According to a story from Health News and Information, The National Eye Institute presented Juergen Naggert, Ph.D., with a grant in order to study genetically connected changes that occur in the external limiting membrane of the eye. Further research of the breaks that occur in this area could be critical in more thoroughly understanding retinal diseases such as enhanced S-cone syndrome (ESCS), also called Goldmann-Favre syndrome. The grant comes to a total of $2,187,500 in funding and is meant to cover five years of study. Naggert is a professor at Jackson Laboratory (JAX). Jackson Laboratory is a nonprofit, independent biomedical center that is committed to the discovery and research of genomic treatments and solutions for a variety of diseases.
In ESCS, genetic mutations cause there to be a greater number of short “s” cones than normal. Typically, the S cones comprise only about ten percent of the retina’s total of six million cones, but people with the syndrome have more of them than any other type. This causes the retina to deform and photoreceptors degenerate prematurely, causing a loss of vision detail and night blindness.
Naggert has already done some work studying ESCS and other diseases of the retina. He already knows, for example, that most critical mutation is caused by alterations to the gene NR2E3. Naggert also states that there is significant variation in the severity of symptoms in the disease, which suggests that there may be other genetic factors that play a role. More specifically, Jackson Laboratory has already pinpointed a modifier that stops the external limiting membrance (ELM) in the eye from fragmenting, which typically occurs in ESCS.
This discovery implies that ELM fragmentation plays a major role in retinal deformation, but more research needs to be conducted to confirm this possibility and determine its importance in the progression of the condition. The new funding will be a massive shot in the arm for the continued study and research related to ESCS and other rare retinal diseases with a genetic cause. Once the underlying mechanisms of the modifier genes are discovered, it will hopefully be possible to begin to develop therapies that will be able to take advantage of it.
