ARRE Foundation announces $545,000 investment in research for ASXL-related disorders
The ARRE Foundation is thrilled to announce a commitment of $545,000 in research for ASXL-related disorders, which include Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3). The research investments announced today bring the ARRE Foundation’s total investment in ASXL research to $1.3 million since the organization was founded by ASXL parents in 2018.
“This investment in research is possible because of the generosity and tenacity of the ASXL family community who continue to fundraise and bring new donors into the ARRE Foundation’s work,” said Amanda Johnson, ARRE Foundation Executive Director.
“We are also incredibly fortunate as a rare disease community to have passionate and dedicated clinical and scientific champions who are willing to work together to build this research infrastructure,” Amanda added. “We are thrilled to support this impactful work, driven by the dedication of ASXL families and strengthened by collaborations with research partners, all aimed at improving care and discovering treatments for families living with ASXL-related disorders.”
The Board of Directors, which is comprised of ASXL parents, approved these upcoming research investments in support of the ARRE Foundation’s research strategy including:
1) Building the formal body of clinical knowledge of ASXL-related disorders in support of improving patient care and preparing future clinical trials
$60,000 to support the continued operations and expansion of the ASXL-Related Disorders Natural History Study and ASXL Biobank; this is part of a new three-year research award totaling $180,000 to support the flagship ASXL clinical study
$75,000 to support a collaborative, multi-center clinical study focused on the collection of clinical data that is meaningful to ASXL families; this is part of a new two-year research award totaling $150,000
$20,000 in clinical pilot studies to bring new clinical research interest into the ASXL community while incentivizing use of the ASXL-Related Disorders Natural History Study and ASXL Biobank
2) Advancing the understanding of how the ASXL genes work in support of finding therapeutic pathways and potential treatments
$300,000 in research grants focused on basic and translational science for scientists to better understand the biology of ASXL-related disorders and look for ways to treat them
$90,000 investment in a drug screening program that will test FDA-approved drugs in fruit flies that model ASXL-related disorders; the goal of this study is to identify existing drugs that could potentially treat the symptoms of ASXL-related disorders
“While there are still many unanswered questions for families like mine, today’s announcement is another significant step forward in further supporting research that will bring more answers to ASXL families and their doctors,” said Laura Badmaev, founder of the ARRE Foundation, chair of the Board of Directors, and mom to Alex who has Bohring-Opitz Syndrome (ASXL1). “I am so proud of what we continue to accomplish as a community.”
