Newsletter ASXL Registry

A new update from the ASXL registry is given this month! This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. In this newsletter, the actual numbers of registered individuals were displayed. At…

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Long awaited BOS publication

The long-awaited sequel to the latest publication by Bianca Russell and her team has been released: “Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.” This follow-up to the publications in 2015 (Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing…

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Rare Disease Day 2022

Just 11 days to go! Rare Disease Day is approaching. Join our Bohring-Opitz Syndrome Family with these frames for your social media profile picture and show your support on Rare Disease Day on February 28th 2022! twb.nz/bohringopitzrarediseaseday2022 twb.nz/bohringopitzrarediseaseday

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Hola, amigos, fundación BOS de España

How amazing is that! The first foundation in Europe committed to advancing scientific research and to helping other families with Bohring-Opitz Syndrome. The initiators are Amaia’s parents, Juanfra López and Rosario Ruíz. Read more about their foundation and how you can help here: English below. ASALBO es fundada en marzo de 2021 gracias a la…

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2021 ASXL Family Conference – video

Presenters: Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) Experts Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) provide a research and clinical overview of Bohring-Opitz Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted…

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“We really aren’t different”

This episode of The Mental Health and Developmental Disabilities (MHDD) National Training Center features Campbell, a girl from Kentucky living with Bohring-Opitz syndrome. Michelle is her mother and caretaker and believes her time as an Occupational Therapist was what truly prepared her for the task of raising Campbell. The Mental Health and Developmental Disabilities (MHDD)…

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