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Metabolic Disease

News on research and diagnostics for metabolic disorders and metabolic diseases.

Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.

Exome sequencing had lower sensitivity and specificity for finding inborn errors of metabolism than conventional screening, but appeared to refine mass spec-based results.

Analyzing genetic and metabolic data for nearly 16,100 individuals with phenylketonuria, investigators identified disease severity and genotyping gradients, along with predictive clues.

A new analysis highlighted a decrease in the abundance of butyrate-producing bacteria among individuals with prediabetes or type 2 diabetes.

A Regeneron-led team identified four variants that affect LDL cholesterol levels and are much more prevalent among Southwestern American Indians.

Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.

Oct
26
Sponsored by
Sophia Genetics

This webinar will discuss Genotypos Science Labs’ experience with a whole-exome sequencing solution supporting the detection of copy number variants (CNVs) for the management of complex cases.