Studies of Hunter and Hurler syndromes on hold ...

In certain groups of men, glucose-6-phosphate dehydrogenase (G6PD) deficiency was linked with an increased likelihood of severe COVID-19, a Veterans Affairs cohort study found. In Black men under 65, ...

BioMarin Pharmaceutical is building up its pipeline with the acquisition of Inozyme Pharma in a $270 million deal centered on an enzyme replacement therapy that could become the first FDA-approved ...

A Chiesi Farmaceutici drug for a rare enzyme deficiency is now approved by the FDA, making it the first U.S. treatment for a disorder that leads to a range of cognitive and muscle problems. The ...

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic ...

​A new study led by researchers at the Johns Hopkins Kimmel Cancer Center, its Bloomberg~Kimmel Institute for Cancer ...

Williams-Beuren syndrome is a rare, congenital disease in which the main morbidity and mortality comes from obstructions, or ...