All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Join this welcoming, safe, and friendly place and be able to participate and receive important treatment information. We, parents and caregivers from 60 countries, might not know all the answers, as you, we are always looking to find the best way to improve the life of our child with Bohring-Opitz Syndrome (BOS). But – together we are not…
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ASXL Natural History Study This registry, formerly called the ASXL Chromatin Disorders Registry/ASXL Registry, has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. A well run registry helps produce scientific literature and leads to…
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“All the lessons you have learned along the way, all the strength you’ve gathered, all the ways in which you now better understand unconditional love, and kindness, and the value of life — all of that is what makes you the wonderful mother you are and exactly who your child needs.” – The Mighty HAPPY…
Read MoreThe 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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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 MoreDid 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 MoreOn 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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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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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 MoreAn 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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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…
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Bohring-Opitz Syndrome/ASXL1 