Today Thanos had his first year talk at the institute; a rite of passage on his road toward PhD. It’s always great to see these talks as it is usually a time when things really kick into place. Thanos talk was really fantastic – polished and professional – and thoroughly appreciated by everyone there.
Thanos’ Fight for Sight funded research is working toward a new therapy for the rare ocular disorder “aniridia” (RNIB description here). In addition to myself, he has two corneal surgeons as co-supervisors; Prof Colin Willoughby at the University of Ulster and Mr Sajjad Ahmad at UCL, their input helps ensure that our molecular biology research stays clinically focused.
We’ll add a more complete description of his project to these pages soon – for now, here’s just a little taste…
Aniridia is a whole eye disorder which worsens with age. Problems include corneal failure, glaucoma, dislocated lenses, optic nerve problems and the iris defects from which it gets its name. It is a painful and serious condition.
The most common cause of this disease is an inherited mutation in the gene PAX6 with most mutations leading to loss of function of the one copy of the gene. In the patients, the functional PAX6 gene that they does produce enough protein to serve its normal purpose – a situation termed “haploinsufficiency” (no comments on the Greek derivation of this word are allowed).
Thanos’ work aims to increase the expression of the functional copy of the gene and therefore increasing the amount of pax6 protein produced. This should slow or stop the progression of the disease and we hope that it could even reverse some of the symptoms. Today he presented some of his very promising data from corneal cells in culture which suggests that his approach can work. From this he got some useful feedback from other academics in the institute.
There is a way to go yet before we have a therapy but we will soon move into more complex model systems and preclinical models. There are exciting signs so far and looking good for more exciting times ahead.
Regular readers of the blog may have spotted that our cartoons sometimes hit upon Thanos’s pragmatic nature. As you would expect, the cartoons are an exaggeration! Thanos is isn’t as negative as we make out, indeed in the last few weeks as some of the challenges associated with his project have begun to be overcome he has been positively buoyant! So, for balance, here is a more recent pic of Thanos in the lab.
NB – Usually I call these posts “they grow up so fast” but that feels a bit weird swith someone who is almost my age!
LaNts and Laminins 