I was incredibly lucky to be able to hear Dr Ed Wild speak at the Euro Camp 2016, I have heard Dr Ed speak several times before at the Huntington’s Association NI conference and as always he never fails to impress his audience.
I took notes of his talk and will try to explain it. He started off by asking when the best time to plant a tree was? We all thought today? He said ten years ago! But the second best time is now, today.
Dr Ed is based in London and works at ULL, he is a neutralist with the Huntington’s disease (HD) research team. Researchers help HD families find a cure; we are one big HD community without researchers the people suffering from HD would have no hope of finding a cure, and without patients the researchers would not be able to carry out research, family members are needed to continue HD research. Choera is a symptom of Huntington’s disease; the gene name was first II 15 (interesting transcript 15) in 1993 it was one of the first genes to be discovered. It took them ten years to find the gene and they sorted through 15 different genes, it was then discovered it caused HD, it was called the Huntington gene. This would have been a difficult enough job I’m sure as a person is made up of 20/30 thousand genes. Some basic information from Dr Ed, o A gene is a recipe for protein o DNA lives in your chromosomes o Chromosomes is a strand of DNA o DNA lives in the nucleus o Huntington’s disease is cause from a mutant protein o Your body cannot remake cells which have died o From the Gene was found until clinical trials began it was 23 years “In the past 12 months they have discovered what a HD protein looks like, and take it from me it looks like a big blog potato. “ Dr Ed showed us the picture of the protein, literally picture a pink blob! 1 in 10 will get Alzheimer’s 1 in 100 will get Parkinson’s 1 in 8000 will get HD How rare is this disease? Alzheimer’s researchers and people suffering from Alzheimer’s do not know what causes the condition, we know what causes HD! This is exciting times! “Huntington’s is the most curable incurable brain disorder”. I have heard Dr Ed say this for several years now and I will never tire form it. 2000/2003 there was an experiment done by an American/Japanese researcher where they took the HD gene and put it into a mouse and the mouse then got sick. They them manufactured a way to almost flick a switch and turn the gene off. The mice started to get better, protein that had built up in the brain had disappeared. Dr Ed used a great visual to explain HD, I will try and explain it to all of you reading, Picture bin lorry’s, they bring all the unwanted protein that your brain produces to the dump and it is disposed of. In a HD patient, the bin lorry’s work, but will eventually slow down and then stop; there is no mechanic to fix them. This then results in the bad protein building up and Huntington’s symptoms starting. “So is it possible to change the direction of Huntington’s disease?” If we can switch the gene off before symptoms start we could keep the people who carry the gene healthier for longer. It would then give people a healthy life expectancy. I remember the first few times I heard Dr Ed wild talk, he spoke of drug trials and ways to maintain the disease and to be honest I never in my wildest dreams thought it would be in my life time let alone how far along the trials have made it. Would you believe me if I told you the amount of clinical trials we have going on at the minute in the HD community. There are 14!! 14 trials at the minute! This is the most unbelievable news!! ULL are running 3 trials this year, and in the past ten years they ran three trials, what is this telling us? Just as Dr Ed said the second best time to plant that tree is today and today is a great time to be involved with Huntington’s disease. An example of a trial is gene silencing, ASO trial (Huntington lowering) ISIS/IONIS pharmaceuticals. It is difficult to get drugs to the brain; you have to inject drugs into the spinal fluid. Pills will dissolve in your stomach and injections into the blood will end up in your liver. The trial was tested on animals, in simple terms, they made mice sick, they then gave them the IONIS-HTTRX and the mice got better. In monkey trials the drug lasted around 3-4 weeks. On September 5th 2015 the first trial was given to a human, 36 people with early HD with a minimum age of 25. There were 3 sites in the UK, 1 in Canada and 2 in Germany.
Screening lasts up to 6 weeks and treatment is 4 doses 4 weeks apart. A follow up then comes 4 months later. 3 out of 4 people get the drug and 1 person gets a fake injection (the placebo). This trial lasts 8 months.
Ed told us about a drug trial that went so well they had to stop it in the middle. It was a condition called Hypotonia which means babies are born with no muscles; these babies sadly don’t live very long. The drug trial went so well that the babies responded to the drugs and started to get better faster than doctors expected. Imagine if this happened with the Huntington’s trials, it would be amazing to hear on the news or read an article about a drug trial being stopped half way through because it was doing too good a job! Ed started working with HD in 2005, gene silencing was just on the table, 9 years 11 months from Dr Ed started HD until the first injection. One of the biggest questions from the young adults was “What can we do to help with HD research?” Dr Ed gave some advice on this, o Volunteer for research o Drug trials which you are suited to He then explained what Enroll HD is, Enrol HD: this is the biggest study in the world of HD, in order to take part you sign a consent form, answer some questions, send a blood sample off, carry out some thinking tests and there are no brain scans. You can find out more information on their website, this is a rough outline of what happens. Researchers don’t know what people are doing in their everyday lives, are we doing anything that could help the HD research process. If you would like to be involved in HD trials, then you should get involved with enrol HD this would mean that the companies have all your information and would be able to save time gathering it if you suit a drug trial. I hope this helped you understand more about Huntington’s disease, I would recommend if anyone has the chance to hear Dr Ed Wild to jump at the chance! I hope I have done Dr Ed justice in explaining his thoughts, research and presentation on Huntington’s disease.
Remember: I am not a doctor or medically trained these blog posts are my own opinions and thoughts. This blog post is what I took from Dr Ed’s presentation at the euro camp, it is not necessarily what he said exactly word for word and he cannot be held responsible for anything I have posted here as I said previous this is my thoughts on his presentation.