article thumbnail

GUARDIAN Study Reveals How Genomic Sequencing Could Bridge Gaps in Newborn Screening

XTalks

Genomic sequencing is a window into our genetic makeup. The GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study, recently published in the Journal of the American Medical Association (JAMA) , highlights how adding genome sequencing to newborn screening could reshape early detection for rare genetic conditions.

article thumbnail

Genomics to roll out predictive clinical test across UK

Pharmaceutical Technology

Abigail Beaney June 18, 2025 Share Copy Link Share on X Share on Linkedin Share on Facebook Genomics CEO Professor Sir Peter Donnelly with Justin Ash, CEO of Spire Healthcare. Image credit: Genomics. Oxford-based company Genomics is launching its Health Insights test across the UK, which will be used to predict and prevent diseases.

Genomics 130
Insiders

Sign Up for our Newsletter

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

article thumbnail

Genomic Study Uncovers Diverse Carbohydrate Use in Bifidobacteria

Scienmag

This research leverages cutting-edge integrative genomic reconstruction methodologies to dissect the heterogeneous strategies these prominent gut microbes employ to utilize dietary and host-derived carbohydrates, shedding new light on the complex symbiotic relationships that underpin human health.

article thumbnail

EHMT2’s Role in Prader-Willi Genomic Imprinting

Scienmag

In a groundbreaking study published in Nature Communications , researchers led by Wang, Cheng, Lim, and colleagues have uncovered critical insights into the role of EHMT2 in the regulation of genomic imprinting associated with Prader-Willi syndrome (PWS). Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.

article thumbnail

Controversial project aims to make artificial human genomes

pharmaphorum

A landmark project funded by Wellcome aims to develop the tools needed to synthesise human genomes – and simultaneously probe the social implications.

article thumbnail

Stanford Researchers Identify Missing Yew Tree Enzymes Crucial for Producing Common Cancer Drug

Scienmag

However, the yew’s vast and convoluted genome, which dwarfs typical bacterial chromosomes with around 50,000 genes, obscures the precise genetic components fueling Taxol biosynthesis. Future applications may unlock novel pathways for synthesizing valuable compounds ranging from nutraceuticals to biofuels.

article thumbnail

Fine-Mapping Sharpens Bipolar Disorder Gene Targets

Scienmag

In a landmark advance that promises to reshape our understanding of bipolar disorder, researchers have employed cutting-edge genomic mapping techniques to pinpoint the genetic underpinnings of this complex psychiatric condition with remarkable precision. The ethical and societal dimensions of this research are equally profound.

Gene 59