Genomic News and Research

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New effort to generate high quality reference genomes for 1,000 known species of euglenoids

The Euglena International Network (EIN) (https://euglenanetwork.org/), founded in 2020, is a global consortium of hundreds of scientists around the world with the collective goal of supporting euglenoid science through collaborative and integrative omics between academics and industry.

23 Nov 2022

The influence of genes and small molecules on personal disease risk

Each individual has a unique chemical fingerprint. Small molecules in the blood, like fats or sugars, have a significant impact on how the human body responds to stress, which diseases people are predisposed to, and how serious an illness will be.

23 Nov 2022

Revealing the functional significance of DDX41 in great detail

The DDX41 gene encodes the nuclear enzyme DEAD-box-type RNA helicase. Hematopoietic malignancies are caused by DDX41 mutations. However, the mechanism behind the development of this malignancy remains unknown.

21 Nov 2022

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