Genomics

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Inherited gene sequences predict breast cancer type and severity, study reveals

A Stanford Medicine study of thousands of breast cancers has found that the gene sequences we inherit at conception are powerful predictors of the breast cancer type we might develop decades later and how deadly it might be.

7 Jun 2024

Study sheds light on the rate and nature of mutations in mitochondrial DNA

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

7 Jun 2024

Gene therapy trial: restored hearing in children with hereditary deafness

The safety and effectiveness of binaural adeno-associated virus 1 (AAV1)-human otoferlin (hOTOF) therapy in five children with autosomal recessive deafness 9 (DFNB9).

7 Jun 2024

Genetic discovery reveals key to inflammatory diseases

Researchers discovered that a specific haplotype on chromosome 21 is linked to five inflammatory diseases, offering insights into potential new treatments.

7 Jun 2024

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Researchers at the University of Kentucky Sanders-Brown Center on Aging are working to develop a pre-symptomatic disease diagnostic tool for Alzheimer's disease.

6 Jun 2024

Discovery of Ptr gene revolutionizes understanding of plant immunity against fungal infections

Blast disease, caused by the fungus Magnaporthe oryzae, is a veritable plague in agriculture. In addition to devastating rice crops – the staple food of 60% of the world's population – it began attacking wheat in the 1980s, across a growing area of distribution and with a serious risk of emergence in Europe.

5 Jun 2024

New method developed for target DNA sequence amplification, testing and analysis

A team of researchers from the Case Western Reserve University School of Medicine has developed a new method for target DNA sequence amplification, testing and analysis.

5 Jun 2024

Novel technique maps enhancer-gene interactions in single cells

The human genome contains about 23,000 genes, but only a fraction of those genes are turned on inside a cell at any given time.

5 Jun 2024

Study uncovers genetic clues to the cause of restless leg syndrome

Scientists have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults.

5 Jun 2024

Study reveals new insight into how human telomeres function at the molecular level

The length of telomeres that protect the ends of our chromosomes should be tightly regulated. Those that are too long predispose to cancer, and those that are too short lose their protective ability, resulting in telomere disorders with serious health consequences.

4 Jun 2024

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

Genomics

Inherited gene sequences predict breast cancer type and severity, study reveals

Study sheds light on the rate and nature of mutations in mitochondrial DNA

Gene therapy trial: restored hearing in children with hereditary deafness

Genetic discovery reveals key to inflammatory diseases

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Discovery of Ptr gene revolutionizes understanding of plant immunity against fungal infections

New method developed for target DNA sequence amplification, testing and analysis

Novel technique maps enhancer-gene interactions in single cells

Study uncovers genetic clues to the cause of restless leg syndrome

Study reveals new insight into how human telomeres function at the molecular level

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

Discover how SciY empowers scientists

Why use light scattering to analyze proteins and viral vectors?

Changing the landscape of R&D to build clinical success from the ground up

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