Genomics

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Selection, optimization, and validation of genetic tests for 10 common diseases

By analyzing millions of small genetic differences across a person's genome, researchers can calculate a polygenic risk score to estimate someone's lifetime odds of developing a certain disease.

19 Feb 2024

Mapping the genomic landscape of Type 2 diabetes

In the largest genome-wide association study to date on Type 2 diabetes, a team of international researchers, co-led by a University of Massachusetts Amherst genetic epidemiologist, has located 1,289 genetic markers associated with Type 2 diabetes (145 of which are newly identified) and generated risk scores for diabetes complications.

19 Feb 2024

Husker research duo selected as Phase 1 winners in the NIH's Targeted Genome Editor Delivery Challenge

A Husker research duo was named a first-round winner in a National Institutes of Health competition aimed at generating solutions for delivering genome-editing technology to the cells of people with rare and common diseases.

19 Feb 2024

Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

16 Feb 2024

Genetic mechanism shields bacterial communities from viral threats

Like humans struggling to get through the COVID-19 pandemic, bacterial cells need social distancing to thwart viruses.

16 Feb 2024

New standards for evaluating aging biomarkers unveiled

A new paper led by Harvard researchers has zeroed in on biomarkers of aging using omic data from population-based studies.

16 Feb 2024

Study uncovers key genes and cell types that may affect pathogenesis of primary open-angle glaucoma

Although primary open-angle glaucoma (POAG) is the leading cause of blindness in people over the age of 55, there remains no cure for the disease and its biological mechanisms are not well understood.

16 Feb 2024

New DNA recombination toolbox surpasses CRISPR for genome engineering

Belgian researchers from VIB-KU Leuven Center for Microbiology and VIB-UGent Center for Plant Systems Biology have developed a new toolbox of 16 different short DNA sequences that allow triggering controlled and specific recombination events in any genome.

16 Feb 2024

Novel splicing mechanism for short introns discovered

Researchers confirm that the established pre-mRNA splicing mechanism that appears in textbooks cannot work in a subset of human short introns: A novel SAP30BP–RBM17 complex-dependent splicing has been uncovered.

15 Feb 2024

New epigenetic clocks distinguish aging causes and effects

What causes us to age? New "clocks" developed by researchers may help point to the answers. Investigators from Brigham and Women's Hospital, a founding member of the Mass General Brigham healthcare system, unveil a new form of epigenetic clock – a machine learning model designed to predict biological age from DNA structure.

14 Feb 2024

Study reveals genes crucial for protecting male fertility

Discovery of a pair of genes that work in perfect harmony to protect male fertility, could provide new insights into some unexplained cases of the most severe form of infertility, research suggests.

14 Feb 2024

Study uncovers more than one hundred key genes linked to DNA damage

More than one hundred key genes linked to DNA damage have been uncovered through systematic screening of nearly 1,000 genetically modified mouse lines, in a new study published today (14 February) in Nature.

14 Feb 2024

Phosphoproteomic profiling reveals the complex interplay of immune cells in tumors

Researchers from the Icahn School of Medicine at Mount Sinai, in collaboration with the Clinical Proteomic Tumor Analysis Consortium of the National Institutes of Health, The University of Texas MD Anderson Cancer Center, Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine, and others, have unveiled a detailed understanding of immune responses in cancer, marking a significant development in the field.

14 Feb 2024

Breakthrough research unveils effects of ionizing radiation on cellular DNA

Recent release of the waste water from Japan's Fukushima nuclear disaster stirred apprehension regarding the health implications of radiation exposure.

14 Feb 2024

Genes dictate taste: Study finds genetic links to food preferences

Study reveals the significant impact of genetic variations on adult dietary preferences, highlighting the complex interplay between genetics and food choices.

13 Feb 2024

Novel assay enhances pediatric cancer treatment by identifying clinically relevant gene fusions

Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients.

13 Feb 2024

Gene editing gets a boost with new CRISPR-COPIES

CRISPR/Cas systems have undergone tremendous advancement in the past decade. These precise genome editing tools have applications ranging from transgenic crop development to gene therapy and beyond.

12 Feb 2024

Understanding how natural genetic variation contributes to adaptive responses to low oxygen

Humans are still evolving, and Tatum Simonson, PhD, founder and co-director of the Center for Physiological Genomics of Low Oxygen at University of California School of Medicine, plans to use evolution to improve healthcare for all.

12 Feb 2024

Breakthrough technique unveils secrets of "backtracking" in gene regulation

A technique can determine for the first time how frequently, and exactly where, a molecular event called "backtracking" occurs throughout the genetic material (genome) of any species, a new study shows.

9 Feb 2024

DDT exposure found to alter sperm epigenome in humans

In a study that signals potential reproductive and health complications in humans, now and for future generations, researchers from McGill University, the University of Pretoria, Université Laval, Aarhus University, and the University of Copenhagen, have concluded that fathers exposed to environmental toxins, notably DDT, may produce sperm with health consequences for their children.

9 Feb 2024