Genomics

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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

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

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

Largest study of osteoarthritis genetics uncovers new drug targets

Osteoarthritis is the leading cause of disability and chronic pain worldwide, affecting an estimated 595 million people globally.

9 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

New STITCHR tool offers a promising step forward for gene therapy

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

9 Apr 2025

ETH Zurich researchers identify redundancies between the genes involved in DNA repair

Researchers aThe DNA of human cells consists of a sequence of about 3.1 billion building blocks. Cells go to great lengths to maintain the integrity of this vast store of information.t ETH Zurich have unraveled the complex network that cells use to repair their genetic material.

9 Apr 2025

Study uncovers conserved development and evolutionary innovations in the human hypothalamus

In a new study published in Developmental Cell on April 8, a research team led by Prof. WU Qingfeng at the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences has demonstrated the conserved cellular development and evolutionary innovations in the developing human hypothalamus.

9 Apr 2025

Unexpected function of gene network in gut microbes revealed

Could a gene regulatory network in gut microbes have evolved its elaborate and tightly regulated molecular machinery only to pump out antibiotics indiscriminately? Researchers from the Institute of Science and Technology Austria (ISTA) show this is an auxiliary function.

8 Apr 2025

Faulty gene linked to increased risk of punctured lung in thousands

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, according to new estimates from Cambridge researchers. Previous estimates had put this risk closer to one in 200,000 people.

7 Apr 2025