There are a number of genetic disorders in the metabolism of several essential nutrients which molecular basis has been elucidated during the last years. Knowledge of the genetic basis can lead to increased understanding of a disease, better diagnosis and also to new treatment options. The course will focus on

• genetic basis of disease / disorder
• diagnosis
• treatment options

The course will focus on two disorders: phenylketonuria (PKU) and familial hypercholesterolemia (FH). Students will know about the genetic basis of these disorders, learn about newborn screening and will gain an improved understanding of physiologic regulation of nutrient metabolism. They will also learn about diagnosis and treatment of both PKU and FH and the role of dietary treatment, approved drugs and other treatment options.

Knowledge: The students..

• Have advanced knowledge about cause, diagnosis and treatment of PKU and FH.
• Have thorough knowledge about purpose and organization of newborn screening.

Skills : The students..

• Can transfer knowledge for diagnoses of PKU and FH to other genetic disorders in nutrient metabolism.

General competence: The students..

• Can analyze ethical problems associated with the diagnosis of genetic diseases and newborn screening.
• Can discuss genetic disorders using PKU and FH as examples