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 ...

A patient report submitted to the FDA provides insights on living with ARPKD and unmet medical needs. An “ARPKD Therapeutic Development Roadmap” is forthcoming. Current treatments for autosomal ...

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface. In a study that spans more than a decade, researchers at Baylor College of Medicine have ...

In a study that spans more than a decade, researchers have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, ...

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 ...

Adeno-associated virus (AAV)–mediated gene therapy was one of the focal points of this year's Muscular Dystrophy Association conference. Here, Barry Byrne, MD, PhD, University of Florida, speaks to ...

* Study: high risk of recessive genetic diseases in India * DNA shows virtually all Indians a mix of backgrounds * Findings support history of caste system By Maggie Fox, Health and Science Editor ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

You have your mother’s eyes and your father’s smile, but genetics is much more than just what’s on the surface. In a study that spans more than a decade, researchers at Baylor College of Medicine have ...