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Category: genetics

New research exploring theories of aging has found that small mutations accumulating in DNA are unlikely to be fully responsible for this process.

The research, a collaboration between the Wellcome Sanger Institute, University of Birmingham, University of Edinburgh and others, found that and tissues can accumulate many more than are normally present, without the body showing the features associated with aging.

The new study, published today (30 September) in Nature Genetics, compared DNA taken from individuals with inherited mutations in genes involved in DNA replication with DNA from individuals who have normal versions of these genes. The researchers aimed to understand the impact of defective DNA replication on and features associated with aging. The results suggest that build-up of mutations in is unlikely to be the only factor in the development of age-related disease, adding to the ongoing debate about the causes of aging.

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Genetic diseases are a compelling target for viral gene therapy. One condition that scientists are investigating to see if they can treat with gene therapy is a rare genetic disease called Leber congenital amaurosis, or LCA is a progressive condition that disables critical cells within the retina. The damage begins at birth: it eventually robs patients of central vision and color perception, often rendering them legally blind. But there may be another way. On Wednesday, researchers presented evidence from a breakthrough gene-editing experiment that restored some color vision to patients with LCA vision loss.

CRISPR is already under investigation as a gene therapy for blood disorders like sickle cell disease and beta-thalassemia. It may well have other uses, such as treating cancer by editing mutated DNA. But the process is not without its hurdles. Treatments for blood disorders like these involve taking cells from the patient’s body, changing them in vitro in the lab, and then re-infusing them back into the patient’s body. That works great for blood, which you can take out, filter, and put back in with relatively few consequences.

But because LCA is a disease of the retina, you can’t just take out cells and then infuse them back in. The retina is a delicate, multilayered membrane that resents any disturbance. The eye also has a system of physical defenses not unlike the blood-brain barrier. Furthermore, the immune system sometimes responds with extreme prejudice to eye injuries or infections, to the point of causing an actual autoimmune disease where the body attacks its own eyes. How, then, could researchers get the CRISPR treatment into the retina, past the body’s ferocious defenses and without further damage?

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(https://www.linkedin.com/in/evelyne-yehudit-bischof/) is an expert in internal medicine and oncology, with a focus on preventative and precision medicine, bio-gerontology, and geronto-oncology.

Dr. Bischof is deeply passionate about next-generation medical technology, and the applications of artificial intelligence for biomedical research and practice.

Dr. Bischof spent a decade practicing medicine and performing translational research in Switzerland, US, and China.

Dr. Bischof is a medical doctor with an MD from Max Planck Institute for Molecular Biology and Genetics, and interned at Columbia University, Harvard MGH, and Beth Israel Medical Deaconess.

Dr. Bischof is the author of over 40 peer-reviewed papers and is a frequent speaker at scientific and medical conferences.

Dr. Bischof serves as Assistant Professor — Shanghai University of Medicine and Health Sciences; Associate Faculty Shanghai Jiao Tong University, and Researcher at University Hospital of Basel.

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Fixing breaks in genes with speed and perfection can be a matter of life and death for most organisms. Even the simplest changes in a sequence risk catastrophe, especially if the altered code is responsible for a critical function.

Over the past half a century, biologists have studied the mechanisms involved to piece together most of the major steps involved in making faithful repairs in DNA. Yet, one part of the process has remained frustratingly unclear.

By marking key enzymes and DNA with fluorescent tags and watching the repair process unfold in real-time in an Escherichia coli model, researchers from Uppsala University in Sweden have filled in missing details on how bacteria find the templates they rely on to keep genetic repairs error-free.

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New #preprint from JAX’s Nadia Rosenthal and researchers at Rocky Mountain Laboratories: “Genetically diverse mouse models of SARS-CoV-2 infection recapitulate clinical variation and cytokine responses in COVID-19”

The preprint, which has yet to be peer reviewed, shows that mice with different genetic backgrounds exhibit highly variable responses to SARS-CoV-2 infection, mirroring the large differences in #COVID19 disease severity seen in humans:

Since the advent of the COVID-19 pandemic, tremendous progress has been made in developing effective vaccines against SARS-CoV-2, the coronavirus that causes COVID-19, and in treating ill patients. Nonetheless, much more needs to be learned about SARS-CoV-2 infectivity and COVID-19 progression to lessen the continuing threat of infection, as the recent emergence and rapid spread of the delta variant has emphasized.

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Excerpt of an interview made in May 2021 by “Richard”, who runs the Modern Healthspan YouTube Channel, to George Church, Professor of Genetics at Harvard Medical School and Professor of Health Sciences and Technology at Harvard and the Massachusetts Institute of Technology (MIT), among many other responsibilities as a hardwork geneticist.

In this segment, George Church gives his view on whether age reversal in humans and LEV may be achieved during his lifetime.

To watch the entire interview, clic here: https://youtu.be/mztOFAQf8uY

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The mouse study even offers a possible explanation as to why: Childhood infections may cause the body to over-express genes that code for microglia, the central nervous system’s primary immune cells. That, in turn, can affect brain development, which could be at play in some traits commonly associated with autism, such as difficulty communicating verbally or recognizing familiar faces.

So the researchers experimented with drugs that target microglia, and found that they not only prevented those social issues in adult mice — they might have reversed them.

Among boys genetically predisposed to autism, a severe childhood infection could make that diagnosis more likely.

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On Wednesday, researchers revealed the first evidence that the approach appears to be working — improving vision for at least some patients with the condition, known as Leber congenital amaurosis, or LCA, a severe form of vision impairment.

So doctors genetically modified a harmless virus to ferry the CRISPR gene editor and infused billions of the modified viruses into the retinas of Knight’s left eye and Kalberer’s right eye, as well as one eye of five other patients. The procedure was done on only one eye just in case something went wrong. The doctors hope to treat the patients’ other eye after the research is complete.

Once the CRISPR was inside the cells of the retinas, the hope was that it would cut out the genetic mutation causing the disease, restoring vision by reactivating the dormant cells.

“We’re thrilled about this,” says Dr. Eric Pierce, director of the ocular genomics institute at Massachusetts Eye & Ear and professor of ophthalmology at Harvard Medical School who’s helping run the experiment testing the approach.

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A large, UK-based study of genetics and autism spectrum disorder (ASD) has been suspended, following criticism that it failed to properly consult the autism community about the goals of the research. Concerns about the study include fears that its data could potentially be misused by other researchers seeking to ‘cure’ or eradicate ASD.

Study aimed at collecting DNA from 10,000 people with autism and their families has drawn criticism for failing to consult the autism community.

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The ZyCoV-D vaccine is also the world’s first DNA vaccine against Covid-19.

Like other vaccines, a DNA vaccine, once administered, teaches the body’s immune system to fight the real virus.

ZyCoV-D uses plasmids — or small rings of DNA that contain genetic information — to deliver the jab between two layers of the skin.

ZyCov-D is also India’s first needle-free Covid-19 jab.

It is administered with a disposable needle-free injector, which uses a narrow stream of the fluid to penetrate the skin and deliver the jab to the proper tissue.

India has given a boost to its vaccination programme by approving its first vaccine for those under 18.

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