U.S. Social Security Administration adds Bainbridge-Ropers Syndrome to Compassionate Allowances program
Bainbridge-Ropers Syndrome (ASXL3) has been added to the U.S. Social Security Administration's Compassionate Allowances program, speeding the path to approval for disability claims for individuals with Bainbridge-Ropers Syndrome.
Updated tumor screening guidelines for Bohring-Opitz Syndrome
The ARRE Foundation’s Medical and Scientific Advisory Board releases update tumor screening guidelines for children with Bohring-Opitz Syndrome.
ARRE Foundation Awarded PCORI Funding to Engage Families in Research
The Patient-Centered Outcomes Research Institute (PCORI) has selected the ARRE Foundation for a $99,982 Eugene Washington PCORI Engagement Stakeholder Convening Award for a project titled, “Defining and Prioritizing Research Questions and Outcome Measures for ASXL-Related Disorders.” The project will engage caregivers, clinicians, and researchers in further defining the lived experience of families in the domains of neurodevelopment (cognition and communication), behavioral dysregulation, and gastrointestinal-related concerns.
Congress Recognizes Rare and Ultra-Rare Genetic Syndromes
If signed the $1.7 trillion spending package is signed into law, ASXL-related disorders and Angelman syndrome will be recognized by Congress and President Biden.
5 reasons to be excited about the ASXL Research Symposium and Family Conference
The 2022 ASXL Research Symposium and Conference isn't just a chance to get together: it's a slingshot forward for the ASXL syndrome community as we seek to learn more about the ASXL genes and how to provide the best care for our children.
Register now for “Ask-a-Researcher” with Dr. Rosanna Weksberg
Join Dr. Rosanna Weksberg and her team to learn about their study of the patterns of DNA methylation, or signatures, associated with changes in the ASXL genes.
National Volunteer Week spotlight: Julie Lopez
Julie Lopez, mom of five kids, including her youngest who has Bohring-Opitz Syndrome, serves as the volunteer lead of the ASXL Professional Network & Research Committee.
ARRE Foundation shares family survey results
The ARRE Foundation conducted a survey of families from February 25 to March 8, 2021. Over 80 families from 7 countries responded to the survey. Feedback from the survey will help inform the ARRE Foundation’s 2021-2023 strategic plan.
ARRE Foundation appoints Amanda Johnson as Chief Development Officer
Johnson will serve as the organization’s first staff member and will oversee fundraising, marketing and communications, and outreach events to support the ARRE Foundation’s mission of advancing research and improving quality of life for ASXL-impacted children.
Research grant spotlight: Dr. Val Arboleda (UCLA)
The ARRE Foundation funded Dr. Arboleda’s research proposal which aims to “develop the knowledge base and molecular assays to eventually be able to rapidly screen for potential drugs that might help individuals with Bohring-Opitz Syndrome.”
Hang on: Glass half full in a COVID world
While isolation and uncertainty are new for many people in this new COVID world, they are familiar experiences to many rare disease families like ours.
Throw out the expectations playbook and visit Wonderland
Instead of focusing on all the things that these children cannot do, reposition your mindset to what they enjoy and create inclusive experiences with them.
2018 Inaugural ASXL Research Symposium - a GREAT success!
At the first-ever ASXL Research Symposium, physicians, researchers, providers, and families from around the world gathered at the UCLA Luskin Conference Center to discuss scientific and clinical research of ASXL syndromes and brainstorm ideas for the ARRE Foundation research strategy.