Category: <span>Genetics</span>

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Epigenomic map reveals circuitry of 30,000 human disease regions
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Epigenomic map reveals circuitry of 30,000 human disease regions

by  Massachusetts Institute of Technology Credit: CC0 Public Domain Twenty years ago this month, the first draft of the human genome was publicly released. One of the major surprises that came from that project was the revelation that only 1.5 percent of the human genome consists of protein-coding genes. Over the past two decades, it has...

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Geisinger-GeneDx research identifies frequent genetic causes of cerebral palsy

GEISINGER HEALTH SYSTEM DANVILLE, Pa. and GAITHERSBURG, Md. – Researchers have discovered a strong link between genetic changes known to cause neurodevelopmental disabilities and cerebral palsy.  Cerebral palsy affects movement and posture and often co-occurs with other neurodevelopmental disorders, including intellectual disability, epilepsy and autism spectrum disorder. Individual cases of cerebral palsy are often attributed to birth...

Study offers hope of new treatment for accelerated aging in children
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Study offers hope of new treatment for accelerated aging in children

Researchers from Karolinska Institutet and Gothenburg University have investigated a potential new drug target for the rare genetic disorder Hutchinson-Gilford progeria syndrome that causes accelerated aging in children. The findings in mice are published in the scientific journal eLife and may aid in the development of more effective treatments for this fatal condition. Hutchinson-Gilford progeria syndrome,...

A potentially safer, more effective gene therapy vector for blood disorders
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A potentially safer, more effective gene therapy vector for blood disorders

by  Children’s Hospital of Philadelphia Credit: CC0 Public Domain Researchers at Children’s Hospital of Philadelphia (CHOP) have developed a gene therapy vector for blood disorders like sickle cell disease and beta-thalassemia that is potentially safer and more effective than those currently used in gene therapy trials for those conditions. The vector, an engineered vehicle for delivering functional...

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Genetic screening before prescribing could benefit millions

UNIVERSITY OF EAST ANGLIA Four million UK patients could benefit annually from genetic testing before being prescribed common medicines, according to new research from the University of East Anglia (UEA) in collaboration with Boots UK and Leiden University (Netherlands).  Researchers looked through 2019 NHS dispensing data across the UK to see how many patients are...

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First hybrid gene therapy shows early promise in treating long QT syndrome

MAYO CLINIC ROCHESTER, Minn. — In a new study published in Circulation, Mayo Clinic researchers provide the first preclinical, proof-of-concept study for hybrid gene therapy in long QT syndrome, a potentially lethal heart rhythm condition. Researchers demonstrated its potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from the blood samples of patients with...

New gene variant linked to stroke
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New gene variant linked to stroke

by  Lund University Credit: CC0 Public Domain Researchers at Lund University in Sweden believe they have identified a gene variant that can cause cerebral small vessel disease and stroke. The study is published in Neurology Genetics. “The patients we have studied are from the same extended family, and several of them have been diagnosed with cerebral small vessel...

Surprising Behavior of Transcription Factors Challenges Theories of Gene Regulation
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Surprising Behavior of Transcription Factors Challenges Theories of Gene Regulation

How cells develop and the diseases that arise when development goes wrong have been a decades-long research focus in the laboratory of Distinguished Professor of Biology Ellen Rothenberg. In particular, the lab studies the development of immune cells known as T cells, which act as “intelligence agents”—they circulate throughout the body, detect threats, and determine what kind of...

Epigenetic mechanisms that regulate macrophage inflammation discovered
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Epigenetic mechanisms that regulate macrophage inflammation discovered

by  Karolinska Institutet Model highlighting epigenetic chromatin remodeling at the Ccl2 locus, encoding the pro-inflammatory chemokine CCL2 (MCP-1), a potential therapeutic target. Credit: Zhiqiang Huang and Rongrong Fan How do cis-regulatory genome elements regulate gene expression, what are the critical components involved, and can we therapeutically target them? By investigating how corepressors modulate enhancers and silencers...

Beyond changing DNA itself, mutagens also cause errors in gene transcription
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Beyond changing DNA itself, mutagens also cause errors in gene transcription

Exposure to mutagens, or mutation-causing agents, can not only bring about changes in DNA but also appear to induce errors when genes are transcribed to make proteins, which may be an important factor in age-related diseases. USC Leonard Davis School of Gerontology Assistant Professor Marc Vermulst and colleagues made the discovery by using state-of-the-art circle sequencing techniques...