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Category: genetics – Page 28

Tune Therapeutics, a Durham biotechnology startup co-founded by a Duke professor, announced the completion of its Series B fundraising round on Jan. 12, in which it raised $175 million to support clinical trials for its epigenome editor.

The company will use the funding to advance clinical trials for Tune-401, the epigenetic silencing drug for treating chronic Hepatitis B — a viral infection that damages the liver and affects millions globally. The investment will also support the development of various other therapies, including additional gene, cell and regenerative therapy programs.

“The goal is to epigenetically repress the virus to prevent it from being able to replicate and make the viral proteins that it would normally produce,” said Charles Gersbach, John W. Strohbehn distinguished professor of biomedical engineering and cofounder of Tune Therapeutics.

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We often discuss cybernetic, genetic engineering, artificial intelligence, and hybrids of them, but what truly is synthetic life? And what is it like?

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Credits:
Synthetic Life.
Science & Futurism with Isaac Arthur.
Episode 333a, March 13, 2022
Written, Produced & Narrated by Isaac Arthur.

Editors:
David McFarlane.
Jason Burbank.
Jerry Guern.

Cover Art:
Jakub Grygier https://www.artstation.com/jakub_grygier.

Music Courtesy of Epidemic Sound http://epidemicsound.com/creator

Continue reading “Creating Synthetic Life” | >

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Continue reading “Rapamycin Rejuvenates The Immune System (Clip)” | >

A significant advancement in knowledge of the link between cognition and genetics has been made thanks to a study led by Université de Montréal graduate students Guillaume Huguet and Thomas Renne, working under the supervision of medical geneticist Sébastien Jacquemont, an associate professor of pediatrics and a researcher at the UdeM-affiliated CHU Saint-Justine.

Published in Cell Genomics, the research explored how the copy number variation, or CNV, of certain DNA segments can influence cognitive abilities.

Analyzing the CNV of nearly 260,000 people in the general population, the scientists were able to compare each individual’s CNV and cognition to define a reference model—a kind of “map” of the effects of CNV on cognition, such as the intelligence quotient and memory—and to establish links between these CNVs and achievements within the brain, as well as in other organs and tissues.

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A team of researchers at CHU Sainte-Justine and Université de Montréal has succeeded in using bioinformatics to develop a statistical model to assess how the gain or loss of genetic material impacts the risk of autism.

The results of this work are presented today in the American Journal of Psychiatry.

This project highlights the fact that, besides the formally associated with autism, there are thousands of genes in the that contribute to increasing the risk and severity of autism based on genetic scores.

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Common genetic variants may underlie autism spectrum disorder and schizophrenia across human populations, according to a study appearing September 11th in the journal Cell Reports. In line with previous studies in Caucasians, the researchers found that Japanese individuals with autism spectrum disorder and schizophrenia have overlapping copy number variations (CNVs)—inter-individual variations in the number of copies of a particular gene.

“The strength of our study is the systematic head-to-head comparison of pathogenic CNVs and biological pathways between and ,” says senior study author Norio Ozaki of Nagoya University Graduate School of Medicine. “Previous studies in Caucasian populations found overlap in pathogenic CNVs between the two disorders, but their analyses were limited to a small number of genes and CNV loci.”

Autism spectrum disorder and schizophrenia have complex inheritance patterns, with multiple genetic and environmental factors influencing disease risk. Available evidence points to genetic overlap between the two clinically distinct disorders. For example, they tend to co-occur at a higher rate than would be expected in the general population, and a large epidemiological study showed that a family history of schizophrenia in first-degree relatives is a risk factor for spectrum disorder. In particular, previous studies have revealed that these two disorders are associated with an increased burden of CNVs, and that rare CNVs in specific loci are shared risk factors for both disorders.

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An international study led by the University of Oulu and Oulu University Hospital has identified six genetic regions associated with the inflammation of the eye’s iris, also known as anterior uveitis. The research also uncovered a genetic correlation between anterior uveitis and inflammatory bowel diseases (IBD). These findings contribute to a better understanding of the mechanisms behind anterior uveitis and its connection to common autoimmune diseases.

Each year, approximately 600 Finns are diagnosed with anterior uveitis. This is an intraocular inflammation that can occur at any age but is most common in individuals aged 20–50. Anterior uveitis is known to be associated with several , and certain tissue types may also predispose individuals to it. However, the precise mechanisms underlying the disease remain largely unknown, and the root cause often remains unclear.

The aim of the study was to investigate the genetic background of anterior uveitis, a field in which knowledge has been limited. This extensive international collaboration utilized biobank data from Finland, Estonia, and the United Kingdom, enabling comparisons between more than 12,000 patients with anterior uveitis and nearly 1 million controls.

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People with shorter telomeres — the protective caps at the ends of their chromosomes — may have a higher risk of developing age-related brain diseases such as stroke, dementia, and late-life depression (typically diagnosed at age 60 or older). This finding comes from a preliminary study set to be presented at the American Stroke Association’s International Stroke Conference 2025, a leading global event for stroke and brain health research, taking place in Los Angeles from February 5–7, 2025.

Telomere length in white blood cells (leukocytes), known as leukocyte telomere length, is a well-established marker of biological aging. As people age, telomeres naturally shorten, reducing their ability to protect chromosomes, which accelerates cellular aging and increases vulnerability to age-related diseases. While telomere length is partly determined by genetics, ancestry, and gender, it is also influenced by lifestyle factors and environmental stressors such as diet, exercise, and pollution.

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RNA sequencing has emerged as a powerful tool for detecting various types of cancers and gaining a deeper understanding of tumor biology.

However, many samples used in these analyses are derived from tumor tissues preserved as formalin-fixed paraffin-embedded (FFPE) blocks. While FFPE blocks are excellent for histological examination, they pose significant challenges for molecular analysis due to the potential degradation or crosslinking of genetic material.

This application note describes the use of targeted custom RNA panels to overcome these challenges by enabling the robust and sensitive detection of gene expression profiles from FFPE non-small cell lung cancer samples.

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