Genomics

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Exploring the impact of R-loops on genome integrity and disease

This new review article highlights the pivotal and paradoxical role of R-loops in maintaining genomic stability while simultaneously posing risks to it.

19 Apr 2025

Chromosomal rearrangements drive color evolution in stick insects

Understanding the material basis of adaptive evolution has been a central goal in biology dating back to at least the time of Darwin.

18 Apr 2025

Researchers identify gene targets that may protect against Alzheimer’s

A study published in the American Journal of Human Genetics by researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital provides solutions to the pressing need to identify factors that influence Alzheimer's disease (AD) risk or resistance while providing an avenue to explore potential biological markers and therapeutic targets.

17 Apr 2025

New clues on how cells protect chromosome ends during division

A new study from Weill Cornell Medicine provides insights into how cells maintain the tiny end caps of chromosomes as they divide, a key process in keeping cells healthy.

17 Apr 2025

Researchers use algorithm to pinpoint disease risk mutations in noncoding DNA

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.

17 Apr 2025

Study unveils genetic pathway leading to cleft lip and palate formation

Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United States.

17 Apr 2025

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

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 genetic clues uncovered in epilepsy drug resistance

Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, finds a new global study led by researchers at UCL and UTHealth Houston.

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

New genetic study reveals hundreds of clues to osteoarthritis

About one in five American adults have osteoarthritis, the most common form of arthritis, according to the Centers for Disease Control and Prevention.

15 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

#RareDiseases - The EU Action Plan must step up European-national cooperation

A high-level conference convened in Warsaw under the auspices of the Polish Presidency of the Council of the European Union highlighted the importance of adopting a comprehensive Europe-wide policy framework on rare diseases.

15 Apr 2025

Northwestern scientists identify key genes behind Parkinson's development

A longstanding mystery in Parkinson's disease research has been why some individuals carrying pathogenic variants that increase their risk of PD go on to develop the disease, while others who also carry such variants do not.

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

Breakthrough in chicken genomics offers hope against avian influenza

An international team of researchers led by Professor Huaijun Zhou from the UC Davis Department of Animal Science has created the first-ever detailed map of how genes are regulated in chickens - a breakthrough that could help scientists breed birds that are more resistant to diseases like avian influenza.

10 Apr 2025