Genomics

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Genetic insights transform treatment for children with developmental disorders

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) study, finds a new study.

15 Oct 2024

Genetics identified as key factor in gout development

A major international study has found gout is a chronic illness where genetics is a major cause, rather than lifestyle choices of the sufferer.

15 Oct 2024

Extrachromosomal DNA in more aggressive cancers could be targets for future therapies

Research published in Nature Genetics on Oct.14, by Yale Cancer Center researchers at Yale School of Medicine, found a higher concentration of a specific kind of DNA — extrachromosomal or ecDNA — in more aggressive and advanced cancers that could mark them as targets for future therapies.

15 Oct 2024

Genomic findings shed light on ancient Japanese population origins

A joint research group led by Jonghyun Kim and Jun Ohashi of the University of Tokyo has demonstrated that the majority of immigration to the Japanese Archipelago in the Yayoi and Kofun periods (between 3000 BCE and 538 CE) came from the Korean Peninsula.

14 Oct 2024

Uncovering human-specific genes linked to brain development and disorders

The human brain's remarkably prolonged development is unique among mammals and is thought to contribute to our advanced learning abilities.

14 Oct 2024

University of Michigan receives $30 million grant to enhance genetic data storage

The University of Michigan will dramatically boost the amount and type of genetic information stored in its massive TOPMed data center and used by researchers and healthcare providers around the world looking to genomes to treat disease.

14 Oct 2024

Epigenomic dynamics shape human brain development and neuropsychiatric disorder risks

Researchers investigate chromatin conformational and epigenomic reorganization during the development of the prefrontal cortex and hippocampus.

14 Oct 2024

Discovery of USP50 protein sheds light on DNA replication processes

A protein that is involved in determining which enzymes cut or unwind DNA during the replication process has been identified in a new study.

14 Oct 2024

Computational tools unlock the secrets of the genome

In collaboration with the International Conference on Research in Computational Molecular Biology (RECOMB), Genome Research publishes a collection of 20 computational methods and their applications in genomics including spatial, single-cell, and long-read sequencing.

13 Oct 2024

Ultra-rare gene variants drive coronary artery disease risk in European ancestry

Researchers found that ultra-rare genetic variants play a significant role in the heritability of coronary artery disease (CAD), particularly in individuals of European ancestry. These variants, especially those altering proteins or regulating genes in heart cells, pose higher risks than common variants.

13 Oct 2024

Anne Bang joins research to understand the genetic underpinnings of psychiatric conditions

Scientists have linked neuropsychiatric disorders, such as schizophrenia and autism, to changes in many genes involved in early brain development.

12 Oct 2024

Skin pigmentation may affect drug efficacy and safety

Skin pigmentation may act as a "sponge" for some medications, potentially influencing the speed with which active drugs reach their intended targets, a pair of scientists report in a perspective article published in the journal Human Genomics.

10 Oct 2024

Grant supports gene-editing research for rare metabolic diseases

A $14M grant will fund research on gene-editing therapies for rare metabolic diseases at the Perelman School of Medicine at the University of Pennsylvania (Penn) and Children's Hospital of Philadelphia (CHOP).

10 Oct 2024

Alcohol's effects on embryo development detected in late-gestation placenta

A new study led by Pr. Serge McGraw, researcher at CHU Sainte-Justine and professor at Université de Montréal, shows that the effects of alcohol exposure on an embryo prior to implantation in the uterus can be detected in the late-gestation placenta.

9 Oct 2024

First map of DNA modification in the hippocampus and prefrontal cortex created

A UCLA-led study has provided an unprecedented look at how gene regulation evolves during human brain development, showing how the 3D structure of chromatin - DNA and proteins - plays a critical role.

9 Oct 2024

Study reveals why paternal mitochondria must be removed during early development

It's one of the basic tenets of biology: We get our DNA from our mom and our dad.

9 Oct 2024

Combination of 14 'skinny genes' could be the key to weight loss

The secret to losing weight could all be down to a combination of 14 'skinny genes', a new study has found.

9 Oct 2024

Overcoming CRISPR's side effects for therapeutic applications

CRISPR is a revolutionary tool that allows scientists to precisely modify the genome and gene expression of cells in any organism. It's a reagent - a substance that facilitates a reaction - that combines an enzyme with a programmable RNA capable of locating specific genetic sequences. Once guided to the correct spot, the enzyme acts like a pair of scissors, cutting, replacing, or deleting sequences of DNA.

7 Oct 2024

Researchers uncover how senescent cells can both harm and heal in liver disease

Researchers developed novel genetic tools to trace, ablate, and manipulate p16^Ink4a+^ senescent cells, revealing their distinct roles in liver fibrosis and repair. Senescent macrophages promote fibrosis, while endothelial cells aid in tissue recovery.

7 Oct 2024