NEWS

RDD 2020 BOS video

It’s #RareDiseaseDay! Anna Doggett, Contracts Administrator of Quanticate, shares how her family has been impacted by Bohring-Opitz Syndrome, a #RareDisease with only 200 diagnosis worldwide. Thank you so much, Anna and Quanticate for this amazing video about Bohring-Opitz Syndrome. Below you find her speech written. “Hello, I’m Anna and I work at Quanticate! Today we…

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BOS and monogenic obesity

In Case Report “The tale of two genes: from next-generation sequencing to phenotype” an 18-year-old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 – Bohring-Opitz Syndrome. In addition, a maternally inherited and likely pathogenic variant in the MC4R…

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Infant Massage Techniques

Published by Oxford University Press the doctors B Herd, J Chiang, M Patterson, V Regueiro concluded in their recent article “The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome” that infant massage can offer initial support and they suggest that further research is needed to integrate infant massage into the…

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Last minute project

Here our last minute project for our awesome Bohring-Opitz Dads: A Jumping BOS. Just download the printable Bohring-Opitz Syndrome Jumping BOS Dad, cut and assemble. Happy Father’s Day! Do you have a Bohring-Opitz Super Hero? Download here your printable “Bohring-Opitz Super Hero Jumping Jack”. Do you like it? We really appreciate your consideration to make…

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BOS/ ASXL Conference

The 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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