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 IT RESULTS FROM A RANDOM GENETIC CHANGE IN ASXL GENES THAT OCCURS AROUND CONCEPTION AND CAN AFFECT ANY PERSON.

AЯRE will support research to increase our understanding of the ASXL genes and
improve the treatment and management of individuals with congenital ASXL syndromes.

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ASXL Conference 2019

 

We are thrilled to announce the 2nd ASXL Conference at the University of Michigan, Ann Arbor!

This international ASXL Conference in Michigan will provide information and support for professionals, health care providers and families as well as advocation on behalve of individuals with Bohring-Opitz (ASXL1), Shashi-Pena (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).

Join us and register by July 5.

Registration is FREE of charge for all families.

For families and professionals that plan to attend virtually via livestream
and/or live polling, please also register for this conference.

We hope to see all of you in July!

Agenda

Agenda

Register

Register

Travel & Logistics

Travel & Logistics

 
 
 
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ASXL Syndromes

Many children have global developmental delays (e.g. cannot sit, walk, talk, feed themselves) and complex medical issues including severe neurological and respiratory issues. Most individuals are completely dependent on caretakers for every aspect of their care.

Bohring-Opitz Syndrome (BOS/ASXL1), Bainbridge-Ropers syndrome (BRS/ASXL3), and Shashi-Pena Syndrome (SPS/ASXL2) are under diagnosed due to challenges recognizing the diagnosis, shortage of genetics services, and the cost of genetic testing.

These children have complex clinical issues and often see specialists who do not have the knowledge or experience to properly manage their care due to the rarity and unknowns of their syndrome. There are few evidence-based publications for reference and significant unknowns about the mechanisms behind ASXL syndromes.

 
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Research

AЯRE will support basic scientific and clinical research that can further characterize the molecular causes and pathogenicity of the ASXL gene family, improve medical care plans, and meet the needs for families who face extraordinary challenges and uncertainty.

Through research, AЯRE aims to improve the quality of life for these individuals and their families:

  • Prevent health risks through early identification

  • Improve existing options through research

  • Inform parents and caretakers so that they can better advocate for the care their child needs

AЯRE will bring together the major medical and scientific leaders who are studying the ASXL genes and provide opportunities for physicians and researchers to present and share their work through collaborative methods. In addition, AЯRE will support the collection of medical data/samples, communicate new developments, discuss care management strategies, and foster a supportive community.

 
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AЯRE News

To learn best practices, find resources, and learn more about progress toward our mission, please visit our AЯRE News.

 
 
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Ways to help

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