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One year has passed since we have shared with you all our first year as a family of 4. In our first chapter we have discussed about our journey from noticing that something might be wrong with our Octavian and the long and intense journey of getting the right diagnosis, finding the right medical center and medical team to provide Octavian the care he needs and concluded with a strong statement of acceptance and a promise to live life the fullest despite SDS.

What is a pseudogene and why does it matter? Important genetic testing considerations for SDS.

In this issue: What are germline genetic variants and how are these different from somatic variants? Welcome to our timely updates on all...