Author Interviews, Genetic Research, Lancet, Ophthalmology / 26.02.2025
Gene Therapy Reversed Blindness in 11 Children with Congenital Disease
MedicalResearch.com Interview with:
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.
Dr Sarah Myers PhD
Honorary Research Associate
UCL Department of Anthropology
MedicalResearch.com: What is the background for this study?
Response: Postnatal or postpartum depression is unfortunately common after giving birth; a figure often quoted is 15%, but some studies have found much higher numbers. Postnatal depression is associated with a range of poorer outcomes for mothers and their infants, and the financial costs of treating maternal mental ill health put health services under considerable strain. Studies have found that providing additional emotional support to at risk mothers, for instance via peer support programmes or regular phone calls with health visitors, can reduce the likelihood of them developing the condition. Therefore, it is really important that we understand the full range of risk factors that put women at greater risk of becoming depressed after giving birth.
There is increasing evidence for a link between inflammation and depression, with factors that trigger an inflammatory immune response also increasing the likelihood of depressive symptoms. The opens up the possibility of finding new risk factors for postnatal depression based on known associations with inflammation.