VCGS

The revolution in the treatment of genetic skeletal disorders: precision therapy in practice

Over the past 15 years, the treatment of genetic skeletal disorders has evolved from purely symptomatic, to the emergence of several precision therapies that promise to change the health outcomes of children affected by these conditions. We have led this knowledge transformation, enabled and fueled by the genomics revolution. This Grand Round will update the progress on the precision treatment of genetic skeletal disorders that sets a template for the better treatment of many other rare genetic conditions.

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3.6 million and counting: Victoria’s Newborn bloodspot screening program – recent innovations and future directions

Victoria’s newborn bloodspot screening (NBS) program commenced in 1966 with screening for phenylketonuria, and from the early 1970’s close to 100% of newborns were being screened. Improvements in analytical and genetic testing technologies saw the successive introduction of screening for congenital hypothyroidism, cystic fibrosis and 22 metabolic conditions. Today, Victoria’s NBS program detects about 80 babies per year with these conditions, preventing life-long debilitating outcomes and even death.

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