The first in this series of Rare Diseases Public seminars is on “Unlocking the
potential of genetics and genomics in Rare Diseases”. This webinar will
provide an overview of genomic technologies used to diagnose and manage
children and adults with rare genetic conditions, followed by a talk
on genomic and precision medicine with examples of how it is applied to Rare
Diseases from the field of Inherited Metabolic Disorders. It will also explore
the challenges and possibilities of using and integrating genomic information
in electronic healthcare records.