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Tag Archives: genome
Breast cancer study: 50 women, 1700 genetic mutations
It isn’t always true for science, but it sure seems like the more we learn, the more complicated the knowledge becomes. Take breast cancer for an example. Every few months a new study is published that announces the discovery that this that or another gene is ‘linked to breast cancer.’ Likewise there is a stream [...]
Posted in Impact: Major Disease Cures Also tagged breast cancer, cancer, cancer study, DNA, Ellis, genetic mutation, MAP3K1, personalized therapy, sequencing 2 Comments
Part of what makes us human may be what’s missing
Here’s one of those scientific questions that contains a highly suggestive fact: Why is it that the tiny water flea (Daphnia pulex) has a record 31,000 genes and the human – the infinitely more complex human – has only 23,000 genes? Here’s another similar question: How is it that the human species is so different [...]
Posted in Impact: Epigenetics Also tagged biogenetics, Daphnia, DNA, epigenetics, evolution, gene, genetics, junk DNA, Kingsley, missing DNA, penis spines Leave a comment
Oh Daphnia, why so many genes?
Ms. Water flea, Daphnia pulex…..credit: Wiki Commons This equal sign, =, is about as big the known champion of the gene-filled genome. Little Daphnia pulex, variously labeled a crustacean (like shrimp) or ‘the water flea,’ is the first of its subphylum to have its genome sequenced. Lo and behold: Daphnia’s genome has more genes – [...]
Posted in Impact: DNA Decoding Also tagged cloning, copy number variation, Daphnia, DNA, Environmental Genomics, gene-pool, genetics, phenotype, water flea Leave a comment
“Gentlemen, engineer your astronauts.”
“I say let’s build better astronauts.” Craggy Windman was serious. He was standing on the dais in a slept-in Armani suit, tie undone, disheveled salt-and-pepper beard and talking to an assembly of rocket scientists. (Yes, you had to be a rocket scientist with a NASA badge to get into the room.) He stabbed his pointer [...]
Posted in Spun Also tagged gene modification, human engineering, microbiome, NASA, satire, synthetic biology, tissue engineering Leave a comment
The shape of the genome influences genetics
Fission yeast genome……Credit: Wistar Institute It looks like a loose ball of yarn, as in the picture above. In fact, it’s the genome of a common yeast (S. pombe). The human genome spends most of its time in a ball something like this. The familiar “X” shaped chromosomes occur only at the time of cell [...]
Posted in News: DNA Decoding Also tagged 3C, chromosome conformation capture, chromosomes, DNA, gene, genetics, genome shape, RNA, sequencing Leave a comment
A new field for medicine: Genetic risk intervention
If you’ve heard anything about personal genome testing, it’s that such tests can sometimes reveal people are carriers of genetic mutations that increase the risk of certain diseases. There are many examples with more added each year, such as the BRCA1/BRCA2 genes associated with breast and ovarian cancer. If you’re a woman whose genome has [...]
Posted in Impact: Major Disease Cures Also tagged BRCA1, BRCA2, gene, mastectomy, molecular biology, personal genetics, prophylactic medicine, risk intervention 1 Comment
Promised cures that stay on the horizon
In this age of hyperbole and disingenuous narrative, it’s important to have keen and skeptical appraisal. This is true even (or especially) when it comes to life-saving cures and the promises of the end to various terrible afflictions. Part of the reason for skepticism is simply to manage expectations. The people developing or marketing their [...]
Posted in Impact: Major Disease Cures Also tagged Alzheimers, disease cure, drugs, medical breakthrough, medical promises, miracle cure, molecular biology, Parkinsons Leave a comment
A form of muscular dystrophy depends on ‘junk’ DNA
Back in February of this year (2010) a study in Nature reported on finding a segment of human DNA, one of the areas in the so-called ‘junk genes,’ that contributed to a form of coronary artery disease. [SciTechStory: Junk DNA that actually does something] Now there is another study, in the magazine Science [A Unifying [...]
Posted in Impact: DNA Decoding Also tagged chromosome 4, FSHD, gene, genetics, junk DNA, muscular dystrophy, RNA, transcription Leave a comment
Transposons and the dynamic genome
Most people know that DNA can mutate – genetic sequences can be altered and carried on by reproduction. Less well known is that DNA also changes, in a sense mutates, during the life cycle of a normal cell – with or without reproduction. There are sequences of DNA that can move about to different positions [...]
Posted in News: DNA Decoding Also tagged DNA, genetic insertion, heredity, jumping genes, mutation, transposon Leave a comment
Update: Research on ‘old-age genes’ challenged
Thesis, antithesis, synthesis – is a primary pathway of science. Researchers trot out a hypothesis (hopefully backed up with evidence). Other researchers challenge the hypothesis, often through their own research results. Eventually the original hypothesis is confirmed, rejected, or in some way modified. Science moves on. The process may start with scientists presenting a research [...]
Posted in News: DNA Decoding Also tagged DNA, genetic variance, genetics, gerontology, GWAS, old-age genes, SNPs Leave a comment
New for epigenetics: Active pseudogenes and RNA as gene regulator
How is it that the human genome, with about 23,000 protein coding genes, can produce such a complicated organism as the human being, when the laboratory flatworm (C. elegans, a relatively simple organism) has about 20,000 coding genes? It seems fairly obvious that there must be something else at work in more complex organisms that [...]
