Responsible Gene for Bohring-Opitz Syndrome
Unique has published a new leaflet about Bohring-Opitz Syndrome (BOS)! Written by Dr. Joanna Kennedy1 and reviewed by Professor Ruth Newbury – Ecob2 this information guide is an exceptional user guide designed to help families, caregivers, educators, and medical professionals, alike, understand and plan appropriate care for children with Bohring-Opitz Syndrome. Unique, winners of Eurodis Patient…
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On the occation of Rare Disease Day last year we published 29 #BOSFACTS. A year has past and these facts about Bohring-Opitz Syndrome are still up to date. The Rare Disease Day slogan is this year ‘With research, possibilities are limitless’. Let’s go for it! #BOSFACT 1 RARE Bohring-Opitz Syndrome is RARE – fewer than…
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Today is the international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure. BOS is an ultra rare disease with less than 60…
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Having a child with Bohring-Opitz Syndrome (BOS) is an ongoing learning process and can be challenging at times given the complexity of the illness, especially since there is still little known about the clinical management of children with Bohring-Opitz Syndrome. We, parents and caregivers, are always looking to find the best way to improve the…
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This video about Xan is just too beautiful not to be shared. It touched me in so many ways. Xan has Bohring-Opitz Syndrome. His mother Danielle brings us in a stirring manner to consciousness how strong and inseparably but also so ethereal and impermanent love, light and life to our children are bound together, yet…
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We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children. Face2Gene is a genetic search and reference tool powered by…
Read MoreWe are so excited! The new Trailer of KULUUT is promising to be a great documentary. A documentary made by C Amzing Films about a family with an extraordinary child with a rare syndrome, the Bohring-Opitz Syndrome, but most of all about the happiness of the family, even when they experience some difficult times. See…
Read MoreWe, the Bohring-Opitz Syndrome Support Group, are supporting the FDNA (Facial Dysmorphology Novel Analysis) project ‘Face2Gene’. Bohring-Opitz Syndrome (BOS), which has with less than 60 children recognized in medical history, is a very rare genetic disorder and knowledge of BOS is still in its early stages. By supporting the groundbreaking Face2Gene project we want to be at the forefront of…
Read MoreWow – This is very interesting and special for us! Today the first study about clinical management of children with BOS by Bianca Russell and colleagues is published! http://onlinelibrary.wiley.com/…/10.…/ajmg.a.37131/abstract…
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Bohring-Opitz Syndrome/ASXL1 