Recently, Dr. MacDonald presented a briliant lecture on Retinitis Pigmentosa at iFocus Indian National Ophthalmology Resident Program. Now the lecture is available online. Please check the following Youtube link if you are interested!
Kim Papp, a second-year medical student, has been working with us since the summer of 2019. Please check this link to find out what she has to say about her research experiences with us for the 10th anniversary of the “Undergraduate Research Initiative.
Recently, one of our research fellows, Dr. Fay Zhai, was invited to give a webinar to the members of the Choroideremia Research Foundation. She shared her research experience on Choroideremia clinical trials.
Please check the poster and the Youtube link if you are interested!
Dr. MacDonald explains how an ASO(antisense oligonucleotide)-based gene therapy works on Leber’s Congenital Amaurosis (LCA) 10 patients with a CEP290 gene deep intronic mutation (c.2991+1655 A>G).
Over the past month, two groups of precious donors came in for a tour at our lab in the Katz building. Dr. MacDonald and the lab members showed them around the lab and illustrated our ongoing research projects and clinical trials. Paul Crichton, our master’s student, presented his research results on investigating the underlying immune mechanisms of the retina when exposed to a viral vector for gene therapy treatment. His project has broad implications for the safety and efficacy of ocular gene therapies.
We had really great time meeting and talking with our donors. We would like to take the opportunity to thank our donors for their kind support of our research. We share the same hope that one day, we can provide effective treatment options for patients with inherited retinal dystrophies.
Recently, Dr. MacDonald has done an interview with Broadeye, a podcast that explores knowledge gaps in ophthalmology and eye care.
In this interview, Dr. MacDonald provides a detailed overview of the current state of genetic therapies for degenerative retinal diseases. He further describes Choroideremia, including disease pathology, prognosis, and potential treatment avenues. Finally, Dr. MacDonald explains his reaction to being nominated for a Lifetime Achievement Award by the Canadian College of Medical Geneticists, pointing out some of his own remarkable mentors throughout his career.
Please check the following links if you are interested.
Link to the episode: http://broadeye.org/ian/
We are pleased to invite you to view a recording of an exclusive online event on Inherited Retinal Disease in the era of gene therapies:
The complexities of identifying a genetic diagnosis: a team approach
Dr. Ian MacDonald, MSc, MD, CM and Leslie Colvin James, B.Sc., M.Sc
Link to access the archived webinar content:
Available Online until October 17, 2021
Dear ladies and gentlemen, we are pleased to pass following news:
Retina International was approached in October by patient representatives affected by Choroideremia, who have asked if RI would consider forming a patient network. With this in mind, we have formed the Retina International Choroideremia Special Interest Group (SIG) (RI-CHM). This will be made up of volunteer patient experts who will work to connect satellite groups and organisations, as well as individuals and families affected by Choroideremia.
The group will also work to identify and connect patients affected by Choroideremia to appropriate research institutions and to established expert centres. The aim of this will be to incorporate them into the existing Choroideremia Community and provide capacity building to those who wish to engage in advocacy for their conditions. The SIG will work towards better quality of life for people living with Choroideremia through the promotion of research and equitable access to emerging therapies.
- To connect satellite groups and organisations as well as individuals and families affected by Choroideremia internationally.
- To identify and connect patients affected by Choroideremia to appropriate research institutions and to established expert centres with a view to incorporating them into the existing Choroideremia and Retina Research Community.
- To identify global ambassadors and advocates for Choroideremia in the Retina community at large.
The SIG will be chaired by Michael Längsfeld of PRO RETINA Germany and a member of the board of Directors of the Choroideremia Research Foundation. The SIG is now seeking volunteers to join and commence work on strategic planning. If you or a member of your organisation is interested in participating in this, or would like more information, please contact email@example.com or at our homepage under http://www.retina-international.org/ri-chm/
Although we have been quiet on this website, we have been hard at work during the last three years! Our gene therapy trial wrapped up in September of last year and our results were just published online in the past month. As you may remember, this study investigated the safety and utility of gene therapy as a potential therapy for choroideremia. The goal of gene therapy is to reintroduce a functional copy of the CHM gene into the eye using a vector (or customized virus).
Our study included 6 participants aged 30-42 years who had a confirmed diagnosis of choroideremia. The viral vector which included the CHM gene was injected into the eye with worse vision of each participant. They were then followed over a 2-year period (Summer 2015-2017) with visual function testing every 6 months. The primary goal of the study was to determine whether the gene therapy was safe. The second goal was to measure any differences between the treated and untreated eye in each participant over time. We achieved both of these goals by measuring eye function and structure using different specialized testing equipment.
Five out of six participants had no serious adverse effects to the procedure but one participant did experience a reaction in his treated eye resulting in a notable decline in visual function.
In addition, the retinal tissue in all participants appeared to deteriorate in the treated eye at the same rate as the untreated eye during the course of the study.
Therefore, we concluded that the experiment itself did not improve visual function or halt the degradation of retinal tissue caused by choroideremia. We learned valuable information about safety and how to measure vision for future gene therapy trials.