There are just 50 days left until international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure.
The amount knowledge about BOS started small, with just four patients presented by Axel Bohring in 1999. Over the years, especially after the causing gene mutation was discovered in 2011, more and more cases were presented, compared with each other, similarities and differences were observed and finally last year the first article in which potential treatments for children with Bohring-Opitz Syndrome are discussed was published by Bianca Russell and colleagues.
Research on BOS not only has been presented within case reports, but it has focused also on research on the ASXL1 gene in model organisms (mice model and human stem cells) to increase a better understanding of the disease (process).
To comprehend Bohring-Opitz Syndrome/ASXL1 we need to think outside the box and must work together with related syndromes, including Brainbridge-Ropers Syndrome/ASXL3, Opitz-C Syndrome and the recently discovered group of patients with ASXL2 mutations.
We are confident that through enhanced cooperation more research and knowledge will be generated, which will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.
The year 2017 has begun – the year of RESEARCH. Let’s get started!
Bohring-Opitz Syndrome 