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New tool simplifies genomic research and boosts medical breakthroughs

A University of Virginia School of Medicine scientist and collaborators have developed a much-needed new tool to increase the efficiency of genomic research and accelerate the development of new ways to improve human health.

16 Apr 2025

FOXR2 activation found in multiple pediatric brain tumor types

Physicians classify brain tumors and determine treatment options, in part, by the genes they express. According to World Health Organization standards, the abnormal activation of oncogene FOXR2 only occurs in central nervous system (CNS) neuroblastoma, but that may not be true.

16 Apr 2025

Early detection of Alzheimer's disease through blood biomarker

Individuals with a genetic predisposition to Alzheimer's disease show altered blood levels indicating damaged neuronal contacts as early as 11 years before the expected onset of dementia symptoms.

16 Apr 2025

New enzyme family enables targeted cuts in single-stranded DNA

An INRS team discovers a new family of enzymes capable of inducing targeted cuts in single-stranded DNA .

16 Apr 2025

New discoveries explain how DNA repair signals are controlled

Researchers from the University of Birmingham have uncovered answers that provide the detail to explain two specific DNA repair processes that have long been in question.

16 Apr 2025

Multiple myeloma care improved using innovative optical genome mapping

Researchers have demonstrated the potential of the innovative optical genome mapping (OGM) technique for the diagnosis, prognosis, and therapeutic management of multiple myeloma.

15 Apr 2025

Researchers analyze the mutational landscape of TMB-high colorectal cancer tumors

Colorectal cancer (CRC), a type of cancer that affects the large intestine and rectum, is one of the leading causes of cancer-related deaths worldwide.

15 Apr 2025

Inherited genetic variants play crucial role in cancer development and behavior

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) and colleagues around the world, has discovered that the genes we are born with-known as germline genetic variants-play a powerful, underappreciated role in how cancer develops and behaves.

15 Apr 2025

MGI tech celebrates 10 years of DNBSEQ™ technology: driving genomics forward with speed, scale, and accessibility

MGI's DNBSEQ™ technology redefines genomics, delivering exceptional sequencing performance and enabling multi-omics applications for diverse scientific fields.

From MGI 15 Apr 2025

Genetic diversity of malaria parasite challenges one size fits all strategies

Despite decades of efforts focused on mosquito eradication, drug therapies, and vaccines, malaria remains hard to beat, especially in Africa.

11 Apr 2025

New assay detects epigenetic changes caused by carcinogenic chemicals

Chemicals used as food preservatives, flavoring agents, dyes, pesticides, cosmetics, cleaners, and other industrial materials are being increasingly recognized as a health hazard.

10 Apr 2025

Researchers uncover a new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

10 Apr 2025

New study sharpens focus on genetic causes of asthma

Genome wide association studies (GWAS) have identified hundreds of genome regions containing thousands of genetic variants associated with asthma, but it's still not clear which variants have an actual causal link to the disease.

10 Apr 2025

Source Bioscience acquires Cambridge Clinical Laboratories

Source BioScience UK Ltd, an industry-leading provider of genomic services and histopathology diagnostics, today announced it had completed the acquisition of Cambridge Clinical Laboratories (CCL), a leading Cambridge-based provider of clinical, personalized healthcare testing services.

10 Apr 2025

AI-driven personalized nutrition shows promise in improving gut health

Researchers examine the impact of AI-based personalized nutrition programs on the gut microbiome of healthy individuals.

10 Apr 2025

Genetic fusion drives unexpectedly fast growth in chronic myeloid leukemia

A new study has unveiled when chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

9 Apr 2025

Genetic breakthrough in psychiatry using long-read genomic sequencing

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

9 Apr 2025