Endocrine Abstracts

Rare diseases affect more than 300 million people worldwide, often lead to chronic illness, disability, and premature death. The recent advancements in genetics through Next Generation Sequencing (NGS) have revolutionized research and diagnostics. NGS technologies allowed the identification of novel candidate disease-causing genes, significantly also in-depth modification of our understanding of genetic architecture of various rare endocrine diseases. However, despite these re...