Past and present diagnostic approaches of genetic syndromes and inherited metabolic disorders

It is estimated that the average time of diagnosis of a genetic disorder ranges from 1 to 5 years, while a high percentage of them remain unrecognized and under/undiagnosed. Improving diagnosis is key to increasing knowledge of the disease's etiology and eventually, leading to treatment options. Inherited metabolic diseases are a good example of how an efficient diagnosis can improve prognosis. In this course, you will receive an overview of the diagnostic process involved in the recognition of a genetic syndrome in children. Moreover, you will also get a general overview of the diagnostic approach and clinical presentations of inherited metabolic disorders. As the list of genetic disorders increases every day, do not miss the chance of getting to know past and present diagnostic approaches for these diseases. This activity is supported by an independent support grant from Illumina, administered by the European Society of Human Genetics (ESHG).