Hearing loss is a condition that affect numerous people around the world, but it can take many forms and have many causes. In ...

A new international study co-led by investigators from Mass General Brigham and the Eye & ENT Hospital of Fudan University ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

A BioMarin Pharmaceutical study comparing genetic models with newborn screening data from 23 million infants found that models underestimated the prevalence of most rare diseases, in some cases by up ...

By comparing genetic data from 23 million newborns to rare disease models, researchers found some models’ estimates were 10 ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...

Lactose intolerance is a common condition that often has a genetic component that can be inherited. Other cases may result from injuries, medications, or chronic medical conditions. Lactose ...