Genomic News and Research

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New guidelines for genomic consent benefit patients and researchers

How can Canada maximize the benefits of human genomic sequencing to deepen knowledge of disease? For researchers and decision-makers in this expanding field, new guidance published in CMAJ (Canadian Medical Association Journal) establishes the essential components for obtaining patient consent.

16 Nov 2022

Revealing cancer development in people carrying inherited BRCA1 mutations

Researchers from Weill Cornell Medicine have discovered that people who inherit a mutant copy of the BRCA1 gene may develop mutations and cancer due to error-prone DNA replication and repair.

16 Nov 2022

New study figures out which patients will react to immunotherapy

According to a new study, patients with head and neck cancer who have more chromosome 9 genetic material in their cancer cells survive three times longer after accepting immunotherapy than patients who have less of it.

From New York University (NYU) 15 Nov 2022

Statistical methodology uncovers changes in genomic data

A novel statistical technique makes it easier to find biologically significant changes in genomic data that span multiple conditions, like cell types or tissues.

From Penn State University 15 Nov 2022

New insights into the genetics underlying autism spectrum

At The Hospital for Sick Children (SickKids), scientists have untangled new genes and genetic changes linked to autism spectrum disorder (ASD) in the biggest autism whole genome sequencing analysis so far.

14 Nov 2022

Multidisciplinary analysis of WGS improves diagnostic rates

The NHS Genomic Medicine Service, launched by the Department of Health in the United Kingdom in 2018, enables patients with unusual conditions to have their complete genetic code evaluated in the hopes of gaining a critical diagnosis.

From University College London 8 Nov 2022

Role of p53-mediated metabolism in preventing genomic instability

The gene that codes for the protein p53 is most likely the most significant factor in defending human cells against DNA-damaging agents that cause cancer. The protein permits cells to repair DNA damage and so prevents the formation of malignancies, earning it the nickname “guardian of the genome.”

4 Nov 2022

RNA-edited regions in brain shed light on neurodevelopment and disease

Numerous sites in the brain where RNA is altered over the course of a person’s lifespan through a process known as adenosine-to-inosine (A-to-I) editing have been identified by Mount Sinai researchers.

3 Nov 2022

Novel technique expedites research into the genetics of aging

A novel technique for identifying the genes that are important for aging has been discovered by scientists at North Carolina State University.

3 Nov 2022

Salivary miRNAs may be a promising biomarker for persistent post-concussive symptoms in children

Predicting clinical recovery of children with concussion is challenging. While concussion symptoms typically resolve within one to three weeks, up to one-third of children develop persistent post-concussive symptoms (PPCS), including headache, nausea, dizziness, blurred vision and sensitivity to light and/or sound.

26 Oct 2022

Saving ocean habitats with newer genomic technologies

In an essay published on October 17th, 2022 in the open-access journal PLOS Biology, Madeleine van Oppen of the Australian Institute of Marine Science and the University of Melbourne and Melinda Coleman of the New South Wales Department of Primary Industries argue that genetic and genomic technologies have tremendous potential for protecting marine life but are currently underutilized.

20 Oct 2022

Large 'omics' dataset reveals a year in the biological life of Arctic Ocean

A major new project will help benchmark biodiversity change in the Arctic Ocean and guide conservation efforts by identifying unique species and assessing their extinction risk.

18 Oct 2022

High-quality chromosome-level reference genome for A. gigantea

According to the International Union for Conservation of Nature’s Red List, Aldabra giant tortoises are in danger of extinction, which means the species stands a high risk of extinction in the wild.

14 Oct 2022

A more efficient way to deliver gene therapies to the CNS

For gene therapy, the blood-brain barrier (BBB) poses a formidable obstacle. The BBB, which is made up of cells that are closely packed together, prevents poisons and pathogens from accessing brain tissue while also blocking potential treatments for diseases that impact the CNS.

12 Oct 2022

New technique identifies tumor-associated microbes

Researchers from Rutgers Cancer Institute of New Jersey and RWJBarnabas Health investigated the microbiome of pancreatic tumors and discovered certain microbes linked to inflammation and poor survival.

From Rutgers University 12 Oct 2022

Genomic research helps in tackling the fatal complications of fungal infections

An important genetic discovery made by a research team led by a University of Massachusetts Amherst scientist sheds new light on the application of the drug caspofungin to treat the deadly fungal infection Aspergillus fumigatus, which claims the lives of about 100,000 severely immunocompromised individuals every year.

7 Oct 2022

Single-cell functional tool screens active ARB in native soils

Soil antimicrobial resistance (AMR) poses significant health risks due to the possibility of transfer to humans via direct contact and the food chain.

3 Oct 2022

Newly isolated Bacteroides likely to be present in mammals beyond mice

In the DFG-funded Collaborative Research Center (CRC) 1182 “Origin and Function of Metaorganisms,” scientists from Kiel University and the Max Planck Institute for Evolutionary Biology in Plön (MPI-EB) are investigating the evolutionary history and function of Bacteroides.

From The Max Planck Institute 30 Sep 2022

“Junk” DNA could provide access to innovative treatments for neurological conditions

The breakthrough study from the University of Sheffield’s Neuroscience Institute and Healthy Lifespan Institute offers critical new insights into the so-called junk DNA, or DNA that was previously believed to be unimportant to the coding of the genome, and how it affects neurological disorders like Motor Neuron Disease (MND) and Alzheimer’s.

29 Sep 2022

Discovery of genes lending tolerance to sugarcane from pests, cold, and drought

Saccharum spontaneum, a species of wild sugarcane with exceptional resistance to biotic stresses like nematodes, fungi, bacteria, and other pests and diseases, as well as abiotic stresses like cold, drought, salinity, and nutritionally deficient soil, was the subject of a study at the State University of Campinas (UNICAMP) in Brazil.

28 Sep 2022