Look Forward – Winter 2023 – Issue 181
Inside this edition, register now for our AI webinar on 7 December with Dr Nikolas Pontikos.
Search
Search results
Autosomal dominant inheritance
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
Edinburgh Local Peer Support Group
Thursday 19 September, 11.00am - 1.00pm - In-person - Come and join us at the Princess Alexandra Eye Pavilion for a special focus group with Dr. Roly Megaw.
Meet a Researcher: Tomasz Tomkiewicz
Tomasz Tomkiewicz is undertaking a PhD studentship funded by Retina UK and The Macular Society.
Significantly worse vision found in female carriers of X-linked RP and Choroideremia
It was previously believed that female carriers of X-linked inherited retinal diseases (IRDs) like X-linked retinitis pigmentosa (RP and Choroideremia) remained unaffected by sight loss.
Meet a Researcher: Stéphanie Cornelis and Mubeen Khan
The project aims to develop a cost effective method of examining the entire ABCA4 gene to look for variations that might cause disease.
New mechanism of disease discovered for Retinitis Pigmentosa
The team have found the cause of disease in the first ever family tree drawn up at Moorfields Eye Hospital over 35 years ago, which had remained unsolved until now.
Retina UK-funded discovery leads to $2.5 award for further research
A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million, enabling scientists to undertake more in-depth investigations and work towards a treatment for a particular type of retinitis pigmentosa.
Involving our community
Our community is informed and knowledgeable about current research projects into the cause(s) of and treatments for these conditions.
x-linked inheritance
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.