Elaney’s Story

Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our baby girl.”
Thank you, Gina, for sharing your story of Elaney with us today!

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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…

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BOS 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…

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#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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Asxl1 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…

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BOS Gen found in a boy and ExAC

Again 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…

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