This year, the 17q12 community was able to meet for a family conference. Our next big project is absolutely critical to answer all the questions that remain unanswered for 17q12 disorders: a medical registry.
A registry is basically a big, secure database that will hold all of the diagnoses, features, symptoms, etc. that individuals with a chromosome 17q12 disorder have accumulated in one place. If we have all the data in one place, we can more easily convince researchers to design studies that will ultimately help medical professionals take care of these individuals more effectively. As you can imagine, it is not cheap to create and maintain a database that can securely store all of this information. Which means… we need to fundraise, fundraise, fundraise!