Genetics News and Research

Latest Genetics News and Research

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

13 Jun 2024

AI-driven alerts improve patient care escalation and survival rates in hospitals

Deploying and evaluating a machine learning intervention to improve clinical care and patient outcomes is a key step in moving clinical deterioration models from byte to bedside, according to a June 13 editorial in Critical Care Medicine that comments on a Mount Sinai study published in the same issue.

13 Jun 2024

Access to urban vegetation can mitigate asthma risk for children, study finds

How urban vegetation and exposure to pollen are linked to the incidence of childhood asthma.

13 Jun 2024

Long-read RNA sequencing reveals novel insights into alternative splicing and disease genetics

Tokyo Medical and Dental University (TMDU) researchers harness long-read RNA sequencing to decode genetic intricacies and disease links.

12 Jun 2024

HiDEF-seq technique reveals the origins of DNA mutations in single strands

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including cancer.

12 Jun 2024

Study identifies genetic predictors of X chromosome loss in aging women

Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX.

12 Jun 2024

Mount Sinai researchers use AI to identify 17 key genes in heart disease

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide.

11 Jun 2024

Study identifies functional sex differences in specialized pain-producing nerve cells

Research suggests that males and females differ in their experience of pain, but up until now, no one knew why.

10 Jun 2024

Genome sequencing identifies genetic disorders missed by exome analysis

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

10 Jun 2024

Study uncovers gut microbes' role in childhood obesity

Researchers used Mendelian randomization to identify causal links between gut microbes and childhood obesity, revealing key microbial players that influence pediatric adiposity.

10 Jun 2024

Do taste genes influence how much alcohol we drink and our body fat?

Study examines how polymorphisms in bitter taste receptor genes relate to alcohol consumption and body fat percentage, revealing significant associations with TAS2R13 but not TAS2R38.

9 Jun 2024

Inherited gene sequences predict breast cancer type and severity, study reveals

A Stanford Medicine study of thousands of breast cancers has found that the gene sequences we inherit at conception are powerful predictors of the breast cancer type we might develop decades later and how deadly it might be.

7 Jun 2024

Study sheds light on the rate and nature of mutations in mitochondrial DNA

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

7 Jun 2024

MGI Tech shares new data on core DNEBSEQ technology and showcases latest sequencing innovations at ESHG 2024

MGI (MGI Tech Co., Ltd. or its subsidiaries, together referred to MGI), a company committed to building core tools and technologies that drive innovation in life science, today showcased its cutting-edge technologies via a Corporate Satellite Meeting at this year’s European Society of Human Genetics (ESHG) conference in Berlin, Germany.

From MGI 7 Jun 2024

MGI Tech’s DNBSEQ-E25 and G99 platforms set record for sequencing applications at high altitude

MGI Tech Co., Ltd. (“MGI”), a company committed to building core tools and technologies that drive innovation in life science, recently set a new record for sequencing applications by successfully running sample testing on its cutting-edge DNBSEQ-E25 and DNBSEQ-G99 platforms on Mount Everest.

From MGI 7 Jun 2024

Genetic discovery reveals key to inflammatory diseases

Researchers discovered that a specific haplotype on chromosome 21 is linked to five inflammatory diseases, offering insights into potential new treatments.

7 Jun 2024

Study examines potential dangers of consuming energy drinks for patients with genetic heart diseases

A new study in Heart Rhythm, the official journal of the Heart Rhythm Society, the Cardiac Electrophysiology Society, and the Pediatric & Congenital Electrophysiology Society, published by Elsevier, examined the potential dangers of consuming energy drinks for patients with genetic heart diseases.

6 Jun 2024

AI-powered liquid biopsy shows promise in early detection of lung cancer

Using artificial intelligence technology to identify patterns of DNA fragments associated with lung cancer, researchers from the Johns Hopkins Kimmel Cancer Center and other institutions have developed and validated a liquid biopsy that may help identify lung cancer earlier.

6 Jun 2024

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Researchers at the University of Kentucky Sanders-Brown Center on Aging are working to develop a pre-symptomatic disease diagnostic tool for Alzheimer's disease.

6 Jun 2024

Proteomic fitness scores revolutionize disease prediction and personalized exercise plans

Research establishes a proteomic CRF score, linking it to improved prediction of mortality and multisystem disease risks, showing dynamic response to exercise training.

5 Jun 2024

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Genetics News and Research

Latest Genetics News and Research

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

AI-driven alerts improve patient care escalation and survival rates in hospitals

Access to urban vegetation can mitigate asthma risk for children, study finds

Long-read RNA sequencing reveals novel insights into alternative splicing and disease genetics

HiDEF-seq technique reveals the origins of DNA mutations in single strands

Study identifies genetic predictors of X chromosome loss in aging women

Mount Sinai researchers use AI to identify 17 key genes in heart disease

Study identifies functional sex differences in specialized pain-producing nerve cells

Genome sequencing identifies genetic disorders missed by exome analysis

Study uncovers gut microbes' role in childhood obesity

Do taste genes influence how much alcohol we drink and our body fat?

Inherited gene sequences predict breast cancer type and severity, study reveals

Study sheds light on the rate and nature of mutations in mitochondrial DNA

MGI Tech shares new data on core DNEBSEQ technology and showcases latest sequencing innovations at ESHG 2024

MGI Tech’s DNBSEQ-E25 and G99 platforms set record for sequencing applications at high altitude

Genetic discovery reveals key to inflammatory diseases

Study examines potential dangers of consuming energy drinks for patients with genetic heart diseases

AI-powered liquid biopsy shows promise in early detection of lung cancer

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Proteomic fitness scores revolutionize disease prediction and personalized exercise plans

Sequencing & Genomics: Elevating Science and Healthcare eBook

Real-time Raman monitoring for pharmaceutical hot melt extrusion

Synthetic Psychedelics: A Growing Public Health Concern

How the Vutara VXL simplifies single-molecule imaging