Today is BOS day!

Gold and Denim for Bohring-Opitz Syndrome Awareness Day April 6th

Good morning dear BOS Family,

Today, April 6th is Bohring-Opitz Syndrome Awareness Day. This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook, on April 6th 2011! This group has helped so many families to connect all over the world!

With this awareness day we want to encourages people to learn more about Bohring-Opitz Syndrome to improve the lives of children and their families and caregivers living with this rare genetic condition.

Why this colors? Many children with Bohring-Opitz Syndrome are suffering from high myopia. Contrasting colors like blue and yellow are the best perceived colors. Bohring-Opitz Syndrome is a rare genetic condition. Less than 60 cases are reported in medical literature worldwide. These are official numbers but here in our support group the number is now estimated to be closer to 200 families. However, throughout new diagnoses and available and better genetic testing, the number of children diagnosed with BOS became significant higher, Bohring-Opitz Syndrome is still ultra-rare and underdiagnosed. So that’s why we chose blue denim as awareness color for rare and genetic diseases. The second color is gold because our children love shimmering objects. And above all, our children are worth their weight in gold. The diamond is to honor all our children who became wings too early.

We are excited to see so much engagement for us, the BOS Family.

The Bohring-Opitz Syndrome Foundation is still dedicated to raise awareness for Bohring-Opitz Syndrome. In their press release (http://bos-foundation.org/blog/2019/4/5/spreading-awareness-of-bohring-opitz-syndrome-ultra-rare-syndrome-celebrates-its-day-in-the-spotlight you can read how they continue to strive to improve the quality of life for families living with BOS.

BOS Awareness Day (source: BOS Foundation)

Today is also the day that the ASXL Rare Research Endowment (AЯRE ) Foundation celebrates her first Anniversary. Happy Birthday AЯRE!

The AЯRE Foundation was born to support research that will increase our understanding of the ASXL genes and to improve the treatment of individuals with congenital ASXL mutations. 

The leading cause for Bohring-Opitz is a mutation in the ASXL1 gene. ASXL1 belongs to human gene family with 3 members (ASXL1, ASXL2 – Shashi-Pena, and ASXL3 – Bainbridge-Ropers). There are many similarities between these three groups and they have much more in common than different.

ASXL Diagram by Caitlin Calder (source: http://www.arrefoundation.org)

AЯRE key tenets include good stewardship of our resources and transparency. For this day the AЯRE Foundation published her donor summary: https://www.arrefoundation.org/arre-donor-summary-2018.

Priorities of the AЯRE Foundation. Donor Summary 2018. (Source http://www.arrefoundation.org)

However we sometimes have the feeling that too little is known about the syndrome,  researchers are continue working on Bohring-Opitz syndrome. Did you know that in the past year that more than 10 new publications have been published about BOS?

We would like to highlight the work of Dr. Bianca Russell and Dr. Wen-Hann Tan, who have done amazing progress in the research history of Bohring Opitz Syndrome due creating the Bohring-Opitz Patient Registry. If you haven’t enrolled yet, please consider to participate to the patient registry. Only research is creating new knowledge!

On the last ASXL conference in Los Angeles Dr. Bianca Russell (The first year of the Bohring-Opitz Patient Registry ) and Dr. Wen-Hann Tan (ASXL1 Clinical Discussion) gave presentations about ASXL1/Bohring-Opitz. You can read and watch the presentations on the News Page of the AЯRE Foundation. The latest publication of Dr. Bianca Russell and Dr. Wen-Hann Tan  you can read here:  Bohring-Opitz Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK481833/) If you are interested to learn more about Bohring-Opitz, you find more articles on our website.

We are optimistic for the future of the BOS Family and looking forward to see all your personal creations and how you mark this special day! Let’s bring together children living with BOS, their families and caregivers out of isolation and put them in the spotlight by wearing GOLD & BLUE DENIM on April 6th!

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