POSTS TAGGED AS inherited diseases

Legacy of 100,000 Genomes

Genomics
Ten years ago, the British National Health Service launched the “100,000 Genomes Project,” which now has expanded to a 5 [MORE]

Old Fashioned Newborn Screening

Neonatal blood testing
Except for the number of disorders now screened in neonate testing (61), this piece could have been written [MORE]

Sequencing Newborn Genomes in 48 hrs

IlluminaHiSeq2500
Here’s the seeming dilemma: advanced sequencing technology (in this piece, an Illumina HiSeq 2500 machine) identified a child’s [MORE]

New Diagnostic for Metabolic Disease in Neonates

Tyrosinemia Type 1, like some other inherited amino acidurias, is a rare disease in most populations, but is treatable [MORE]