Posted in Impact: Cell Biology Also tagged cancer, cell biology, ceRNA, DNA, epigenetics, microRNA, molecular biology, mRNA, proteins, pseudogene, PTEN, PTENP1, RNA Leave a comment
The Human Genome Project: Ten years later
Ten year retrospectives are a popular form of gazing at near history. So it is with looking at the results of the first complete sequencing of the human genome (first draft released June 26, 2000). The Human Genome Project was a three billion dollar multi-year program that finally achieved the long sought genome-wide catalog of [...]
Posted in Impact: DNA Decoding Also tagged DNA, genetics, GWAS, Human Genome Project, major disease cures, medicine, RNA, SNP Leave a comment
Synthetic life, as developed by Craig Venter et al
May 21, 2010: This is one of those days when one story is likely to dominate the science news. It will also be writ large in the world’s news. Craig Venter, the name has to come first, and his research team has claimed creation of the first synthetic life. It should also be a good [...]
Posted in Impact: Synthetic Biology Also tagged artificial life, DNA, DNA transplant, genetics, microbiology, Splice, synthetic biology, synthetic life, Venter Leave a comment
Fascinating: Many of us have genes from Neanderthals
One way or another many human beings carry a percentage of their DNA inherited from Neanderthal man. This has been suspected for some time (not only in comedy routines); now there is genetic data to back it up. An international team of scientists coordinated at the Max Planck Institute of Evolutionary Anthropology (Leipzig, Germany) and [...]
Posted in Impact: DNA Decoding Also tagged DNA, epigenetics, gene expression, genes, genome sequencing, Homo neanderthalensis, homo sapiens, modern man, Neandertal, Neanderthal Comments closed
The growing GWAS controversy
There’s nothing like ignorance to fuel a controversy, even if it’s scientific ignorance. A controversy is brewing over the idea of personalized medicine based on the analysis of an individual’s genome through genome-wide association studies, or GWAS. Enabled by the ever decreasing cost of analyzing the human genome, some scientists believe it is possible to [...]
Posted in Impact: DNA Decoding Also tagged BRCA1, DNA, gene, genetics, genome-wide association studies, GWAS, molecular genetics, mutation, personalized medicine Comments closed
Surprise verdict in U.S. gene patent case
Most people think they own their DNA – “My genes, my body.” Well of course you do. Except when it comes to analyzing those genes. Right now companies own patents on about 2,000 of your genes. Typically they make equipment and/or procedures to analyze them. So far, this is legal in the United States, which [...]
Posted in Impact: DNA Decoding Also tagged BRCA1, BRCA2, cancer, DNA, gene diagnostic, Myriad Genetics, patent law, product of nature, U.S. Patent and Trademark Office, USPTO Leave a comment
Clinical genetics: Two cases
The prospect of being able to identify genetic problems in the genome of an individual and then link that to a specific disease or disability – that’s been on scientists’ minds for a long time. Since the completion of the Human Genome Project in 2003 the prospects have become even better. The sequencing technology is [...]
Posted in Impact: DNA Decoding Also tagged Charcot-Marie-Tooth, chromosome, DNA, fMRI, Human Genome Project, Miller Syndrome, mutation, sequencing Leave a comment
Can culture change the genome?
Almost from the beginning of our knowledge of genetics, it’s been asked, “Can the way we (humans) live change our genetics?” These days this is much the same as asking if culture can change the genome. It’s actually a relatively old question. The question got its biggest boost from one who is now a boogeyman [...]
Posted in Impact: Genetic Modification Also tagged biology, culture, DNA, EDAR, epigenetics, evolution, genes, genetic modification, genetics, Lamarck, molecular biology, RNA 1 Comment
Waking the dead
Waking the dead. This was the actual title of a press release from the University of Copenhagen (Denmark). What will the media of scientific weirdness make of this (not to mention the tabloids)? They’d make nothing of it; if they actually read the release. “Waking the dead” is a fanciful notion, something like a poet [...]
New study: Genetic variations associated with aging
Sometimes the shortest distance to new knowledge is a lot of repetitious work – like analyzing 500,000 genetic variations across the entire human genome. Researchers at King’s College London (UK), Leicester University (UK), and the University of Groningen (Netherlands) were on the trail of locating genes associated with aging. This is part of the (perhaps) [...]
Posted in News: Extending Lifespan Also tagged aging, chromosomes, DNA, genetic, gerontology, telomere, TERC Leave a comment
Stem cell epigenomic development mapped
Completing the map of the human genome, back in 2000 and 2003, was a monumental task and a milestone on the road to understanding our genetics. Here’s another milestone: A map that shows in detail how the human genome is modified during embryonic development. Just completed and published by a team of researchers from the [...]
Posted in News: Stem Cells Also tagged DNA methylation, genetics, genome map, methyl, mRNA, pluripotent, stem cells Leave a comment
Brain cancer genome sequenced
The cost of sequencing a human genome has come down, way down; and the value of doing it is going up. Here’s a very good example: scientists at the University of California Los Angeles (USA) recently completed the sequencing of the DNA from a type of brain cancer cell line, a glioblastoma known as U87. [...]
Posted in News: Major Disease Cure Also tagged brain, cancer, DNA, GBM, genetic, glioblastoma, U87 Leave a comment
Common diseases: Rare gene mutations are important
Recall seeing a headline like this: “Gene discovered that causes cancer”? Over the past decade or so such headlines have been frequent. The advent of genome-wide association studies (GWAS), looking through the whole human genome to find variant genes, has uncovered literally thousands of relationships between common gene mutations and various forms of cancer and [...]
Posted in News: DNA Decoding Also tagged bioinformatics, DNA, genetics, GWAS, mutations Leave a comment

Human genetics: The mysterious unequal mutation by sex