The 2nd ASXL Conference will be held at the University of Michigan, Ann Arbor! The 2019 ASXL Conference (July 19-21) will include informational workshops, equipment and therapy fair, family focus groups with medical specialist facilitators, opportunities to submit samples for biobanking and enroll in the ASXL registry, bbq with therapy dogs at the park, and…
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Today is BOS day!
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…
Read MoreBOS Patient Registry 1st Year
Did you know that more than a half (55%) were not suspected to have Bohring-Opitz? Read and watch more interesting findings of the BOS Patient Registry by Dr. Bianca Russell en Dr. Wen-Hann Tan! This presentation was given at the ASXL Symposium of the AЯRE Foundation in Los Angeles. Watch also the livestream of the…
Read More#RareDiseaseDay #29BOSFacts
On the occasion of Rare Disease Day we published 29 #BOSFACTS two years ago. Annother year has past and these facts about Bohring-Opitz Syndrome are still up to date. But there are important news for the Bohring-Opitz Family: Research on Bohring-Opitz Syndrome are still going on and more medical articles about Bohring-Opitz Syndrome are published.…
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Year of AЯRE
We would like to share you the amazing journey of the AЯRE Foundation. ASXL Rare Research Endowment (AЯRE) Foundation was launched in April to support research that will increase our understanding of the ASXL genes and to improve the treatment of individuals with congenital ASXL mutations, and it has been quite a year! These are…
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Happy Holidays
The magic of Christmas never ends and it’s greatest of gifts are family and friends. Wishing you a season of gladness, a season of cheer, and to the top of it all, a healthy and wonderful year! Merry Christmas & Happy New Year!
Read MoreAsxl1 loss effects lung maturation
An important step towards a better understanding of the mechanism of ASXL1 mutation and Bohring-Opitz syndrome! Little is known about the role of an ASXL1 mutation in the organ development. “Recent studies using Asxl1-null mouse models indicated a critical role for Asxl1 in development. Depending on the model, Asxl1 loss causes embryonic lethality and developmental…
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BOS Meeting Point
Having support and community resources can help increase your confidence in managing Bohring-Opitz-Syndrome (BOS), enhance quality of life, and assist in meeting the needs of other family members. Parenting is often challenging, and parenting a child with a chronic condition like BOS can add additional stress to the day-to-day challenges. It’s important to remember you’re not…
Read MoreASXL Conference – registration now open
More information about the first Research Symposium about all ASXL Families you can find on the website of the AЯRE Foundation. Register here:
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Bohring-Opitz Syndrome 