Day not too sure what day it is update: What a day! Think weve thought and said that everyday for the last 5 weeks but today was special (think weve thought that everyday too) Today we went to Massachusetts Eye and Ear. Firstly, Ill try to put this in context. Boston has over 30 Universities. It has MIT and Harvard and you could easily bump into a Nobel prize winner in the street. This is a smart city - you can see it, you can feel it. So the people you meet here commonly work at the bleeding edge of their profession. First we met John Fernandez, the President and CEO of Mass Eye and Ear who popped in with some gifts for Louis. Then we talked with Dr Eric Pierce, one of the leading researchers in genetic assessment of retinal degeneration. His role is to find the piece of gene in people like Louis, that is miss-functioning so we know the target to work on. (by the way, hes a big fan of the South Island of NZ having been there with his wife last year) First bit of good news. A recent trial in 6 people with RP in the UK produced beyond expected results in eyesight improvement. And more improvements are being made with new trials. So there is the beginnings of a treatment for some of the RP genes (there are 100 RP variations and another 19 variations of a similar condition, LCA). Scientifically, this is big news. Personally, it provides a LOT of hope and people like Eric are immersed in this everyday. Go Dr Eric, go. By the way, he also said that research Id read on using synthetic THC (i.e cannabis ) to halt RP was correct. Interesting. Then we met Frank, another man with a huge brain a big smile, who is in charge of the million dollar machine (that goes bing .... for Monty Python fans) that sequences genes. In his words, his job is to read a genetic novel as dense as War and Peace and find 1 misspelled word. That misspelled word, is the gene that needs correcting. Correct it, put it into Louis and his retina will regenerate - thats the end goal. But we have to get the corrected gene into Louis. And thats been a big problem with gene therapy overall - researchers use deactivated viruses as the vehicle to transport gene therapy to the right cells. Unfortunately, our bodies are deign to repel invaders so it kicks the deactivated virus out or prevents it spreading to where Louis needs it. So then we go to see Luk Vandenberghe in his lab where he has 10 people with Phds in one room doing post doc research. This room hums with brain power. Luk, like everyone weve met, is very generous with his time and knowledge. This man and his team are another of the keys to treating Louis RP. He shows us the whole system of processing DNA. Fascinating. (remember, theres a 12 year old and a 15 year old seeing all this who have also in the last few days, been to Google, NASA robotics lab and now a gene therapy and DNA lab - they dont realise it yet, but this is all life changing for them and letting them think BIG about what they can do, be and change in the future. And youve done this) Second bit of good news. Hes onto something. Its good, really good. And I cant tell you yet :-( But it gives us great hope for Louis, his brothers, and a lot of other people. Without coming here personally, we wouldnt have known about this for 12 - 18 months, maybe longer as thats the timeframe for research papers to be reviewed and published. Being here, meeting the Mass Eye and Ear team, seeing and hearing what is happening right now, first hand, is priceless. Thank you all. We are now filled with hope. So how do you cap that sort of morning? First, you go to lunch at a prison thats been turned into a luxury hotel then you go to your first ice hockey game to watch the Bruins play. We dont have ice hockey in New Zealand so this was really special and the US is soooooo good at sport-tainment. They squeeze entertainment out of every minute. So impressive, so professional Then, you come home and crash! Louis has grown so much in the last week. Still doesnt like eye specialists (sorry Eric, I tried to tell him you were not that type of specialist but it is a bit hard explaining gene therapy!) but he now handles pretty much any situation with confidence - a key foundation stone we know hell need. Hes also seeing the power of generosity and how it multiplies exponentially (Ive been hanging around uber smart people all day, I can use big words now!) Again, thank you all. Today couldnt have happened without you.
Posted on: Wed, 05 Mar 2014 07:22:14 +0000
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