Genomics

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Nanopore sequencing unveils novel telomere length patterns

We depend on our cells being able to divide and multiply, whether it's to replace sunburnt skin or replenish our blood supply and recover from injury.

12 Apr 2024

Baylor study reveals role of newly inherited DNA variants in recessive diseases

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface.

10 Apr 2024

Enhancer-gene mapping with SCENT method offers insights into disease mechanisms

Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes in cell populations assumed to be driving disease.

10 Apr 2024

Specific genetic mutations found to be responsible for Dubin-Johnson syndrome

Researchers in China and Italy have made a significant breakthrough in understanding Dubin-Johnson syndrome (DJS), a rare inherited liver disorder.

9 Apr 2024

Researchers elucidate how gene mutation mechanism causes autism

Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism.

9 Apr 2024

Researchers develop first genetic maps for disease-linked DNA repeats

A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington's disease and multiple cancers.

5 Apr 2024

Modeled human embryo produces a membrane that surrounds the developing embryo

A MedUni Vienna study team led by geneticist Markus Hengstschläger has used a stem cell model to model the earliest stages of embryonic development and to characterize the membrane that surrounds the embryo, conferring shape and stability.

5 Apr 2024

UC San Diego researchers discover genetic connections to alcohol consumption

A research group centered at the University of California San Diego School of Medicine has drilled deep into a dataset of over 3 million individuals compiled by the direct-to-consumer genetics company 23andMe, Inc., and found intriguing connections between genetic factors influencing alcohol consumption and their relationship with other disorders.

5 Apr 2024

Gene defect associated with argininosuccinic aciduria corrected using CRISPR-Cas9 technique

Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a disease that has been enriched in the Finnish genetic heritage.

4 Apr 2024

Study identifies genetic variants with profound impact on obesity risk

A study led by Medical Research Council (MRC) researchers has identified genetic variants in two genes that have some of the largest impacts on obesity risk discovered to date.

4 Apr 2024

Genetic analysis reveals hidden causes of chronic kidney disease in adults

Chronic kidney disease (CKD) is extremely prevalent among adults, affecting over 800 million individuals worldwide.

3 Apr 2024

Genetic risk scores in life insurance underwriting fuel discrimination fears

The integration of genetic risk information, specifically polygenic scores, in life insurance underwriting raises ethical, legal, and social concerns about genetic discrimination, necessitating clear policies and further research.

2 Apr 2024

Rare variants in the YKT6 gene cause new neurological disorder, study finds

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

1 Apr 2024

UVA researchers discover Y chromosome gene linked to heart failure in men

University of Virginia School of Medicine researchers have discovered a gene on the Y chromosome that contributes to the greater incidence of heart failure in men.

1 Apr 2024

Understanding the genetics behind thyroid cancer to prevent unnecessary invasive treatments

Researchers at the University of Colorado School of Medicine are hopeful new research could prevent up to 130,000 unneeded fine-needle aspiration (FNA) biopsies of thyroid nodules and subsequent surgeries each year in the United States by better understanding the genetic risk associated with thyroid cancer.

1 Apr 2024

Researchers decode the evolutionary pathway of regulatory proteins

New research from the University of Wisconsin–Madison decodes the evolutionary pathway of regulatory proteins, the molecules that help control gene expression.

29 Mar 2024

Uncovering gender-specific genetic alterations in cancer

Recent research spearheaded by Chunmei Cui at the State Key Laboratory of Vascular Homeostasis and Remodeling, Peking University, China, casts a new light on the nuanced interplay between gender and cancer, uncovering significant sex-specific disparities in copy number alterations (CNA) across various cancer types.

29 Mar 2024