Genomics

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GSA-MiXeR: A powerful tool to improve our understanding of heritable traits and diseases

Researchers from the University of Oslo have developed an innovative tool that promises to improve our understanding of heritable human traits and diseases.

4 Jun 2024

STew: A new method for unveiling the spatial fingerprint of diseases

In disease research, it's important to know gene expression and where in a tissue the expression is happening, but marrying the two sets of information can be challenging.

4 Jun 2024

New computational method developed for linking DNA marks to gene activity

Scientists at La Jolla Institute for Immunology (LJI) have developed a new computational method for linking molecular marks on our DNA to gene activity.

4 Jun 2024

Family's rare telomere mutation reveals new insights into telomere flexibility and disease

Researchers discovered a rare telomere mutation (TTAGGT) in a family, revealing that human telomeres can tolerate non-canonical sequences, impacting telomere maintenance and disease.

4 Jun 2024

Researchers show the interplay of socioeconomic status and genetics on disease risk

Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease.

3 Jun 2024

Embryo selection based on polygenic risk scores can be unreliable and unethical

Polygenic risk scores (PRSs) are estimates of an individual's susceptibility to a specific complex trait obtained by aggregating the effects of dozens, thousands, and potentially millions of genetic variants associated with that specific trait into a single figure.

31 May 2024

Polygenic risk score shows potential to predict survival outcomes in breast cancer patients

Data from a large prospective cohort study reveal that a polygenic risk score has the potential to predict survival outcomes in patients with breast cancer.

31 May 2024

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide.

31 May 2024

Life's Essential 8: key to reducing heart disease and mortality through epigenetics

Whether DNA methylation-based epigenetic age biomarkers mediate the associations between LE8 score and risks of CVD, CVD-specific mortality, and all-cause mortality.

31 May 2024

Researchers uncover two classes of genetic causes for pediatric chordoma

Little is known about the genetics and biology of chordoma, a rare and aggressive bone tumor. Chordomas occur in approximately one in a million people in the U.S. a year and only five percent of these are in children.

30 May 2024

Both too much and too little of a protein can lead to severe intellectual deficiencies

New research from the University of Lausanne reveals that both the excess and the deficiency of a single protein can lead to severe intellectual deficiencies.

30 May 2024

Miniaturized CRISPR protein opens door for gene therapy with adeno-associated virus

Researchers have developed a novel version of a key CRISPR gene-editing protein that shows efficient editing activity and is small enough to be packaged within a non-pathogenic virus that can deliver it to target cells.

30 May 2024

Decoding the function of SRSF1 protein in RNA splicing and translation regulation

RNA transcription is the genomic process in which a cell produces a duplicate of a gene's DNA sequence.

30 May 2024

Foam-based delivery system could revolutionize gene therapies

Foam mixed with medications is already used to treat conditions such as varicose veins, hemorrhoids, wounds on the skin and even hair loss.

29 May 2024

Researchers decode spatial structure of prime editor

Joint research led by Yutaro Shuto, Ryoya Nakagawa, and Osamu Nureki of the University of Tokyo determined the spatial structure of various processes of a novel gene-editing tool called "prime editor."

29 May 2024

Understanding genetic mosaicism in human cells

In a study led by Jan Korbel at the European Molecular Biology Laboratory (EMBL) and Ashley Sanders at the Berlin Institute for Medical Systems Biology of the Max Delbrück Center (MDC-BIMSB), researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations – copy number variations and chromosomal rearrangements, for example – without causing any apparent disease or abnormality.

28 May 2024

Comprehensive study provides new understandings of genomic influences on neuropsychiatric disease

A new analysis has revealed detailed information about genetic variation in brain cells that could open new avenues for the targeted treatment of diseases such as schizophrenia and Alzheimer's disease.

23 May 2024

UCLA research connects genetic risk and brain changes in autism

A groundbreaking study led by UCLA Health has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular and genetic activity across different layers of the brain.

23 May 2024

Novel catalog of gene-isoform variation unveiled in the developing human brain

A team led by researchers at UCLA and the University of Pennsylvania has produced a first-of-its kind catalog of gene-isoform variation in the developing human brain.

23 May 2024

Harnessing molecular pathways governed by key gene to enhance wheat yields

A study from the University of Adelaide has discovered molecular pathways regulated by a gene traditionally used to control wheat-flowering behavior could be altered to achieve greater yields.

23 May 2024

Genomics

GSA-MiXeR: A powerful tool to improve our understanding of heritable traits and diseases

STew: A new method for unveiling the spatial fingerprint of diseases

New computational method developed for linking DNA marks to gene activity

Family's rare telomere mutation reveals new insights into telomere flexibility and disease

Researchers show the interplay of socioeconomic status and genetics on disease risk

Embryo selection based on polygenic risk scores can be unreliable and unethical

Polygenic risk score shows potential to predict survival outcomes in breast cancer patients

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Life's Essential 8: key to reducing heart disease and mortality through epigenetics

Researchers uncover two classes of genetic causes for pediatric chordoma

Both too much and too little of a protein can lead to severe intellectual deficiencies

Miniaturized CRISPR protein opens door for gene therapy with adeno-associated virus

Decoding the function of SRSF1 protein in RNA splicing and translation regulation

Foam-based delivery system could revolutionize gene therapies

Researchers decode spatial structure of prime editor

Understanding genetic mosaicism in human cells

Comprehensive study provides new understandings of genomic influences on neuropsychiatric disease

UCLA research connects genetic risk and brain changes in autism

Novel catalog of gene-isoform variation unveiled in the developing human brain

Harnessing molecular pathways governed by key gene to enhance wheat yields

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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