Category: <span>Genetics</span>

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Impact of DNA mutations on lifelong blood cell production uncovered

Researchers discover how leukemia-associated gene mutations steadily commandeer blood cell production over a lifetime, and how these changes relate to aging and cancer development. New research has uncovered how genetic mutations hijack the production of blood cells in different periods of life. Scientists at the Wellcome Sanger Institute, the Cambridge Stem Cell Institute, EMBL’s European Bioinformatics...

Researchers ID gene critical to human immune response
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Researchers ID gene critical to human immune response

by Cedars-Sinai Medical Center Credit: CC0 Public Domain Cedars-Sinai investigators have identified a gene that plays an essential role in the innate human immune system. The gene, NLRP11, helps activate the inflammatory response that tells the body’s white blood cells to go on the attack against a foreign presence. The findings, published in Nature Immunology, bring...

Researchers show that mutations in DNA can be corrected with short-term expression of gene editing tools
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Researchers show that mutations in DNA can be corrected with short-term expression of gene editing tools

by Karolinska Institutet Left: Schematic drawing of the HGPS mutation correction by an adenine base editor (ABE), created with Biorender. Illustration: Daniel Whisenant. Right: 21 year old patient with Hutchinson-Gilford progeria syndrome. Credit: provided by The Progeria Research Foundation; informed consent obtained by The Progeria Research Foundation The most common mutation in the human genome...

Mutant gene stops at-risk people from getting Alzheimer’s: Could it lead to treatment?
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Mutant gene stops at-risk people from getting Alzheimer’s: Could it lead to treatment?

by Dennis Thompson  The APOE4 gene is the most powerful genetic factor driving a person’s risk for developing late-onset Alzheimer’s disease. “It probably increases your risk two or threefold if you have one APOE4 copy, and if you have two APOE4 copies, it probably increases your risk about tenfold,” said Dr. Michael Greicius, a professor of...

Your liver is just under three years old
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Your liver is just under three years old

by Dresden University of Technology Human liver is composed of cells with different amounts of DNA. Most of the cells have just two copies of DNA, as the cell indicated with a white arrow. Some cells accumulate more sets of DNA, like the ones indicated with yellow arrows. Those various types of cells renew differently....

Gene-editing experiment turns fluffy hamsters into ‘aggressive’ mutant rage monsters
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Gene-editing experiment turns fluffy hamsters into ‘aggressive’ mutant rage monsters

Jeff Parsons Friday 27 May 2022 10:12 am Syrian hamsters were chosen for the experiment because they have a social organisation similar to humans (Credits: Getty) A team of scientists in the US have accidentally created overly-aggressive mutant hamsters following a gene-editing experiment. Using the controversial CRISPR technology, researchers at Northwestern University were examining a hormone...

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Researchers discover genetic mechanism associated with autism, schizophrenia, and other conditions

Researchers at Tel Aviv University (TAU) have unraveled a mechanism shared by mutations in the genes ADNP and SHANK3, which cause autism, schizophrenia, and other conditions. The researchers also found that an experimental drug previously developed in their lab is effective in lab models for these mutations and may be suitable for treating a range of rare syndromes...

How a genetic mutation affects the body’s immune system response to viruses, development of blood cancers – immunology – genetics – research Inbox
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How a genetic mutation affects the body’s immune system response to viruses, development of blood cancers – immunology – genetics – research Inbox

by University of Saskatchewan Graphical abstract. Credit: Cell Reports (2022). DOI: 10.1016/j.celrep.2022.110856 The body’s innate immune system, active from birth, is the first line of defense against viruses and other pathogens that cause disease. Using vaccination as an example, after receiving a vaccine, pain, redness, or swelling may occur at the injection site. This response is a...

Genetic test can diagnose certain immune system disorders
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Genetic test can diagnose certain immune system disorders

by Elsevier Credit: Pixabay/CC0 Public Domain Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The Journal of Molecular Diagnostics, investigators used next-generation sequencing technology to test a DNA panel of 130 different...

A subtle genetic change gives new clues about epilepsy
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A subtle genetic change gives new clues about epilepsy

LINKÖPING UNIVERSITY IMAGE: ANTONIOS PANTAZIS, ASSOCIATE PROFESSOR AT THE DEPARTMENT OF BIOMEDICAL AND CLINICAL SCIENCES, AND THE WALLENBERG CENTER FOR MOLECULAR MEDICINE AT LINKÖPING UNIVERSITY. CREDIT: MAGNUS JOHANSSON/LINKÖPING UNIVERSITY Sometimes, even the alteration of a single nucleotide in a gene can cause serious disease. In a young boy with epilepsy, this kind of mutation has...