Community and Huntington's Disease
So far, I've written about my experience with free and open software, coding and the like. However, in real life I am a physicist, researcher and data scientist.
While I really enjoy being part of an incredible community of coders, hackers and freedom activists, I realized that I already am part of a great community that I want to shed some light on here.
On Huntington's Disease
I work in the George Huntington Institute (GHI) in Muenster, Germany. It is the first institute dedicated for research in Huntington's Disease and clinical care for people suffering from Huntington's Disease.
Now, what is Huntington's Disease (or HD)? Scientists might say, HD is an autosomal dominant neurodegenerative disease that is caused by an overlengthy CAG repeat on the short arm of chromosome 4.
Here is what that means: The disease is inherited. A person with the gene mutation on one allele has a 50%. The mutation is an amino acid triplet repeat (those things our DNA is made of), that repeats longer than it should, it's called CAG - short for the amino acids cytosine adenine and guanine. People with that specific gene mutation will inevitably evolve symptoms sooner or later. Depending on the CAG repeat length, they may start showing symptoms between an age of 30 and 50. Very long repeats even cause a juvenile disease type that shows symptoms in early ages, with a vast disease progression and early death.
While the complete pathways of the disease are not fully understood yet, it is assumed, that the gene mutation causes a production of a miss folded protein (Huntingtin) with a toxic effect, that causes cell death especially on neurons, causing brain cell atrophy. Developing symptoms by the age of around 40 is the most common case. With constantly worsening symptoms, the disease ends in death after approximately 10 years after clinical onset.
Affected people describe the symptoms as a mixture of ALS, Parkinson's Disease and Alzheimer's Disease. The symptoms range from movement disorders (involuntary movements, chorea), cognitive decline and psychiatric disorders (apathy, depression).
To date, there is neither a cure nor a therapy to even slow down progress of the disease.
Since the disease is inherited from the parents you could call it a family disease. With no cure available, community is by far the most important thing for people affected with HD. Being affected does not necessarily mean being a gene carrier. Every part of of a family is affected, like every spouse or partner is, or close friends. While there are a lot of clinical trials going on right now, time will show if the promising approaches will show an effect. Hope and community is all there is, so far.
Since I started to work in this field in 2013 my life has changed significantly; even I as a researcher would call me an affected, and I feel like being part of the community. And it's a strong one. Sophisticated networks have been built up in Europe and the USA, while other countries are following the example. Projects like We have a Face and HDdennomore (pronounced hidden no more) raise the awareness for the disease, to end the hush-up and shame that is common in affected families.
Projects like HD Buzz, a platform that "translates" scientific articles into human readable language, help to connect researchers and families; I don't know any field of research where the scientists are so much connected and dedicated to the people they try to help. This is the most awesome field I've worked in so far, and I won't stop until there is a cure.
Another important factor that helped building this strong community is the CHDI foundation (Cure Huntington's Disease Initiative), the largest funder of HD research. While other research fields are dominated by keeping results secret and save, showing elbows against other researchers and fighting for survival, CHDI somehow managed to establish a very prolific exchange between HD researchers worldwide.
Why do I write this article?
For myself, I am very grateful for being part in two such great communities. My science heart and my coder heart have a home now and the perfect basis to grow smarter and to contribute back to the community.
However, while I feel happy of being able to express myself in a blog post, it is important that you know. If you read about Huntington's Disease for the first time now, or if you learned aspects you did not know before, this is great. It's important that you know. Not to be known, not to be recognized can be fatal. Read more if you're interested, spread the knowledge. Awareness may not only help affected, but will also contribute in raising funds to further improve and speed up the research. For many HD patients every day counts.
Community is the driver that gives and preserves hope. It allows fast progress and it allows for exchange between veterans and newcomers, providing the fundamentals of solving issues sustainable. I've seen talks lately (cannot seem to find them right now, will add the reference later) of people talking about community. It turns out, I'm not the only one thinking this way. I am searching for like-minded people, always. Thanks to the internet, finding them has become so much easier.
As for Huntington's Disease, I am certain that a cure can be found and it takes a strong community. Maybe you can become a part of it as well.