The study, published in the journal Scientific Reports, identifies the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia, which affects only sixty people in the world. The identified mutation in the gene MAGEL2 coincides with the one seen in some patients with another minority disease, the…
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Thank you
A big THANK YOU to you all who have given attention to Bohring-Opitz Syndrome on the international celebrated Rare Disease Day. Thank you for changing your profile picture to spread the word of Bohring-Opitz Syndrome and Rare Diseases, thank you for sharing information about Bohring-Opitz Syndrome like #BOSFACT and BOS infographic to give your family…
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29 Facts about BOS
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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Rare Disease Day
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…
Read MoreDefying Mendelian Genetics and “Embryo Engineering”
– by Ricki Lewis, PhD: Defying Mendelian Genetics and “Embryo Engineering” Mendel’s laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both mutations and the associated health…
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Best Practice of BOS
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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Congratulations!
Last week Kuluut was selected as a semi-finalist for the Hollywood International Independent Documentary Awards. Charlotte Driessen, and therefore Kuluut, won the Award for First Time Filmmaker! This is the official certificate and a VIP invitation to the yearly festival in March 24, 2018, in Hollywood will follow. It was an honour for many of…
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XAN
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…
Read MorePhenotypic spectrum of BRS – new study
In this study Dr Meena Balasubramanian present 12 new patients with de novo, heterozygous, loss-of function mutations in ASXL3 and review the to date published literature. Together with the recently published six patients of Kuechler et al. there are now 27 published cases of Bainbridge-Ropers Syndrome (BRS/BRPS). The patients, identified by the Deciphering Developmental Disorders…
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Bohring-Opitz Syndrome/ASXL1 