Скачать или смотреть EAC 2021 - 12 - Plasma metabolome signature and PAX6 levels in aniridia patients - Mariya Moosajee

Professor Mariya Moosajee explains how the genetic cause of most aniridia patients is the presence of changes (mutations) in one of the copies of the PAX6 gene, causing insufficient levels of the PAX6 protein to be produced. PAX6 is also important for the formation of the pancreas and the nervous system. Although recent studies increasingly report symptoms outside the eye such as sleep disturbances, obesity or diabetes, it is still poorly understood how reduced PAX6 levels affect the rest of the body. Metabolomics is the study of small chemical compounds, known as metabolites, for example carbohydrates, vitamins, fats, and proteins. Therefore, her goal was to investigate all the metabolites circulating in the blood of 25 aniridia patients and compare it to 25 healthy individuals. Results showed patients have altered levels of several metabolites linked to oxidative stress (charged oxygen molecules that can cause unwanted damage), fat metabolism as well as chemicals with a role in the nervous system. Her findings confirm the widespread role of PAX6 and highlights possible new treatment avenues for aniridia patients to prevent long term health problems.

See the Q&A session for follow-up discussion on this topic:
   • EAC 2021 - 15 - Session 2 Q&A Panel Discus...  

Professor Mariya Moosajee is a clinician-scientist, and holds a Chair in Molecular Ophthalmology at the UCL Institute of Ophthalmology specialising in genetic eye disease. In 2020 she joined the Francis Crick Institute as the group leader of ocular genomics and therapeutics, where she continues her work to advance our understanding of inherited sight loss conditions and to develop novel therapies. She is also a Wellcome Trust Beit Prize Clinical Research Career Development Fellow and a Consultant Ophthalmologist at Moorfields Eye Hospital and Great Ormond Street Hospital for Children.
https://mariyamoosajee.com/

This recording is from the 5th European Aniridia Conference, an international networking event organised by Aniridia Network in association with Aniridia Europe, that was held online from 31st July to 1st August 2021.

Full Conference Playlist:    • 5th European Aniridia Conference  

The event received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575.

For more information and support about aniridia visit:
Aniridia Network - https://aniridia.org.uk
Aniridia Europe - https://www.aniridia.eu

Video editing and subtitles by Everywhere+
https://www.everywhereplus.com

Music License Code: UCXH4MPGSYLSYP8K