Since November 2022, CRF has awarded six new resea
rch awards, several of which were in partnership with collaborating organizations. Three recipients of the Throssell and Hillier Families Research Award funded in partnership with CRF Canada included:
- Miguel Seabra, MD, PhD and Pedro Antas, PhD, Global Eye Initiative, Champalimaud Foundation, Portugal – “CRISPR-Based Gene Editing for Choroideremia”
- Joseph Porter, PhD and John Lueck, PhD, Department of Pharmacology and Physiology, University of Rochester Medical Center, NY – “Development of a modular CHM minigene for testing rescue of the LET variant via anticodon engineered tRNAs”
- Kirstin Nagel-Wolfrum, Dr. Phil. Nat, Institute of Molecular Physiology, Johannes Gutenburg University, Mainz, Germany – “Translational read-through as therapeutic approach for CHM patients with disease causing nonsense mutations”
Additionally, Kathleen Boesze-Battaglia, PhD, Professor of Biochemistry and Physics, University of Pennsylvania, Philadelphia, PA was awarded a grant in partnership with the Penn Orphan Disease Center for her project “Targeting Metabolic Homeostasis in Dysfunctional CHM Retinal Pigment Epithelia”.
Two additional grants funded by CRF include
- Sena Gocuk, B.Sci (Hons), D.Optom, M.Phil., Department of Optometry and Vision Sciences, University of Melbourne, Australia – “Benelli Family Research Award: Structural and functional changes in female carriers of choroideremia: A longitudinal study- Year 2 expansion”
- Ian MacDonald, MSc, MD, CM, Professor Emeritus, Department of Ophthalmology and Visual Sciences, University of Alberta, Canada – “Francisco Rodriguez Research Award: Identifying the Cause of a Discordant Phenotype in Two Brothers with the Identical CHM Mutation – Year 2”
Other news:
CRF exhibited at the 2022 American Academy of Optometr
choroideremia research foundationy (AAOPT) Annual Meeting in San Diego. Our team of volunteers connected with a wide range of global professionals to share the latest scientific research updates, CHM differential diagnostic information (DDx) resources, and more about the importance of genotyping patients.
We are now offering two monthly, internationally focused online discussion groups. These include:
CHMer Convo Europe, 12:30 ET/17:30 London/18:30 Paris each 2nd Thursday of the month.
Mom’s Chat Europe, 2 pm ET/19:00 London/20:00 Paris on the 4th Thursday of the month.
For more information or to register to attend, please email Cory at CoryMacDonald@curechm.org
CRF is seeking volunteers interested in serving as Board Members for their new fiscal year which begins July 1. Worldwide CHM patients, family members and friends are encouraged to apply. Interested? Email info@curechm.org.
CRF is looking forward to partnering with ProRetina to sponsor their International Symposium in Germany, September 15-17, 2023. We hope you can join us!