The group of Human Molecular Genetics at the University of Castilla-La Mancha (UCLM) has published research which represents an important breakthrough in knowledge in the genetic basis for ophthalmological illnesses and, specifically, congenital glaucoma, thereby helping to diagnose it and adding to knowledge about what causes this illness. In this research, groups collaborated from the San Carlos clinical hospital, the Ramón Castroviejo Ophthalmology Institute and Fundación Jiménez Diaz de Madrid, as well as the University of Yale Department of Ophthalmology (USA). Likewise, it is supported by the Glaucoma Association of Sufferers and relatives (AGAF).
The study, as indicated by the coordinator, the UCLM professor Julio Escribano, has been performed by a group of patients from different parts of Spain, recruited from the San Carlos Clinical Hospital and Fundación Jiménez Diaz in Madrid. "By using genomic techniques, we have identified new genetic alterations in a gene called CPAMD8, whose role is not well-known.
The results obtained help in the diagnosis and genetic assessment of the illness. "They also help to better understand its causes". Furthermore, using genetic manipulation techniques, such as the CRISPR/Cas9 system, and the zebra fish, researchers have shown that when this gene is modified in the fish, ocular changes occur which are related to what we see in patients, "which enables us to use this animal as a model for studying the illness and gives us an opportunity to develop new treatments".
The published work is part of a line of research on genetic modifications in congenital glaucoma competitively funded by the Carlos III (ISCII) Health Institute, the JCCM Education Council and the UCLM´s own plan. Also, within OFTARED, a network of research on ophthalmological diseases from the ISCII is being conducted, and this is supported by the Glaucoma Association of Sufferers and relatives (AGAF).
"The research is an important breakthrough in knowledge about the genetical basis of illnesses and congenital glaucoma in particular, and consolidates the position of our group as a leader in this field in our country", they said.
Congenital glaucoma is a serious illness produced by an anomaly in the embryonic development of the eye which leads to high ocular tension and injury to the optic nerve. All of this causes a reduction or loss of sight. Generally, it appears before three years old and affects approximately one in every 10,000 people from birth, and is the most typical type of glaucoma in childhood and one of the main causes of blindness at this stage of life. Although some of the genes responsible for the disease have been identified, they are still unknown in most patients.
The full article can be seen on the following link: https://rdcu.be/b3uK6.
UCLM Communication Office Albacete, 16th of April 2020