Genomics

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Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome

Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children.

1 Jul 2021

Study offers clues for earlier diagnosis of folate deficiency

As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be a life-long struggle which can lead to serious neurological and heart problems and even death.

1 Jul 2021

Researchers discover genetic markers that drive the timing of first sex and birth

An Oxford-led team, working with Cambridge and international scholars, has discovered hundreds of genetic markers driving two of life's most momentous milestones - the age at which people first have sex and become parents.

1 Jul 2021

Reduced function of key gene may affect communication between motor neurons and muscles in ALS

Amyotrophic lateral sclerosis, or ALS, attacks nerve cells known as motor neurons in the brain and spinal cord, gradually leading to paralysis.

30 Jun 2021

New method to transport RNA-based drugs to subpopulation of immune cells

Tel Aviv University's groundbreaking technology may revolutionize the treatment of cancer and a wide range of diseases and medical conditions. In the framework of this study, the researchers were able to create a new method of transporting RNA-based drugs to a subpopulation of immune cells involved in the inflammation process, and target the disease-inflamed cell without causing damage to other cells.

30 Jun 2021

DNA sequencing from water and leech bloodmeals helps identify novel mammalian viruses

In a new scientific investigation headed by the German Leibniz Institute for Zoo and Wildlife Research, water from African and Mongolian waterholes as well as bloodmeals from Southeast Asian leeches were assessed for the ability to retrieve mammalian viruses without the need to find and catch the mammals.

28 Jun 2021

RAMBO can cut indexing times for huge DNA databases

Rice University computer scientists are sending RAMBO to rescue genomic researchers who sometimes wait days or weeks for search results from enormous DNA databases.

28 Jun 2021

New analysis links distinct patterns of genetic mutations with OCD

In the first analysis of its kind, researchers at Columbia University Vagelos College of Physicians and Surgeons and several other institutions have linked distinct patterns of genetic mutations with obsessive-compulsive disorder (OCD) in humans.

28 Jun 2021

First CRISPR-Cas9-based gene drive cuts and copies genetic elements in Arabidopsis plants

With a goal of breeding resilient crops that are better able to withstand drought and disease, University of California San Diego scientists have developed the first CRISPR-Cas9-based gene drive in plants.

25 Jun 2021

TET enzymes play key role in keeping immune cells on a healthy track

Researchers at La Jolla Institute for Immunology (LJI) have shed light on a process in immune cells that may explain why some people develop cardiovascular diseases.

25 Jun 2021

New book improves understanding of rare disease genetics using genomic approaches

In 2018, Dr. Claudia Gonzaga-Jáuregui, who years before had completed her doctorate studies in Dr. James R. Lupski's lab at Baylor College of Medicine, received an email from an editor at Elsevier's Academic Press with a proposal that immediately caught her attention.

25 Jun 2021

Study introduces a new, improved CRISPR 3.0 system in plants

In a study in Nature Plants, Yiping Qi, associate professor of Plant Science at the University of Maryland (UMD), introduces a new and improved CRISPR 3.0 system in plants, focusing on gene activation instead of traditional gene editing.

25 Jun 2021

Turning down glial genes can help mitigate Huntington's disease pathogenesis

The brain is not a passive recipient of injury or disease. Research has shown that when neurons die and disrupt the natural flow of information they maintain with other neurons, the brain compensates by redirecting communications through other neuronal networks.

24 Jun 2021

Researchers create first detailed atlas of the developing mouse brain

Researchers at Harvard University and the Broad Institute of MIT and Harvard have created a first detailed atlas of a critical region of the developing mouse brain, applying multiple advanced genomic technologies to the part of the cerebral cortex that is responsible for processing sensation from the body.

24 Jun 2021

New tool can help conserve one of the UK’s most threatened mammals

A new tool to help conserve one of the UK’s most threatened mammals has been released today, with the publication of the first high-quality reference genome for the European water vole.

24 Jun 2021

Researchers unravel new mechanism that enables cancer development

Researchers at the University of North Carolina at Chapel Hill and the UNC Lineberger Comprehensive Cancer Center have uncovered a new mechanism that activates specific genes, leading to the development of cancers.

23 Jun 2021

Yeast cell machinery seamlessly 'reads' the unnatural ingredients in the genetic recipe

If the genome is the recipe of life, base pairs are the individual ingredients listed. These chemical structures form DNA, and every living organism on Earth has just four. The specific arrangements of these four base pairs -- A, T, C, G -- make us who and what we are.

18 Jun 2021

Study shows how epigenetic factors modulate the risk of type 1 diabetes

Genetics plays a major role in determining a person’s risk of developing type 1 diabetes, but environmental and lifestyle factors are also important. In an article recently published in Chinese Medical Journal, a team of researchers explore the interplay of genetic and environmental factors by summarizing the literature on type 1 diabetes and epigenetics—the study of how gene expression patterns can be modified.

18 Jun 2021

Citizens’ jury set to reflect deeply on the pros and cons of human genome editing

Two dozen ‘ordinary Aussies’ tackle whether scientists should be able to change our genes to prevent disease or create superhumans

17 Jun 2021

Global blood centers join hands to develop more efficient, accurate blood typing technology

Blood centers from around the world have united to form an international collaboration with academic research institutions and a leading genomic array company, Thermo Fisher Scientific, to deliver a technology which promises to make the future of blood transfusion therapy more efficient, cost-effective, accurate, standardized, and safer.

17 Jun 2021

Genomics

Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome

Study offers clues for earlier diagnosis of folate deficiency

Researchers discover genetic markers that drive the timing of first sex and birth

Reduced function of key gene may affect communication between motor neurons and muscles in ALS

New method to transport RNA-based drugs to subpopulation of immune cells

DNA sequencing from water and leech bloodmeals helps identify novel mammalian viruses

RAMBO can cut indexing times for huge DNA databases

New analysis links distinct patterns of genetic mutations with OCD

First CRISPR-Cas9-based gene drive cuts and copies genetic elements in Arabidopsis plants

TET enzymes play key role in keeping immune cells on a healthy track

New book improves understanding of rare disease genetics using genomic approaches

Study introduces a new, improved CRISPR 3.0 system in plants

Turning down glial genes can help mitigate Huntington's disease pathogenesis

Researchers create first detailed atlas of the developing mouse brain

New tool can help conserve one of the UK’s most threatened mammals

Researchers unravel new mechanism that enables cancer development

Yeast cell machinery seamlessly 'reads' the unnatural ingredients in the genetic recipe

Study shows how epigenetic factors modulate the risk of type 1 diabetes

Citizens’ jury set to reflect deeply on the pros and cons of human genome editing

Global blood centers join hands to develop more efficient, accurate blood typing technology

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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