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Category: genetics – Page 143

A study led by researchers at Sanford Burnham Prebys has found that in young women, certain genetic mutations are associated with treatment-resistant breast cancer. These mutations are not linked to treatment-resistant breast cancer in older women. The findings, published in the journal Science Advances, could help improve precision medicine and suggest a brand-new way of classifying breast cancer.

“It’s well established that as you get older, you’re more likely to develop cancer. But we’re finding that this may not be true for all cancers depending on a person’s genetic makeup,” says senior author Svasti Haricharan, Ph.D., an assistant professor at Sanford Burnham Prebys. “There may be completely different mechanisms driving cancer in younger and older people, which requires adjusting our view of aging and cancer.”

The research primarily focused on ER+/HER2-, which is one of the most common forms of the disease. It is usually treated with hormonal therapies, but for some patients, these treatments don’t work. About 20% of tumors resist treatment from the very beginning, and up to 40% develop resistance over time.

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Is the Executive Director of the Innovative Genomics Institute (https://innovativegenomics.org/people/brad-ringeisen/), an organization founded by Nobel Prize winner Dr. Jennifer Doudna, on the University of California, Berkeley campus, whose mission is to bridge revolutionary gene editing tool development to affordable and accessible solutions in human health and climate.

Dr. Ringeisen is a physical chemist with a Ph.D. from the University of Wisconsin-Madison, a Bachelor of Science in chemistry from Wake Forest University, a pioneer in the field of live cell printing, and an experienced administrator of scientific research and product development.

Before joining the IGI, Dr. Ringeisen was Director of the Biological Technologies Office at DARPA, where he managed a division working at the cutting edges of biology, physical sciences and engineering. Programs in his office included research in genome editing, epigenetics, neurotechnology, food security and biomanufacturing, as well as diagnostics and therapeutics development.

Prior to DARPA, Dr. Ringeisen ran his own research group at the U.S. Naval Research Laboratory as the head of the Bioenergy and Biofabrication Section where he oversaw diverse research programs including the development and application of laser-assisted printing approaches to biology, development of organs-on-a-chip, microbial energy harvesting and extracellular electron transfer as well as microbial discovery and microbiome characterization.

Continue reading “Dr. Brad Ringeisen, Ph.D. — Executive Director, Innovative Genomics Institute (IGI)” | >

Ancient genomes can inform our understanding of the history of human adaptation through the direct tracking of changes in genetic variant frequency across different geographical locations and time periods. The authors review recent ancient DNA analyses of human, archaic hominin, pathogen, and domesticated animal and plant genomes, as well as the insights gained regarding past human evolution and behaviour.

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Continue reading “ApoB: Is Lower Always Better?” | >

I’d place Sigmund et al. as one of my favorite papers that I have read this year! They leverage protein engineering to create genetically encoded nanocages which accumulate metals and appear as concentric circles when imaged by electron microscopy. Six classes of distinct “EMcapsulins” could be differentiated by training a machine learning model (a convolutional neural network) to recognize and classify them within images. Fusion of fluorescent protein domains to the EMcapsulins also allowed correlative imaging between fluorescence microscopy and electron microscopy. The authors demonstrated 3D imaging of EMcapsulins via serial section transmission electron microscopy and focused ion beam… More.

Multiplexable barcodes for electron microscopy are applied to brain imaging.

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Year 2022 😗😁

Summary: A rare genetic mutation that causes blindness also appears to be associated with above-average intelligence, a new study reports.

Source: University of Leipzig

Synapses are the contact points in the brain via which nerve cells ‘talk’ to each other. Disturbances in this communication lead to diseases of the nervous system, since altered synaptic proteins, for example, can impair this complex molecular mechanism. This can result in mild symptoms, but also very severe disabilities in those affected.

Continue reading “How a Gene Mutation Causes Higher Intelligence” | >

The first gene therapy that can treat Duchenne muscular dystrophy (DMD) has been approved by the U.S. Food and Drug Administration; it will be marketed as Elevidys (delandistrogene moxeparvovec-rokl) by Sarepta Therapeutics Inc. Children aged four to five with the disorder and confirmed gene mutations will be eligible to receive the one-time treatment if insurers approve, as the cost is $3.2 million per patient.

DMD is caused by mutations in a gene called dystrophin, which results in a serious lack of functional dystrophin protein. The gene therapy works by sending a gene that can produce a shortened version of the dystrophin protein to patients; the company has termed it Elevidys micro-dystrophin.

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Cardiovascular disease (CVD) is the leading cause of death worldwide and considered one of the most environmentally driven diseases. The role of DNA methylation in response to the individual exposure for the development and progression of CVD is still poorly understood and a synthesis of the evidence is lacking.

A systematic review of articles examining measurements of DNA cytosine methylation in CVD was conducted in accordance with PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines. The search yielded 5,563 articles from PubMed and CENTRAL databases. From 99 studies with a total of 87,827 individuals eligible for analysis, a database was created combining all CpG-, gene-and study-related information. It contains 74,580 unique CpG sites, of which 1,452 CpG sites were mentioned in ≥ 2, and 441 CpG sites in ≥ 3 publications. Two sites were referenced in ≥ 6 publications: cg01656216 (near ZNF438) related to vascular disease and epigenetic age, and cg03636183 (near F2RL3) related to coronary heart disease, myocardial infarction, smoking and air pollution. Of 19,127 mapped genes, 5,807 were reported in ≥ 2 studies.

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The technology could eventually revolutionize health care. We’ve seen CRISPR start to be used experimentally to treat children with cancer, for example. It is being explored for lots of genetic diseases. And last year, a company used CRISPR to try to treat a woman with dangerously high cholesterol.

But CRISPR could also transform farming, including aquaculture. This week, I wrote about researchers who inserted an alligator gene into catfish. The idea isn’t to make these fish more alligator-like, but to make them more resistant to disease. It turns out that alligators have a particular talent for fighting off infections.

These gene-edited fish, pigs, and other animals could soon be on the menu.

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Busso also said we don’t yet know the long-term effects of these treatments on normal cells or what the long-term impact of killing zombie cells might be. Additionally, because zombie cells play an important role in wound healing, “We don’t want to remove all of them,” he said. “We don’t know the ideal regimen, daily versus weekly versus monthly.”

Hopefully, we won’t have to wait long for answers about the best way to get rid of zombie cells on the skin. “Major breakthroughs and contributions to delaying of the aging process are expected in the near future,” Busso said.

Although it’s still unclear whether zombie cells can be safely and effectively cleared from the skin, it is possible to prevent some zombie cells from forming in the first place. Collins explained that zombie cells are formed as the result of both biological and environmental factors. “The internal factors, like aging or genetic disease, are not so much within our control,” but the external factors can be controlled, she said.

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