FAST Global Summit & Gala 2021 in Austin, Texas
Flying back home from Austin, where FAST Global Science Summit dedicated to Angelman Syndrome took place in December, I was thinking of how amazing it would be to organise something of a similar scale in the UK and every other country for that matter.
FAST Global Science Summit & Gala is an annual event organised by FAST in the US to update the community on research for Angelman Syndrome, which is currently incurable, and the progress made over the last year on therapeutics and potential cure for the condition. Scientists working on it share outcomes of their work and Pharma companies update on the progress in clinical trials. The event also includes a fundraising Gala night that brings the community together and attracts funding for further research.
When Emily, my now 21-month-old daughter who has Angelman Syndrome, was first diagnosed, that same evening, my husband and I googled every single thing we could find on the Internet about it. We came across a FAST presentation by Dr Allyson Berent, Chief Science Officer at FAST, on the latest developments in therapeutics and a potential cure. After learning that most individuals with Angelman Syndrome don’t talk and have problems walking along with having a severe cognitive disability as well as seizures and plenty of other unpleasant things, we wanted to understand what is the prognosis and is there any reaseach into treatments.
I remember watching her presentation, probably only digesting 5-10% of the information at that time, and Allyson made a joke about something – not related to the research, but it was part of her speech. I thought to myself then, “How can she joke about anything in the context of Angelman Syndrome?” My life has just been turned upside down, and her presentation seemed to be too cheerful in a way. How can anyone continue to find joy in anything after their child was diagnosed with Angelman Syndrome?
How silly I was!
Not only Dr Allyson Berent is now my favourite person in the Universe (after Emily and my husband, of course!), but I also can make jokes and laugh again. I honestly thought I never would be able to that evening when I first watched a video with Allyson.
Anyway, going to the US and seeing so many scientists working on finding a cure and learning about their research made me even more hopeful that some kind of therapeutics will be found in our lifetime.
Let me explain what I understand about the state of the research and the critical problems that need to be solved before the cure can be found.
FAST is sponsoring the research and supporting the clinical trials – there are 4 live human clinical trials at the moment globally.
The way I see it, there are three fundamental problems that need to be solved before Emily has a chance to learn to speak:
1. The drug itself has to be developed. As you know, Angelman Syndrome is caused by a missing or dysfunctional UBE3A gene. Various approaches are being investigated, and one of the most promising ones is an antisense oligonucleotide (ASO). It focuses on “un-silencing” a healthy paternal copy of the gene that is naturally silenced in the neurons. Other methods, including gene therapy and gene engineering, are looking to do the same or even introduce a new working gene into the cells.
2. Secondly, that drug has to be delivered safely to all necessary parts of the brain. This bit is very challenging – not that the first bit is less complicated! Currently, options being considered include injection via a lumbar puncture (used in the GTX-102 clinical trial, for example) and a medication that you can take orally. These delivery methods are highly dependent on the type of therapeutics. A related question here is how often these drugs need to be administered. Ideally, it would be a one-off fix. This can be potentially done via gene therapy like ZolgenSMA for Spinal Muscular Atrophy – I’m personally very hopeful for a solution like this for Angleman Syndrome. However, all current clinical trials involve periodical administration.
3. Lastly, we all need to make sure that we don’t break something else while pursuing the primary goal of having more UBE3A in our children’s brains. This can be addressed by ensuring that the dosage is appropriate and fit for each genotype. Also, when talking about gene therapy, since it’s still a very much developing territory for humanity, we need to consider all possible risks and weigh them.
I’m super excited and very grateful for FAST sponsoring all areas of research addressing these challenges.
We learnt at the summit that there are now pig models with AS that can be used for clinical trials to assess safety and efficiency. They are more appropriate for testing as they are closer to humans than rats and mice.
To sum up, there are four live human clinical trials at the moment, and the scientific community is very excited about the progress made so far and the hope it brings to families affected by Angelman Syndrome.
As my husband and I continue to learn about the fascinating world of genetics and occasionally dream about a cure, I hope it’s found sooner rather than later.
Surprisingly to me, there are many people in the community saying that a cure will never be found, and some even think that it shouldn’t be found as there is nothing to cure.
I can’t entirely agree with it. At least, at this point. If I can give my child a life where she has her voice, can walk, and live independently, I definitely would. I can’t imagine any parent who won’t.
I’d rather die hoping for meaningful therapeutics for AS than losing hope for it, especially when people who know more about genetics and rare diseases than I do think it’s possible.
That is why I spend all my time outside of full-time employment and caring for Emily helping raise awareness for Angelman Syndrome and thinking of ways to increase the fundraising. Fundraising is crucial to speed up the process. We all know it based on the example with Covid-19. The progress is quick when you have so many resources dedicated to the cause. Given that Angelman Syndrome is a rare condition and most people have never heard of it, it’s tough to bring more funding and corporate partnership.
For a quick recap of FAST Global Summit & Gala 2021, please visit FAST Highlights Research Advancements at 2021 Global Science Summit and Gala.