Only a few days to go

We are less than 3 weeks away from the ASXL Conference in Ann Arbor, Michigan and you can register by 5 July!

The ASXL Conference organized by the ASXL Rare Research Endowment (AЯRE) Foundation – in partnership with Leo’s Lighthouse, Simons Variation in Individuals Project (VIP) and the University of Michigan – will take place in Ann Arbor, Michigan on July 19-21.

Other than last year, the BOS Foundation decided not to partner with the AЯRE Foundation. Instead, they will facilitate their own Meet-up for Bohring-Opitz Families only, which will take place in Philadelphia just a week later.

At the BOS foundation event too, families will have the opportunity to get an update on the ASXL registry by Bianca Russell and Wen-Hann Tan and to give blood samples for the ASXL Registry. Furthermore, the BOS Foundation invited Dr. Samantha Vergano to speak on her latest project with NORD, which we are curious about. Similar to what the AЯRE Foundation organized at the first ASXL Conference in Los Angeles, here too, there will be an opportunity to take 3D pictures facilitated by Facebase.

The ASXL Conference brings professionals and families with an individual having either Bohring-Opitz, Shashi-Pena or Bainbridge-Ropers Syndrome together. It is an extraordinary opportunity for families and medical healthcare providers to meet each other in a casual fun way and to learn from each other.

This years conference will be bigger and better than all related events of the past:

– More than two dozen speakers and presenters!

– Livestream presentations!

– Workshops and presentations designed for families with topics like special needs trust, CBD treatment, respiratory tract issues and lots more

– Latest knowledge from the ASXL registry, lead by Bianca Russell and Wen-Hann Tan.

– Get your own 3D photograph taken and helpresearchers to further develop the ASXL representation in the Facebase-3D Project sponsored by the National Institute of Health. 

– Possibility to participate in a video about diagnosis, finding a community, and the patient experience created by Simmons VIP.

– Fun activities at Revel & Roll, Picknick at Washtenaw County’s County Farm Park and catered lunch and dinner.

– And last but not least don’t miss the special guests: therapy dogs!


Learning from the first conference the AЯRE Foundation the Friday agendas is now split in two parts: one for professionals, hosted at the University of Michigan (family attendance is optional) and one especially for families, hosted at the Hilton Garden Inn Ann Arbor.

Source: AЯRE
Source: AЯRE

Free lunch will be catered at both the family’s and professional’s event. The ASXL Family Dinner at Revel & Roll (including adaptive Bowling & Arcade) is wheelchair accessible and transportation from the hotel to the dinner will be provided.


The Medical Research & Family Day on Saturday is especially designed for families. It offers different workshops and the opportunity to contribute to the Simons VIP & ASXL Biobank and to ASXL Registry enrollment. We can’t emphasize enough the importance of creating the cell lines necessary for entire ASXL research, including for Bohring-Opitz Syndrome. Same as last year you can have your 3D picture taken by Facebase Project, and meanwhile help the researchers in their goal to provide better diagnosis by isolating the shape variation associated with specific syndromes.

Source: AЯRE


Source: Washtenaw Country’s County Farm Park

Sunday is Fun-day: Meet each other at Washtenaw County’s County Farm Park, exchange on your learnings from Friday and Saturday activities or just have some fun on the farm’s ADA (Americans with Disabilities Act) accessible playground .

If you are unable to attend in person, please be sure to sign up online if you’d like to join the livestream video feed. Please go to for registration information.

Don’t miss this incredible opportunity, not just for yourself but to bring all your fellow families a significant step towards a better life for all ASXL individuals and their families, including Bohring-Opitz Syndrome!

We can’t wait and look forward to see you in Ann Arbor!