2018 Inaugural ASXL Research Symposium - a GREAT success!
At the first-ever ASXL Research Symposium on Friday, July 27, physicians, researchers, providers, and families from around the US and Europe gathered together at the UCLA Luskin Conference Center to discuss scientific and clinical research of ASXL syndromes -- ASXL1/Bohring-Opitz Syndrome (BOS), ASXL2/Shashi-Pena Syndrome (SPS) and ASXL3/Bainbridge-Ropers Syndromes (BPS) -- and brainstorm ideas for the ARRE Foundation research strategy.
" While this step is only the beginning, we dream big and believe that each step brings us closer to our vision. We aspire to create ASXL Centers of Excellence around the world with medical specialists who see numerous ASXL patients and who can help families effectively manage their child’s complex care. The ASXL Centers of Excellence will be networked and will continuously exchange information & learn from each other. We want to leverage Artificial Intelligence & Big Data to accelerate data analysis & development of potential treatments. Research will also improve preventative health care and the quality of life for our families"
- Laura Badmaev, Chair, ARRE Foundation
Prior to the Symposium, ASXL geneticists facilitated a medical clinic for families where they obtained critical data for the curated registry, which is a robust, IRB-approved, and on-going data collection tool for research. They also collected skin biopsies & blood samples for a new ASXL biobank at UCLA. The biobank will make cell lines available for researchers around the world who want to study ASXL syndromes.
ARRE Foundation also arranged for ASXL syndromes to be included in FaceBase, an NIH database and toolset that aims to enable clinical diagnosis of various conditions using 3D facial photographs.
At the end of the Symposium, ARRE Foundation Chair Laura Badmaev facilitated a discussion panel with ASXL parents to share their experiences and wisdom. Linda Hilton emphasized the importance of advocating for your child, trusting your gut (even if you need to challenge the team of doctors), and focusing on your child’s abilities. Sheri Bermejo talked about writing Eva’s story to the medical insurance company president to explain the criticality of the equipment her child desperately needed, which helped to obtain the approvals required. Scott Morrison discussed the importance of the Facebook communities as a network to share information and data, which needs to be compiled and analyzed and then developed into a resource that is distributed and searchable for families. Michelle Koo highlighted the value of early intervention therapy, not limiting your child to his/her diagnosis, and finding the doctors/therapists who will help advocate for your child.
Overall, it was a hugely successful conference and the feedback from the surveys has been incredibly positive.
“I loved hearing the doctors speak and hearing all of the latest information about ASXL. We sometimes have received information third hand, but it was really nice to get it first-hand. It is very reassuring and exciting to know they are finding new information.”
“This has been a very important first step in seeking practical solutions and help for children and parents affected”
“Thanks again for organizing such a successful symposium.”
After the Symposium, the families met for an informal dinner and shared their stories, experiences, and challenges. At the same time, the symposium speakers met for dinner and had an engaging discussion about research ideas, funding opportunities, and plans for our 2019 conference.
Caitlin Calder, Bainbridge-Ropers mom of Della, shared an excellent summary from her conference learnings of the ASXL syndromes, their commonalities and differences:
Sunne van Gemert-Godbersen & Sheri Bermejo for their tremendous assistance with event planning, marketing, operations, and engagement with Dr. Pedro Sanchez to include ASXL syndromes in the FaceBase tool
Dr. Bianca Russell, Dr. Wen-Hann Tan, & Dr. Valerie Arboleda for organizing the medical clinic and biobank for ASXL families and for all our amazing speakers including Dr. Hugh Brock, Dr. Feng-Chun Yang, Dr. Stephanie Bielas, & Dr. Loren Pena
Berenice Chauncey & fellow nurses, who helped care for and play with the children during the conference
Michelle Koo, Steve Koo, & Ryan King for capturing the conference on live-stream and video for families around the world to view
Event volunteers - Suzanne Driessen, Jerry Sebastian, Madalina Magureanu, and Dana Graham, who assisted with the registration, set up, and expense management
Linda Hilton, Sheri Bermejo, Michelle Koo, & Scott Morrison for sharing their experiences during the parent panel
Sir Speedy for discounted poster and event printed materials
University of California Los Angeles (UCLA)
Linda Hilton, Conrad Hilton Foundation
AЯRE needs assistance from family, friends, caregivers, and neighbors to make our vision possible. Get involved -- volunteer, share your story, fundraise or join our ASXL registry -- and contact us anytime at firstname.lastname@example.org. We look forward to hearing from you!
Recordings of the speakers and their presentations will be shared in an ARRE series this fall as well as our plans for the 2019 ASXL Conference. Stay tuned!