Genomics

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PacBio to commence first customer shipments of Revio long-read sequencing systems

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced its first customer shipments of Revio long-read sequencing systems will commence on March 8, 2023.

9 Mar 2023

New class of oral drugs can inhibit a diverse range of pathogenic SARS-CoV-2 strains

The constant evolution of new COVID-19 variants makes it critical for clinicians to have multiple therapies in their arsenal for treating drug-resistant infections.

9 Mar 2023

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Study unveils a key factor involved in the DNA damage response and repair

A research team, affiliated with UNIST has unveiled a key factor involved in the DNA damage response (DDR), homologous recombination (HR) and DNA interstrand crosslink (ICL) repair.

8 Mar 2023

Mutant mice models created for studying bipolar disorder

Bipolar disorder (BD) is a debilitating condition characterized by alternating states of depression (known as depressive episodes) and abnormal excitement or irritability (known as manic episodes).

7 Mar 2023

Common scientific method to analyze DNA in early human embryos fails to accurately reflect gene edits

A commonly used scientific method to analyze a tiny amount of DNA in early human embryos fails to accurately reflect gene edits, according to new research led by scientists at Oregon Health & Science University.

7 Mar 2023

Study highlights the need to offer genetic testing as standard of care for people with cerebral palsy

A Geisinger meta-analysis of recent research on the genetics of cerebral palsy (CP) provides evidence that genetic testing should be offered as the standard of care for people with the disorder, similar to current recommendations for individuals with other neurodevelopmental disorders (NDD).

6 Mar 2023

Study identifies genetic variants influencing human fertility

Fertility is influenced by mechanisms that influence both reproductive biology and human behavior, according to the largest study to date identifying genetic determinants of the number of children an individual may have.

6 Mar 2023

Researchers discover a new mutation that leads to arrhythmogenic cardiomyopathy

Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a new mutation that leads to the cardiac disease arrhythmogenic cardiomyopathy (ACM).

5 Mar 2023

New model shows how the 'good genes' can cause a population to collapse

Males of a species evolving traits for sexual conflict can cause problems for females, and, ultimately, the whole population.

3 Mar 2023

Gene mutation capable of regulating pain discovered

Pain afflicts at least 1.5 billion people worldwide, and despite the availability of various painkilling drugs, not all forms of pain are treatable.

3 Mar 2023

Genome editing could help save rice crops threatened by climate change

A review of gene editing techniques suggests that the CRISPR/Cas (clustered regularly interspaced short palindromic repeats/Cas) method could be a possible 'savior' for rice crops threatened by climate change and high food demand.

3 Mar 2023

New delivery system based on lipid nanoparticles could increase the efficiency of gene therapy

Lipid nanoparticles have been used to encapsulate CRISPR-Cas9 and deliver it to cells in mice, where it was highly effective at knocking down expression of a target protein.

2 Mar 2023

Neutral or awkward behavior of mothers with infants linked to an epigenetic change in children

Adding evidence to the importance of early development, a new study links neutral maternal behavior toward infants with an epigenetic change in children related to stress response.

2 Mar 2023

Study results provide strong evidence for association of genetic markers to long COVID mappable to fatigue

Researchers analyzed polygenic risk scores in whole genome sequences obtained from blood samples of long COVID patients to determine genomic predictors of long COVID.

2 Mar 2023

Gene variant found in individuals of African ancestry dramatically boosts Alzheimer's risk

Stanford Medicine scientists and their colleagues have discovered that a gene variant found almost exclusively in the genomes of individuals of African ancestry dramatically boosts Alzheimer's risk. About 4% of African Americans carry this variant.

1 Mar 2023

Key 'traffic light' mechanism controlling genetic activity within cells revealed

A major new study in the journal Nature reveals a 'traffic light' mechanism controlling genetic activity within cells – a system which could potentially be targeted by cancer drugs already in development.

1 Mar 2023

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year.

28 Feb 2023

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

28 Feb 2023

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

A team of investigators from Massachusetts General Hospital, a founding member of Mass General Brigham and Mass General for Children has identified-; for the first time-; the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome, which causes profound cerebrovascular, gastrointestinal and urologic impairment.

28 Feb 2023

Genomics

PacBio to commence first customer shipments of Revio long-read sequencing systems

New class of oral drugs can inhibit a diverse range of pathogenic SARS-CoV-2 strains

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Study unveils a key factor involved in the DNA damage response and repair

Mutant mice models created for studying bipolar disorder

Common scientific method to analyze DNA in early human embryos fails to accurately reflect gene edits

Study highlights the need to offer genetic testing as standard of care for people with cerebral palsy

Study identifies genetic variants influencing human fertility

Researchers discover a new mutation that leads to arrhythmogenic cardiomyopathy

New model shows how the 'good genes' can cause a population to collapse

Gene mutation capable of regulating pain discovered

Genome editing could help save rice crops threatened by climate change

New delivery system based on lipid nanoparticles could increase the efficiency of gene therapy

Neutral or awkward behavior of mothers with infants linked to an epigenetic change in children

Study results provide strong evidence for association of genetic markers to long COVID mappable to fatigue

Gene variant found in individuals of African ancestry dramatically boosts Alzheimer's risk

Key 'traffic light' mechanism controlling genetic activity within cells revealed

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

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