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Written by bioXplorer
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The Ph.D. Illustrated
I started my Ph.D. in clinical genomics last year and sometimes it really feels like what is shown in this figure. Click HERE for the full series of pictures.
*This blog post was originally published at ScienceRoll* (Source: Better Health)
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Pharmalot… Pharmalittle… The Weekend Nears
And so yet another work week will soon draw to a close. And not a moment too soon, yes? This means, of course, the time is drawing near to catch up on sleep, sundry chores and spending time with some of the short people. What about you? Planning a trip to the beach or a big night out? Maybe read a book (or is that called a Kindle these days?) Whatever you do, have a great time and be safe. Catch you soon…
Gene Testing May Have Saved Obesity Drug (Reuters)
Sharing Data Leads To Progress On Alzheimer’s (The New York Times)
Are You Ready For A World Without Antibiotics? (The Guardian)
FDA Warns Glaxo’s Lamictal May Cause Meningitis (Associated Press)
Roche Faces New Type Of Patent Lawsuit (Indianapolis Business Journal) (Source: Pharmalot)
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Lack of neutrality in bacteria and where pseudogenes go when they die
Pseudogenes, which are in essence regions of the genome that used to be genes but no longer able to produce a functional unit, have long been considered to be models of the genetic equivalent of Switzerland's neutrality. With this assumption of neutrality in hand, researchers have used studies of pseudogenes to better understand what happens to DNA when it is not visible to any form of natural selection. That is, pseudogenes have been thought to be neither harmful (as in, they are not under negative selection) or helpful (i.e., they are not under positive selection).And from this assumption we have supposedly learned about mutation rates and patterns (because if they are neutral then the changes in pseudogenes should be reflective of mutational processes, not selection) as well as all sort...
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Human genome project oversold? sure but lets not undersell basic science
Well, the piling on the human genome project continues, it seems at an accelerating pace. I think most of this comes from the fact that we are in the range of the 10 year anniversary right now. Here are some examples of recent stories suggesting the human genome project (or projects, if you count the public effort and Craig Venter's effort as separate) have had little benefit:
7/31/10: The Human Genome Project: 10 Years Later, Progress but Still a Puzzle - WNYC. Interesting piece by Sarah Kate Kramer discussing the limited clinical value of the HGP. Includes some criticisms of personalized genomic medicine.
7/29/10: Spiegel interview with Craig Venter with the headline "We have learned nothing from the genome". Has lots of interesting tidbits. ...
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Testing, testing - why we need more testing like this in genomic informatics & annotation methods
Just got an announcement regarding this challenge:
Automated Function Prediction SIG 2011 featuring the CAFA Challenge: Critical Assessment of Function Annotations | Automated Function Prediction 2011 July 15-16 2011, Vienna, Austria
Here is a description:
CAFA is a community-driven effort. We call upon computational function prediction groups to predict the function of a set of proteins whose true function is sequestered. At the meeting, we will reveal the functions, and discuss the predictions. The CAFA challenge goals are to foster a discussion between annotators, predictors and experimentalists about methodology as quality of functional predictions, as well as the methodology of assessing those predictions. Registration for CAFA starts July 15, 2010 and the CAFA challenge will t...
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Viral Sequences in Plant Genomes
Endogenous Viral Sequences in Plant Genomesfrom Pierre-Yves Teycheney and Andrew D.W. Geering writing in Recent Advances in Plant VirologyEndogenous viral sequences from members of two virus families, the Caulimoviridae and Geminiviridae, have been discovered in several monocotyledonous and dicotyledonous plant species. For the most part, these sequences are replication-defective but those capable of causing infection have been discovered in tobacco (Nicotiana edwardsonii), petunia (Petunia hybrida) and banana and plantain (Musa spp.). Activation of endogenous caulimovirid sequences is one of the major impediments to international banana and plantain breeding efforts. Research on endogenous viral sequences in plants is still in its infancy, with little known about the contributions of thes...
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Human Collagen Production from Tobacco Plants
© minnemomResearchers have succeeded in producing a replica of human collagen from tobacco plants, possibly making the production of commercially produced collagen for use in surgical implants and many wound healing devices in regenerative medicine. Currently, commercial collagen is produced from farm animals such as cows and pigs as well as from human cadavers and are thus prone to harbor human pathogens such as viruses or prions and, in the case of human cadavers, may possesses serious ethical issues.
