The ultimate goal for all of our research is to reach this 10th and final step: the creation of an individualized treatment plan!
With all the information we will have gained over the years, the experience for future families diagnosed with a chromosome 18 condition will be very different from those who came before them.
Because we will know which genes are responsible for which features of each of the conditions, we will be able to offer predictive information to a family based on the deletion or duplication. We can start screening for the specific health problems that the child is at risk for. We can start offering targeted therapies for the developmental challenges that are associated with the condition. For those conditions that have approved drug treatments, we can start treatment.
It will take a lot of work, patience, and dedication on the part of both the researchers and the families. However, it is definitely possible to make chromosome 18 conditions “treatable”, and we will continue to work to make that a reality for the families of the Chromosome 18 Registry!
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