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Artificial Intelligence (AI) is the mantra of the current era. The phrase is intoned by technologists, academicians, journalists and venture capitalists alike. As with many phrases that cross over from technical academic fields into general circulation, there is significant misunderstanding accompanying the use of the phrase. But this is not the classical case of the public not understanding the scientists — here the scientists are often as befuddled as the public. The idea that our era is somehow seeing the emergence of an intelligence in silicon that rivals our own entertains all of us — enthralling us and frightening us in equal measure. And, unfortunately, it distracts us.
There is a different narrative that one can tell about the current era. Consider the following story, which involves humans, computers, data and life-or-death decisions, but where the focus is something other than intelligence-in-silicon fantasies. When my spouse was pregnant 14 years ago, we had an ultrasound. There was a geneticist in the room, and she pointed out some white spots around the heart of the fetus. “Those are markers for Down syndrome,” she noted, “and your risk has now gone up to 1 in 20.” She further let us know that we could learn whether the fetus in fact had the genetic modification underlying Down syndrome via an amniocentesis. But amniocentesis was risky — the risk of killing the fetus during the procedure was roughly 1 in 300. Being a statistician, I determined to find out where these numbers were coming from.
Werner Syndrome and Hutchinson Gilford Progeria Syndrome are two examples of the rare genetic disorders known as progeroid syndromes that cause signs of premature aging in children and young adults. Patients with progeroid syndromes have pathologies and symptoms that are often linked to aging, including osteoporosis, cataracts, heart disease, and type II diabetes.
This aging is characterized by the gradual loss of nuclear architecture and an underlying tissue-specific genetic program, but the causes are unclear. Scientists have discovered a potential new target for treating these syndromes by preventing nuclear architecture loss.
The finding is a turning point in cancer research.
Two major studies published in Nature.
There now genetic testing of breast cancer for men and women. The mutations in BRCA1 and BRCA2 Genes will cause cancer. I think in the future though error correction in the dna code could lead to the cure using crispr.
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers. Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%–28%), suggesting other predisposition genes. The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2. Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). The largest proportion (67%) of families due to other genes was found in families with four or five cases of female breast cancer only. These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data. Among those families with disease due to BRCA1 that were tested by one of the standard screening methods, mutations were detected in the coding sequence or splice sites in an estimated 63% (95% CI 51%–77%). The estimated sensitivity was identical for direct sequencing and other techniques. The penetrance of BRCA2 was estimated by maximizing the LOD score in BRCA2-mutation families, over all possible penetrance functions. The estimated cumulative risk of breast cancer reached 28% (95% CI 9%–44%) by age 50 years and 84% (95% CI 43%–95%) by age 70 years. The corresponding ovarian cancer risks were 0.4% (95% CI 0%–1%) by age 50 years and 27% (95% CI 0%–47%) by age 70 years. The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in BRCA2 carriers.
A newly discovered type of transferable DNA
DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).
Great ape animal studies have long been prohibited in Europe due to ethical concerns. An alternative to using animals in studies is the use of so-called organoids, which are three-dimensional cell structures that can be generated in the lab and are just a few millimeters in size.
These organoids can be created using pluripotent stem cells, which then subsequently develop into particular cell types like nerve cells. The study team was able to create both chimpanzee and human brain organoids by using this method.
“These brain organoids allowed us to investigate a central question concerning ARHGAP11B,” says Wieland Huttner of the Max Planck Institute of Molecular Cell Biology and Genetics, one of the three lead authors of the study.
Just a quick vid. He mentions the hope of replacing current gene therapy with a pill or three which I heard Cynthia Kenyon say many years ago.
Dr David Sinclair talks about longevity genes, genes therapies and his works on resetting the eyes in this short clip.
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The CRISPR system, which involves a Cas enzyme to cut DNA, is a powerful tool for gene editing. But the genetic scissors sometimes make changes at the wrong place, creating a major safety problem that could limit their therapeutic use.
Now, scientists at the University of Texas (UT) at Austin have refined the Cas9 protein used in the Nobel Prize-winning CRISPR-Cas9 tool. The new version, dubbed SuperFi-Cas9, was thousands of times less likely to perform off-target editing but just as efficient at on-target editing as the original version, the team said in a paper published in Nature.
“This really could be a game-changer in terms of a wider application of the CRISPR-Cas systems in gene editing,” Kenneth Johnson, Ph.D., the study’s co-senior author, said in a statement.