Producing human recombinant type I ... (Source: The Biotech Weblog)
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Serogroup B Meningococcus Vaccine
The First Vaccine Obtained Through Reverse Vaccinology: The Serogroup B Meningococcus Vaccinefrom Jeannette Adu-Bobie, Beatrice Aricò, Marzia M. Giuliani and Davide Serruto writing in Vaccine Design: Innovative Approaches and Novel StrategiesNeisseria meningitidis was isolated over one hundred years when Anton Weicshelbaum identified the causative agent of cerebrospinal meningitis. Since its isolation in 1887, N. meningitidis has been recognized to cause endemic cases, case clusters, epidemics and pandemics of meningitis and devastating septicaemia. Despite over one century since its discovery, scientists have yet to identify a universal vaccine for this deadly bacterium. Although vaccines exist for several serogroups of pathogenic N. meningitidis, serotype B (MenB) has eluded scien...
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23andme – yes, me – part 3
Results!
The email is titled “Your Genetic Profile is Ready at 23andMe!” It arrived on June 21, a shade under 5 weeks after sample arrival and well ahead of the estimated 6-8 weeks. This is what we’ve been waiting for.
OverviewWelcome to me!On logging in to the 23andMe website, you’re presented with a news feed which confirms that your results are ready. To the left is a navigation menu divided into 4 main sections: My Health, My Ancestry, Sharing & Community and 23andWe. The first 3 are the most relevant with regard to your genomic data.
My Health
The Health menu has 5 sub-menus: Disease Risk, Carrier Status, Drug Response, Traits and Health Labs.
Disease Risk
Marker EffectsClicking on “Disease Risk” presents 3 summary tables for elevated, decrease...
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Vitamin D Deficiency Due To Genetic Variants
If you are low in vitamin D it might be due to your genes. An international research consortium has identified four common gene variants that are associated with blood levels of vitamin D and with an increased risk of vitamin D deficiency. The report from the SUNLIGHT consortium – involving investigators from six countries – will appear in The Lancet and is receiving early online release. "We identified four common variants that contributed to the risk for vitamin D deficiency," says Thomas Wang, MD, of the Massachusetts General Hospital (MGH) Heart Center, a co-corresponding author of the Lancet report. "Individuals inheriting several of these risk-associated variants had more than twice the risk of vitamin D deficiency as was seen in... (Source: FuturePundit)
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Consumers Have Concerns About Home Genetic Tests
One-half of people using direct-to-consumer (DTC) personal genetic risk tests express concerns about testing-yet more than 80 percent want to know their risk even for non-preventable genetic diseases, according to a study in the September Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG)...
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Explaining An Important Genetic Cardiovascular Risk Factor
New findings reported in the September issue of Cell Metabolism, a Cell Press publication, appear to explain why people who carry specific and common versions of a single gene are more likely to have high cholesterol and to suffer a heart attack. Studies in mice show that the gene, known as sortilin (SORT1), controls the release of LDL (a.k.a...
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To Reach, Perchance To Kill The Cancer: A Soliloquy From Epeius Nanotechnologies Opposes That 'Sea Of Troubles'
Epeius Biotechnologies Corporation, a leader in the emerging field of targeted genetic medicine, reports the publication of a landmark paper in clinical oncology. Following up on its advanced U.S...
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St. Jude Researcher Receives Grant To Focus On Cancer Pharmacogenomics In Children
With its new expansion of the Pharmacogenomics Research Network (PGRN), the National Institutes of Health (NIH) awarded St. Jude Children's Research Hospital a prestigious grant to focus on anticancer agent research in children. The five-year, $8.6 million grant is titled "PAAR4Kids Pharmacogenomics of Anticancer Agents Research in Children." "We've been part of the PGRN for 10 years...
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Sequencing Of First Irish Genome
The first entire genome of an Irish individual has been sequenced. The sequence is reported in BioMed Central's open access journal, Genome Biology and provides insight into the evolutionary history of this distinct lineage...
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Scientists Create New Process To 'Program' Cancer Cell Death
Researchers at the California Institute of Technology (Caltech) have engineered a fundamentally new approach to killing cancer cells...
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Universal Screening Of Newborns For Congenital Adrenal Hyperplasia Recommended
Today, The Endocrine Society released a new clinical practice guideline on the diagnosis and treatment of congenital adrenal hyperplasia (CAH). The guideline features a series of evidence-based clinical recommendations developed by an expert task force...
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Epitwin: Largest Ever Epigenetics Project Launched
One of the most ambitious large-scale projects in Human Genetics has been launched: Epitwin will capture the subtle epigenetic signatures that mark the differences between 5,000 twins on a scale and depth never before attempted, providing key therapeutic targets for the development of drug treatments...
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The Role Of CEP290 In Maintaining Ciliary Function Defined By Researchers
A new study in the September 6 issue of the Journal of Cell Biology helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases. Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death...
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New Treatment Activates Death Program In Cancer Cells
Cancer is a difficult disease to treat because it's a personal disease. Each case is unique and based on a combination of environmental and genetic factors. Conventional chemotherapy employs treatment with one or more drugs, assuming that these medicines are able to both "diagnose" and "treat" the affected cells...
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