scientific Sessions

Genetics is the study of heredity and variation in inherited characteristics from parent to offspring, and can help us to understand the mechanisms of how specific features or disease predispositions are passed down through generations. In fact, genetic testing and counselling has become an important addition to the diagnostic and management plan for many endocrine disorders and can help identify the underlying genetic basis of the disease. Endocrinology, on the other hand, is the study of the complex biological system of hormone-producing glands that are vital for almost every biological function, including metabolism, growth, and mood regulation. Together, these fields can help us to uncover how genetic variations might disrupt the endocrine system, leading to a multitude of disorders and varied impact on a person’s health.

By combining genetics and endocrinology, we have enabled the development of so-called ‘personalised medicine,’ particularly in diagnosis and treatment of genetic endocrine diseases. Genetic insights that have revolutionised our understanding of the genetic factors that contribute to the first step in diabetes – processing of the insulin gene to messenger RNA – have helped deepen the understanding of diabetes, in its many different forms, and can guide the personalisation of treatment. Similarly, genetic analyses have shown that timely assessment of persons with an increased risk of thyroid diseases or malfunction of the adrenal gland facilitate prevention or personalised therapy that is tailored to the individual genotype. The genetic pathophysiology of diseases will continue to grow rapidly, hopefully to the point where more and better treatments can be personalised for individual patients. It will help optimise outcomes and quality of life.