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Genetic clue to pericarditis inflammation points to promising new treatments

Sequence variants that protect against pericarditis have been discovered at a genomic locus encoding interleukin-1 immune cytokines.

27 Dec 2023

New drug screening system helps uncover promising target for pancreatic cancer treatments

A drug screening system that models cancers using lab-grown tissues called organoids has helped uncover a promising target for future pancreatic cancer treatments, according to a new study from researchers at Weill Cornell Medicine.

26 Dec 2023

New tool organizes single-cell data for health discoveries

A new methodology that allows for the categorization and organisation of single-cell data has been launched. It can be used to create a harmonized dataset for the study of human health and disease.

21 Dec 2023

UW-Madison technology unveils autism gene's impact on early brain structure

Technology developed at the University of Wisconsin–Madison to grow "rosettes" of brain and spinal tissue gives scientists new ways to study the growing human brain, including a recent study of how genetic mutations linked to autism affect early stages of human brain development.

20 Dec 2023

New statistical technique improves disease prediction for people of African descent

A team of scientists from Icahn School of Medicine at Mount Sinai has developed a groundbreaking statistical technique, "BridgePRS," to enhance disease prediction in people of non-European ancestry, particularly those of African descent.

20 Dec 2023

Study reveals cytoglobin's pivotal role in cilia movement and organ positioning during development

Study reveals that cytoglobin (cygb2) plays a crucial role in regulating cilia motility and organ laterality during development, highlighting its importance in NO signaling and cilia function.

19 Dec 2023

From Neanderthals to now: Tracing the evolution of human sleep cycles

Researchers examined the differences in circadian biology between the ancestors of modern humans and the archaic hominins such as Denisovans and Neanderthals and the contribution of archaic introgression in human chronotypes by using genomes to trace chronotype evolution from archaic hominins to modern-day humans.

19 Dec 2023

Decoding the genome of world's biggest bacteria

Not all bacteria are created equal. Most are single-celled and tiny, a few ten-thousandths of a centimeter long. But bacteria of the Epulopiscium family are large enough to be seen with the naked eye and 1 million times the volume of their better-known cousins, E. coli.

18 Dec 2023

Scientists identify genetic and epigenetic culprits behind bilateral Wilms tumor

Children with bilateral Wilms tumor have a tumor in each of their kidneys -; a condition that strongly suggests an underlying genetic or epigenetic predisposition driving the disease.

18 Dec 2023

Scientists crack the code for targeting cancer's 'death star' protein

Researchers at the Centre for Genomic Regulation in Barcelona, Spain, and the Wellcome Sanger Institute near Cambridge, UK, have comprehensively identified the allosteric control sites found in the protein KRAS.

18 Dec 2023

Chia genome sequenced, revealing potential health benefits

In a recent study published in Frontiers in Plant Science, researchers presented the assembly of the chia reference genome.

18 Dec 2023

Study reveals unexpected role of immune cells in early human lung development

Immune cells play an active and intimate role in directing the growth of human lung tissue during development, researchers find, revolutionizing our understanding of early lung development and the role of immune cells outside of immunity.

15 Dec 2023

New study reveals how travel patterns shaped COVID-19 transmission

Elucidating human contact networks could help predict and prevent the transmission of SARS-CoV-2 and future pandemic threats.

15 Dec 2023

Study uncovers vast genomic diversity in Aboriginal Australian communities

Study on Aboriginal Australian communities using whole-genome sequencing reveals a high level of unique genetic diversity, including novel alleles and structural variants, crucial for understanding human genomic evolution and medical genetics.

14 Dec 2023

Study uncovers unique genetic diversity in Australian Indigenous populations

Scientists at ANU have revealed significant genetic diversity among Australian Indigenous communities, uncovering unique genetic variations that could impact personalized medical treatments for chronic diseases.

14 Dec 2023

Novel machine learning tool predicts gain- and loss-of-function variants across the genome

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.

14 Dec 2023

Association of genetically proxied PDE5 inhibition with measures of fertility, sexual behavior, and wellbeing

Researchers performed a two-sample Mendelian randomization analysis to investigate the associations between genetically proxied suppression of PDE5, a recognized pharmacological target for erectile dysfunction, fertility, subjective wellness, and sexual behavior.

14 Dec 2023

Scientists unlock secret to repairing malnourished children's guts

A clinical trial reported in 2021 and conducted by a team of researchers from Washington University School of Medicine in St. Louis and the International Centre for Diarrhoeal Disease Research in Dhaka, Bangladesh, showed that a newly designed therapeutic food aimed at repairing malnourished children's underdeveloped gut microbiomes was superior to a widely used standard therapeutic food.

13 Dec 2023

Utilizing firefly liquid handling for laboratory developed tests

In this interview, News Medical speaks with SPT Labtech about utilizing the firefly for Laboratory Developed Tests (LDT), specifically for the field of NGS library prep-based LDT.

From SPT Labtech 13 Dec 2023

New SARS-CoV-2 variant JN.1 shows increased transmissibility and immune resistance

A Japanese study published in BioRxiv explores the virological characteristics of the SARS-CoV-2 JN.1 variant, finding it has a higher effective reproductive number and stronger resistance to immunity from other variants, potentially due to the L455S spike protein mutation.

11 Dec 2023