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New drug gets FDA approval for the treatment of common genetic disease in young boys

A new drug developed by professors from the School of Pharmacy and Pharmaceutical Sciences at Binghamton University has received Food and Drug Administration (FDA) approval for the treatment of patients with Duchenne muscular dystrophy (DMD), a common genetic disease that mostly affects young boys.

31 Oct 2023

Unsupervised genome-wide variant effect predictor based on pretraining of DNA language models

The Genomic Pre-trained Network (GPN), a multispecies model developed to learn genome-wide variant effects.

31 Oct 2023

Broken String Biosciences’ INDUCE-seq platform demonstrates impact of structural DNA changes on specificity of CRISPR-Cas9 gene editing

Broken String Biosciences today announced that its INDUCE-seq™ DNA break-mapping technology had been used in a peer-reviewed research paper to characterize off-target effects of CRISPR-Cas9 gene editing resulting from changes in DNA topology.

From Broken String Biosciences 31 Oct 2023

New MECP2 gene variant identified and characterized in Rett syndrome

Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive disability.

30 Oct 2023

Human-to-lion COVID transmission confirmed: Singapore study rings alarm bells for endangered species

The study reveals that the SARS-CoV-2 delta variant was transmitted from humans to lions at a Singapore zoo, emphasizing the risk to captive and endangered animals. The researchers call for strict infection control measures and suggest vaccinations for susceptible animals to protect them from anthropogenic viral transmissions.

30 Oct 2023

Philanthropic funding boost for UK Biobank

Former CEO and Chairman of Google Eric Schmidt, and Ken Griffin, founder and CEO of Citadel and founder of Griffin Catalyst, are today (Monday 30 October) being announced as the first members of a new consortium that will shape the future of the best-in-class UK Biobank, starting with £16 million funding matched by government.

30 Oct 2023

New omicron sublineages surge, but Pfizer-BioNTech bivalent booster retains effectiveness

The efficacy of the bivalent Pfizer-BioNTech COVID-19 messenger ribonucleic acid (mRNA) vaccine BNT162b2 BA.4/5.

30 Oct 2023

Research reveals both protective and harmful gut microbiota associated with sleep apnea risk

The causal relationship between gut microbiota, associated metabolites, and obstructive sleep apnea (OSA).

30 Oct 2023

New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Canadian researchers develop a cell-free DNA-based multimodal assay for early cancer detection in patients with Li-Fraumeni Syndrome, a high-cancer-risk condition. The assay outperforms conventional methods, promising more sensitive and less invasive cancer surveillance.

29 Oct 2023

Cuproptosis subtypes and immune infiltration provide insights into prognosis of hepatocellular carcinoma

Announcing a new publication for Acta Materia Medica journal. The role of cuproptosis, a newly discovered form of programmed cell death, remains poorly understood in hepatocellular carcinoma (HCC).

27 Oct 2023

Eppendorf & Science Prize for Neurobiology awarded to Marissa Scavuzzo for glial cell research

Marissa Scavuzzo, a postdoctoral fellow at the Case Western Reserve University School of Medicine, has won the 2023 Eppendorf & Science Prize for Neurobiology for research in how glial cells in the intestine's nervous system operate.

27 Oct 2023

Common chemical label shields proteins from degradation

Researchers from the University of Bergen (UiB) have uncovered that proteins use a common chemical label as a shield to protect them from degradation, which in turn affects motility and aging.

27 Oct 2023

Novel replacement strategy holds promise for the treatment of various genetic disorders

Severe Combined Immunodeficiencies (SCIDs) are a group of debilitating primary immunodeficiency disorders, primarily caused by genetic mutations that disrupt T-cell development. SCID can also affect B-cell and natural killer cell function and counts.

27 Oct 2023

Meet Opentrons at ASHG 2023

Opentrons is a proud exhibitor at ASHG 2023, and we’re excited to be bringing our automation solutions to the conference.

From Opentrons 27 Oct 2023

Is retroelement-based gene editing a safer alternative to CRISPR-Cas approaches?

In a Perspective, Stephen Tang and Samuel Sternberg discuss retroelement-based gene editing as a safer alternative to CRISPR-Cas approaches.

26 Oct 2023

UCD professor wins ERC Synergy grant to unlock the secrets to healthy aging

Do bats hold the secret to health and longevity? A team led by Professor Emma Teeling, Full Professor of Zoology at University College Dublin (UCD), has won a prestigious European Research Council (ERC) Synergy grant of almost €12 million, to explore this fascinating question.

26 Oct 2023

New study challenges long-held belief about how chemotherapy works

A new study from the University of Wisconsin–Madison suggests that chemotherapy may not be reaching its full potential, in part because researchers and doctors have long misunderstood how some of the most common cancer drugs actually ward off tumors.

26 Oct 2023

Somatic mutations in the skin not responsible for the start or spread of psoriasis

Psoriasis - a chronic skin condition - is not caused or spread by spontaneous genetic mutations in the skin, new research suggests.

26 Oct 2023

Fighting invisible foes: How cryptic fungal pathogens threaten human health and food security

The research paper in PLOS Pathogens delves into the challenges of diagnosing and treating cryptic fungal pathogens, which are difficult to distinguish from common fungi but equally dangerous. The study calls for more accurate diagnostic methods and a better understanding of how these fungi interact with the human immune system and microbiome for effective treatment and prevention.

25 Oct 2023

Increased homozygosity leads to negative effects on fertility in human population, study finds

When it comes to the architecture of the human genome, it's only a matter of time before harmful genes - genes that could compromise future generations - arise in a population.

25 Oct 2023

Genome News and Research

New drug gets FDA approval for the treatment of common genetic disease in young boys

Unsupervised genome-wide variant effect predictor based on pretraining of DNA language models

Broken String Biosciences’ INDUCE-seq platform demonstrates impact of structural DNA changes on specificity of CRISPR-Cas9 gene editing

New MECP2 gene variant identified and characterized in Rett syndrome

Human-to-lion COVID transmission confirmed: Singapore study rings alarm bells for endangered species

Philanthropic funding boost for UK Biobank

New omicron sublineages surge, but Pfizer-BioNTech bivalent booster retains effectiveness

Research reveals both protective and harmful gut microbiota associated with sleep apnea risk

New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Cuproptosis subtypes and immune infiltration provide insights into prognosis of hepatocellular carcinoma

Eppendorf & Science Prize for Neurobiology awarded to Marissa Scavuzzo for glial cell research

Common chemical label shields proteins from degradation

Novel replacement strategy holds promise for the treatment of various genetic disorders

Meet Opentrons at ASHG 2023

Is retroelement-based gene editing a safer alternative to CRISPR-Cas approaches?

UCD professor wins ERC Synergy grant to unlock the secrets to healthy aging

New study challenges long-held belief about how chemotherapy works

Somatic mutations in the skin not responsible for the start or spread of psoriasis

Fighting invisible foes: How cryptic fungal pathogens threaten human health and food security

Increased homozygosity leads to negative effects on fertility in human population, study finds

The art of CRISPR: The power and promise of gene editing eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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