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Archive for the ‘genetics’ category: Page 108

Oct 25, 2022

Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families

Posted by in categories: biotech/medical, genetics

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.

Oct 23, 2022

Not Science Fiction: Methane-Eating “Borgs” Have Been Assimilating Earth’s Microbes

Posted by in categories: biotech/medical, genetics

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).

Oct 23, 2022

Scientists Uncover the Gene Responsible for Human’s Big Brain

Posted by in categories: biotech/medical, genetics, neuroscience

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.

Oct 23, 2022

That Our Body Has A MEMORY OF YOUTH Has Been Proved | Dr David Sinclair Interview Clips

Posted by in categories: biotech/medical, economics, genetics, life extension

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.

Continue reading “That Our Body Has A MEMORY OF YOUTH Has Been Proved | Dr David Sinclair Interview Clips” »

Oct 23, 2022

Breaths Per Minute While Asleep: What’s Optimal?

Posted by in categories: biotech/medical, genetics

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Oct 23, 2022

UT Austin scientists design safer Cas9 with improved CRISPR gene editing accuracy

Posted by in categories: bioengineering, biotech/medical, genetics

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.

Oct 22, 2022

New Research Suggests That Obesity Is a Neurodevelopmental Disorder

Posted by in categories: biotech/medical, genetics, health, neuroscience

Over the last several decades, obesity has rapidly grown to affect more than 2 billion people, making it one of the biggest contributors to poor health globally. Many individuals still have trouble losing weight despite decades of study on diet and exercise regimens. Researchers from Baylor College of Medicine and affiliated institutions now believe they understand why, and they argue that the emphasis should be shifted from treating obesity to preventing it.

The research team reports in the journal Science Advances that early-life molecular processes of brain development are likely a major determinant of obesity risk. Previous large human studies have shown that the genes most strongly associated with obesity are expressed in the developing brain. This most recent study in mice focused on epigenetic development. Epigenetics is a molecular bookmarking system that regulates whether genes are utilized or not in certain cell types.

“Decades of research in humans and animal models have shown that environmental influences during critical periods of development have a major long-term impact on health and disease,” said corresponding author Dr. Robert Waterland, professor of pediatrics-nutrition and a member of the USDA Children’s Nutrition Research Center at Baylor. “Body weight regulation is very sensitive to such ‘developmental programming,’ but exactly how this works remains unknown.”

Oct 21, 2022

Weird ‘Borg’ DNA May Have Assimilated Microbes For Billions of Years

Posted by in categories: bioengineering, biotech/medical, evolution, genetics

Strange libraries of supplementary genes nicknamed “Borg” DNA appear to supercharge the microbes that possess them, giving them an uncanny ability to metabolize materials in their environment faster than their competitors.

By learning more about the way organisms use these unusual extrachromosomal packets of information, researchers are hoping to find new ways of engineering life to take a big bite out of methane emissions.

In the wake of a study publicized last year (and now published in Nature), researchers have continued to analyze the diversity of sequences methane-munching microbes store in these unusual genetic depositaries in an effort to learn more about the evolution of life.

Oct 21, 2022

Why do colon cancer tumors grow so fast? Study identifies new gene that may play a role

Posted by in categories: biotech/medical, genetics

A newly identified colon cancer gene may drive the disease by making the environment in the vicinity of tumors more hospitable to them, researchers say. The…

Oct 21, 2022

Novel gene therapy could help children with rare genetic condition walk and talk

Posted by in categories: biotech/medical, genetics

Dr_Microbe/iStock.

Called Upstaza, the therapy not only improved the symptoms of all participants in the small-scale trial but also gave some children the ability to walk and talk for the first time.