat or cure for choroideremia (CHM). Award recipients are as follows:
Kathleen Boesze-Battaglia, PhD, Department of Basic and Translational Science, University of Pennsylvania
STUDY: Assessment of Metabolic Homeostasis in the CHMnull/wt mouse, implications for novel therapeutic interventions
SPECIFC AIMS:
To test the hypothesis that loss of REP1 expression compromises RPE metabolic homeostasis leading to RPE dysfunction resulting in nutrient deprivation to the neural retina and retinal degeneration.
1. To determine if loss of CHM/Rep-1 dysregulates systemic, retinal and RPE metabolism.
2. To determine if loss of CHM/Rep1 modulates RPE lipoprotein secretion and lipid transporter levels and activity.
GRANT: $59,310
David Gamm, MD, PhD (PI/PD), Director of McPherson Eye Research Institute, Professor in Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison
STUDY: Optimization of AAV vectors for ace-tRNA readthrough therapy for choroideremia
SPECIFIC AIMS:
To develop AAV vectors for efficient and long-term expression of ace-tRNAArg for readthrough of Arg>TGA mutations in CHM.
1. Generation of next-generation versions of CCT, TCG, and TCT 4X ace-tRNAArg constructs and corresponding scAAVs.
2. Assessment of the dose response of next-generation ace-tRNAArg scAAVs (from Aim 1) in CHM (Arg270X)-3XFLAG iPSC-RPE.
3. Determination of the long-term efficacy of optimized 4X ace-tRNAArg scAAV7m8.
4. Evaluation of the versatility of optimized 4X ace-tRNAArg scAAV using a second iPSC-RPE model of CHM harboring an Arg293X PTC.
GRANT: $100,000
Shalhevet Izraeli, MSc Student, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Ms. Izraeli is this year’s Randy Wheelock Research Award Winner in celebration of the decades-long advocacy of its namesake to find treatment or a cure for CHM.
STUDY: Using suppressor transfer RNAs to correct CHM nonsense mutations
SPECIFIC AIMS:
To identify and study the translational readthrough efficacy of different suppressor transfer RNA (Sup-tRNA) targeting two relatively common CHM nonsense mutations to produce full length proteins with WT amino acids.
1. Use the HeLa and the 661W mouse photoreceptor cell-lines to identify the most efficient Sup-tRNA for two CHM nonsense mutations (c.877C>T, p.Arg293* and c.1218C>A, p.Cys406*), using a dual-reporter plasmid developed in our lab.
2. Clone multiple copies of the most efficient Sup-tRNA (identified in AIM1) for each mutation to find the desired copy number of Sup-tRNA required to produce sufficient levels of the full-length protein, using fluorescent microscopy, Western blot and FACS.
GRANT: $50,000
For more information about all research studies the CRF supports, please visit curechm.org/research/
