Medically reviewed by Aviv Joshua, MS, RDN Phenylalanine is an essential amino acid (building block of protein) that the body ...

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU ...

A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.

Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns. The PKU-associated enzyme deficiency was determined biochemically in the ...

BioMarin's gene therapy pipeline has had setbacks, including a three-year delay in US approval of Roctavian and stalled development of PKU gene therapy BMN 307 as the Food and Drug Administration ...

Drops of blood, filter paper, bacteria, a bacterial inhibitor, and a baking dish—that’s all it took for microbiologist Robert Guthrie to develop a basic test for phenylketonuria, a genetic metabolic ...

also a professor at PKU’s School of Life Sciences, is pushing frontiers in gene editing and functional genomics. They have made significant developments in large-scale high-throughput screening ...