We understand that this last year has been challenging for so many, and it makes us even more grateful for the support we have received through fundraising and donations. Thanks to the generosity of others the 17q12 community was able to meet for their first family conference as an official group in 2019. Our next big project is absolutely critical to answer all of the questions that remain unanswered for 17q12 duplication and deletion syndromes: a medical registry. We reached our biggest goal yet as a community and raised enough to cover the initial costs. We are now in the final stages of making the 17q12 medical registry a reality. There will be annual maintenance costs we will need to cover, and we hope to work towards making another family conference possible when it is safe for our community to gather.
What exactly is a 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!