Bohring-Opitz Syndrome Foundation, Inc.

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Our exciting discovery!

There's exciting new research for the BOS community!.jpg

The BOS MAB committee made an exciting discovery! While searching for information on Twitter, Taylor Gurganus found a post about Bohring-Opitz research in Miami. Carrie Hunsucker called the University of Miami’s Human Genetics department and was connected with Dr. Juan Young. Dr. Young is leading a research project studying the ASXL1 mutation in mice. He was very willing to discuss his project with Carrie.

Dr. Russell, our Medical Advisor, helped us understand that the researchers in Miami are making mice that have an ASXL1 mutation (the same mutation that causes BOS). These “mouse models” will help researchers study how the mutation affects the body and look for potential ways to “fix” it. Dr. Russell stated, “This is how treatments for most diseases are found. They are currently a very long way from finding a cure as this mouse model is the very first step in a long process but you have to start somewhere! I'm excited to hear someone is working on this...research like this requires a lot of grants and money so this might be a place the foundation can offer support to further this work.”

The Foundation is very excited about this research! In the coming months, we will begin the process of finding and funding grants for medical research. Please let us know if you have any questions for the Medical Advisory Board Committee.

Interested in getting involved? Join the BOS Foundation now, and select the Medical Advisory Committee as your choice for volunteering!