Name of condition
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.…
Read More
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…
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…
Read More
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 MoreAgain the recent publication by Urreizti et al. shows that pathogenic gene variants are part in a reference database should be taken into account. In order to assess genetic variants, reference population databases such as the Exome Aggregation Consortium (ExAC) database are part of researches. It is assumed that in this population database pathogenic gene…
Read MoreA new case report at Kagoshima City Hospital, Kagoshima, Japan describes in a newborn with Bohring-Opitz Syndrome Pulmonary Hypertension (PH). Children with Pulmonary (= lungs) hypertension (= high blood pressure) have small passageways, blood vessels, in the lungs and because these passageways are so narrow, there is a very high blood pressure in the pulmonary…
Read More
Bianca Russell, Wen-Hann Tan and John M Graham have published a new comprehensive overview about Bohring-Opitz Syndrome (BOS) in GeneReviews. After the publication of the Unique leaflet by Joanna Kennedy (2017), the “Clinical management of patients with ASXL1 mutation and Bohring-Opitz Syndrome […]” by Bianca Russell and colleagues (2015) and previously published article about BOS…
Read More
Bohring-Opitz Syndrome 