Researches, studies, clinical trails, news
Aniridia News
7th European conference summary, for patients, by Prof. Neil Lagali
Aniridia Europe is pleased to present the 7th European conference summary for patients, meticulously prepared by Prof. Neil Lagali. This conference has been exceptional and immensely valuable, and we continue to share its results ! Additionally, conference recordings are available on AE youtube channel.
THANK YOU!
Latest Cornea Research by Dr. Ali Djalilian
The Vision For Tomorrow Foundation is excited to share more details on the VFT funded research published in the medical journal “Science Translational Medicine”. The study, “Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice”.
The main goal of the study was to determine if it is possible to stimulate the functional copy of PAX6 using an existing medicine to increase PAX6 expression in the eye. A secondary goal was to determine whether increasing PAX6 expression in the eye in this way would help to normalize eye development and function.
The results in mice were very encouraging.
Recordings of the 5th European Aniridia Conference
The virtual European Aniridia Conference (EAC) enables the sharing of scientific knowledge about the rare genetic eye condition aniridia. Its goal is to prevent sight loss and deal with aniridia’s effects.
It brings together patients and the world’s top experts to upskill the clinical, research and aniridic communities. Take part to get insights from those developing and delivering treatments and people living with the complex visual impairment.
Understanding aniridia is challenging, due to the scattered patient population, its highly variable impact and complications of linked conditions.
Happening online for the first time, the biennial EAC innovatively addresses this.
Aniridia-Net webinar. Managing aniridia: dos and don’ts from infancy to adulthood
A special webinar for Aniridia Day on Monday 21st June 2021, at 18.00 CET!
The speakers, Prof. Dominique Brémond Gignac and Prof. Barbara Käsmann-Kellner, are working since many years with aniridic patients and have a relevant expertise in the field.
Introduced by Ivana Kildsgaard, Aniridia Europe’s Board member, they will dialogue about the most relevant topics of congenital aniridia, such as the assessment of signs and symptoms of aniridia, diagnosis and treatment of glaucoma, prevention of corneal opacification, systemic manifestations of PAX6 aniridia, intraocular surgeries in aniridia, and low vision aids.
Fight for Sight funded researchers test drugs with potential to restore sight loss from aniridia
Fight for Sight is funding scientists from the University of Aberdeen to test two repurposed drugs for the treatment of the rare eye condition aniridia, which causes blindness.
The team will determine whether administering either of the drugs by mouth or in eye drop form can restore levels of a vital protein to normal levels. If successful the study could lead to future trials to test whether the drugs can reverse symptoms in adults, or even prevent them from occurring in children.
Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia
The paired box 6 (PAX6) gene encodes a transcription factor that controls many aspects of early development of the central nervous system, eye, and some non-neuronal tissues such as the pituitary and pancreas.One possible approach to treating aniridia is gene therapy, where genetic material is delivered into cells to make the required protein (augmentation) or correct the defective gene (gene editing).
