Genomics

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Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory bowel disease.

30 Jul 2021

New integrative NGS panel for analysis of standard and novel biomarkers in lymphoid neoplasms

Increasing knowledge about genomic biomarkers has facilitated better monitoring and personalized management of patients with B-cell malignant tumors.

29 Jul 2021

Cats could be a valuable model organism for geneticists, expert says

Although cats have lived alongside humans for millennia, it remains a dogs' world. This bias has historically bled into science as well.

28 Jul 2021

Analysis of DNA tags could advance the understanding and treatment of many cancers

Cell-free DNA (cfDNA) shed into the blood was discovered in the late 1940s but with rapid advances in genomics and computational analytics in just the past few years, researchers at Georgetown Lombardi Comprehensive Cancer Center now believe that studying tags, or modifications to this type of DNA, may lead to a better understanding of how to assess, and possibly modulate, treatment approaches for cancer and other diseases.

27 Jul 2021

Newly identified ultra-rare inherited genetic variants may confer significant autism risk

Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in "multiplex" families with more than one family member on the spectrum.

26 Jul 2021

Study brings scientists one step closer to solving the mystery of aging

The human body is essentially made up of trillions of living cells. It ages as its cells age, which happens when those cells eventually stop replicating and dividing.

23 Jul 2021

Researchers develop a transferrable and integrative type I CRISPR-based platform to edit superbugs

A research team led by Dr Aixin YAN, Associate Professor from the Research Division for Molecular & Cell Biology, Faculty of Science, in collaboration with Honorary Clinical Professor Patrick CY WOO from the Department of Microbiology, Li Ka Shing Faculty of Medicine, the University of Hong Kong, reported the development of a transferrable and integrative type I CRISPR-based platform.

23 Jul 2021

Artificial intelligence tool enriches a gold-mine in cancer genomics

The fragments of cancer DNA analysed by the authors of this new study originate from the human genome, the sequence of which results from millions of years of evolution, and has been shaped by "copy-paste-edit" processes and co-evolution with parasitic elements.

22 Jul 2021

Study increases knowledge of the genetics behind aortic aneurysm

A new study increases knowledge of the genetics behind aortic aneurysm, a disease that can spark life-threatening events like aortic dissections and ruptures.

22 Jul 2021

Vitamin C and TET proteins can work together to give regulatory T cells their life-saving power

You can't make a banana split without bananas. And you can't generate stable regulatory T cells without Vitamin C or enzymes called TET proteins, it appears.

21 Jul 2021

IgA deficiency results in substantial intestinal inflammation, study reveals

While researchers have known for years that immunoglobulin A (IgA) is important for gut health, it has remained unclear exactly what role it plays in preventing infection and disease. But now, researchers from Japan have found that eliminating IgA disrupts the balance of the intestinal ecosystem, making it susceptible to disease.

20 Jul 2021

Computer scientists aim to reveal the evolutionary trees of cancer mutations

Rice University computer scientists will take full advantage of new technology to sequence the genome of a single cell and decode mysteries contained in tumors.

19 Jul 2021

Scientists deconstruct the protein-based machine responsible for SARS-CoV-2 replication

In February 2020, a trio of bio-imaging experts were sitting amiably around a dinner table at a scientific conference in Washington, D.C., when the conversation shifted to what was then a worrying viral epidemic in China.

19 Jul 2021

Research shows a direct link between SUV39H2 gene and autism spectrum disorders

New research from the RIKEN Center for Brain Science in Japan shows that a deficit in histone methylation could lead to the development of autism spectrum disorders (ASD).

16 Jul 2021

Understanding the molecular mechanisms behind lung cancer relapse

When a doctor gives a patient antibiotics for a bacterial infection, they usually require them to finish the entire treatment, even when symptoms go away.

13 Jul 2021

Researchers gain new insights into the pathology of Usher syndrome

Human Usher syndrome (USH) is the most common form of hereditary deaf-blindness. Sufferers can be deaf from birth, suffer from balance disorders, and eventually lose their eyesight as the disease progresses.

12 Jul 2021

Researchers discover new genetic driver of autism and other developmental disorders

A research group including Kobe University's Professor TAKUMI Toru (also a Senior Visiting Scientist at RIKEN Center for Biosystems Dynamics Research) and Assistant Professor TAMADA Kota, both of the Physiology Division in the Graduate School of Medicine, has revealed a causal gene (Necdin, NDN) in autism model mice that have the chromosomal abnormality called copy number variation.

9 Jul 2021

Mating can turn off a single gene for multiple generations, study shows

Evidence suggests that what happens in one generation--diet, toxin exposure, trauma, fear--can have lasting effects on future generations.