In Nigeria, most deafness is acquired, but hereditary cases are poorly understood. ENT specialists explain how genes cause ...

Columnist Jennifer Lynne interviews Ina Fowler, 68, about her diagnosis with hemophilia C and how faith complicates her treatment.

Researchers have discovered the first genetic mutation associated with hypertrophic cardiomyopathy (HCM) and sudden death in golden retrievers. The work could lead to increased early detection and ...

Background Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally ...

Introduction: Misophonia is a recently described, poorly understood and neglected condition. It is characterized by strong negative reactions of hatred, anger or fear when subjects have to face some ...

The Internet Archive keeps the record straight by preserving government websites, news publications, historical documents, and more. If you find our work useful, please chip in The Internet Archive ...

Geleophysic dysplasia is a rare genetic condition that causes a smaller physical stature, as well as challenges with joints and internal organs, among others. Geleophysic dysplasia (GD) is inherited ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Learn all about Gaucher Disease, its causes, symptoms, diagnosis, and treatment options. Understand this rare genetic disorder for early detection and care ...