Amyloid diseases are global epidemics with profound health, social and economic
implications and yet remain without a cure. This dire situation calls for research into the …

There is increasing interest in using dried blood spot (DBS) cards to extend the reach of
global health and disease surveillance programs to hard-to-reach populations …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is
infrequently recognized by primary providers in the setting of physiologic jaundice …

Tuberculosis (TB) elimination and pre-elimination, with thresholds of 1 and 10 incident
cases per million population, respectively, were considered achievable for low TB incidence …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …

Over the past few years, dried blood spot (DBS) technology has become a convenient tool in
both qualitative and quantitative biological analysis. DBS technology consists of a …

Background The use of genome-wide (whole genome or exome) sequencing for population-
based newborn screening presents an opportunity to detect and treat or prevent many more …

Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in
biochemical pathways. Earlier diagnosis and advances in treatment have improved the life …

Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …