Author Interviews, Genetic Research, Lancet, Ophthalmology / 26.02.2025
Gene Therapy Reversed Blindness in 11 Children with Congenital Disease
MedicalResearch.com Interview with:
[caption id="attachment_66831" align="alignleft" width="125"]
Prof. Michaelides[/caption]
Professor Michel Michaelides BSc MB BS MD(Res) FRCOphth FACS
Professor of Ophthalmology and Consultant Ophthalmic Surgeon
UCL Institute of Ophthalmology and Moorfields Eye Hospital
MedicalResearch.com: What is the background for this study?
Prof. Michaelides[/caption]
Professor Michel Michaelides BSc MB BS MD(Res) FRCOphth FACS
Professor of Ophthalmology and Consultant Ophthalmic Surgeon
UCL Institute of Ophthalmology and Moorfields Eye Hospital
MedicalResearch.com: What is the background for this study?
- Leber congenital amaurosis (LCA) is a rare inherited retinal disease (IRD) that causes the degeneration of the cone and rod cells in the retina. It is characterized by severe vision loss at birth/early infancy and is one of the commonest causes of legal blindness in childhood. There is a wide range of severity at birth/early infancy, ranging from light perception to useful central vision; with variable rate of progression over time, LCA is estimated to occur in about 1 in 33,000 people. There are more than 30 genes that cause LCA.
- LCA associated with genetic deficiency of AIPL1 is one of the most severe forms of LCA – resulting in profound visual loss from birth (often light perception only) and rapidly progressive retinal degeneration.
- The study sought to evaluate whether early intervention by gene supplementation therapy in children with LCA associated with AIPL1 was safe and could improve outcomes.
Prof. Mihaylova[/caption]
Borislava Mihaylova, DPhil
Associate Professor & Senior Health Economist
Nuffield Department of Population Health, University of Oxford,
UK & Professor of Health Economics
Wolfson Institute of Population Health
Queen Mary University of London, UK
MedicalResearch.com: What is the background for this study?
Response: Despite high risks of heart disease and stroke in people over 70 years old and high need for preventive treatment such as statins, fewer older people use statins [compared to middle-aged people]. This, at least in part, is likely due to fewer older people, particularly those without previous heart attacks and strokes, included in the randomized studies of statin treatment. This has led to more limited evidence among them with larger uncertainty. Thus, we set to re-examine the value of statin treatment using the latest evidence and contemporary population data.
Dr. Davis[/caption]
Esa M. Davis, M.D., M.P.H , F.A.A.F.P
Professor of Medicine and Family and Community Medicine
Associate Vice President of Community Health and
Senior Associate Dean of pPopulation Health and Community Medicine
University of Maryland School of Medicine
Dr. Davis joined the U.S. Preventive Services Task Force in January 2021
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Iron is important to overall health, and people need more iron when they are pregnant. This can make pregnant people at increased risk for iron deficiency, which can progress to anemia and cause complications for both moms and their babies. After reviewing the latest available research, the Task Force found that there is not enough evidence on whether pregnant people who do not have signs or symptoms of iron deficiency or anemia should be screened—or take iron supplements—to improve their health or the health of their baby.
Dr. Oliva[/caption]
Azahara Oliva PhD
Assistant Professor
Department of Neurobiology and Behavior
Cornell University
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The background is that we knew for a while now that neurons work hard to consolidate into memories each experience that we have during the day. But at the same time, it is known that sleep restore activity of our body and physiology. How was that possible? How can the neurons in our brain "work hard" during the time that we are supposed to be restoring our vitals? We found that in between their hard work, during sleep, our neurons take "breaks of activity" so our brain can build memories with precision.
Ben Petrazzini[/caption]
Ben Omega Petrazzini, B.Sc.
Associate Bioinformatician