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Category Archives: Transhuman News
India: Genetic Engineering, the Commercialization of GM Mustard and the Future of Agriculture – Center for Research on Globalization
Posted: May 17, 2017 at 1:27 am
The environment ministry in India will make the final call after the Genetic Engineering Appraisal Committee recently gave a positive recommendation for the commercial cultivation of GM mustard. Whether the crop is commercially cultivated could depend on the Supreme Court, which is hearing a case seeking a moratorium on its commercial release. The government has stated it will abide by the courts decision (although that remains to be seen and some question the courts impartiality). The final hearing will probably take place in July. The casebefore the Supreme Court was brought by Aruna Rodrigues who accuses various officials and the regulatory authorities of unremitting fraud and regulatory delinquency.
The importance of GM mustard should not be underestimated. It is central to the whole debate about the future of agriculture in India and the wider development paradigm. GM mustard is a Trojan horse that would help pave the way for ripping up the economic and social fabric of India and recast for the benefit of powerful Western corporations, not least Bayer-Monsanto (seeGM Mustard in Indiato read my numerous articles on this issue).
GM mustard is being promoted on the basis of the lie that it will increase yield. However, the government itself admits theres no evidence that it will do so.In aletterto Anil Dave, Indias environment minister, presented below, advocate Prashant Bhushan says that conclusions were drawn and disseminated to mean that GM Mustard DMH 11 is a superior hybrid-making technology that will out-yield Indias best non-GMO hybrids and varieties. But he adds that non-GMO hybrids and varieties out-yield HT DMH 11 hands down.
Bhushan reminds the Indian government that it has admitted that there is no evidence that GM mustard out-yields non-GM. In an affidavit to the Supreme Court, the government stated,
No such claim has been made in any of the submitted documents that DMH 11 out-performs Non-GMO hybrids.
ANNEX
Resi. Office. Chamber
B-16,Sector-14,Noida C-67, Sector-14, Noida 301, New Lawyers Chamber
Dist. Gautam BudhNagar Dist. Gautam BudhNagar SupremeCourt Of India
(U.P.) 201 301 (U.P.) 201 301, fax: 0120-4512694 New Delhi
Ph : 0120-2512632, 2512693 Ph: 0120-2512523, 2512695 Ph: 011- 23070301,23070645.
Dated: May 13, 2017
Shri Anil DaveThe Honble Minister of MoEF and Climate Change Paryavaran Bhavan Lodhi Road New Delhi
COMMERCIAL APPROVAL BY THE GEAC OF HT MUSTARD HYBRID DMH 11ON 11 MAY 2017
Dear Shri Dave
I express a deep disquiet and anxiety at the opaque and unscientific regulatory oversight of this GM mustard, which is also an herbicide tolerant (GM) crop. It has resulted yesterday, in its undoubtedly flawed approval for Commercialisation by the GEAC. I write to request you to please withhold your approval of such a move on three grounds.
The firstis that the CJ, based on the assurance given by the AG Mukul Rohatgi that the Union of India will not release DMH 11without the prior approval of the Supreme Court,accordingly, gave a verbal Order of an interim injunction till the case is heard comprehensively and the issue of HT mustard in substance. This was widely reported in the newspapers, two examples of which are referenced ().
The secondis the grave matter of the independence, surety and rigourof the oversight of the biosafety of HT Mustard DMH 11, which is critical for Indias agriculture in mustard, its food safety (both as a vegetable and seed oil), and furthermore, and of outstanding importance, the certain contamination that will occur of Indias mustard germplasm. These matters are of course, of central concern to your Ministrys regulating function and mandate for India.
The thirdis the requirement and my personal plea to you, to take note of the lessons of history of GMO regulation in India, embedded as it is in the most serious conflicts of interest and lack of expertise, where regulation has become farcical. For this reason,self-assessed safety dossiersby crop developers are kept secret by our Regulators and governing Ministries. Four official reports attest to the prevailing, utterly dismal state of regulation.
May any government treat its citizens with such willful disregard, despite Constitutional provisions?
The Bt brinjal Biosafety-Dossier remained unpublished for 16 months despite a SC order, but eventually, the Regulators had to comply with its full publication (with the raw data), which then revealed its fraudulence when examined and appraised by independent scientists of international stature. Studies said to be done were not done, as many as 36 of 37 environmental studies, leaving aside other risk assessment protocols. The moratorium which followed was also in large part influenced by the fact thatIndia is the worlds Centre of brinjal diversitywith 2500 varieties and wild species, which would certainly be contaminated. This is what the 37thPSC of 2012 (on GMOs) had to say on Bt brinjal and regulation. I quote very briefly. I would urge you to read the full recommendations of just 3 pages:
-Convinced that these developments are not merely slippages due to oversight or human error but indicative of collusion of a worst kind,they have recommended a THOROUGH PROBE INTO THE BT. BRINJALmatter from the beginning up to the imposing of moratorium on its commercialization by the then Minister of Environment and Forests (I/C) on 9 February, 2010 by a team of independent scientists and environmentalists.(Recommendation Para No. 2.79).
The Committee after critically analyzingthe evidence the gross inadequacy of the regulatory mechanism, the absence of chronic toxicology studies and long term environment impact assessment of transgenic agricultural crops; the virtual non-existent nature of the oversight bodies like National Biodiversity Authority, Protection of Plant Varieties and Farmers Right Authority, Food Safety and Standards Authority of India, etc., recommended that till all the concerns voiced in their Report are fully addressed -, to put in place all regulatory, monitoring, oversight, surveillance and other structures,further research and development on transgenics in agricultural crops should only be done in strict containment and FIELD TRIALS UNDER ANY GARB SHOULD BE DISCONTINUED FORTHWITH.(Recommendation Para Nos. 8.116, 8.121 & 8.125)
Noting with concern the grossly inadequate and antiquated regulatory mechanism for assessment and approval of transgenics in food crops; the serious conflict of interest of various stakeholders involved in the regulatory mechanism; the total lack of post commercialization, monitoring and surveillance, the Committee have felt thatin such a situation what the Country needs is not a bio-technology regulatory legislationbut anall-encompassing umbrella legislation on bio-safety-The Committee have also cautioned the Government that in their tearing hurry to open the economy to private prospectors, they should NOT MAKE THE SAME FATE BEFALL ON THE AGRICULTURE SECTOR, as has happened to the communications, pharma, mineral wealth and several other sectors in which the Governmentsfacilitative benevolence preceded setting up of sufficient checks and balances and regulatory mechanisms,thereby, leading to colossal, unfettered loot and plunder of national wealth in some form or the other, incalculable damage to environment, bio-diversity, flora and fauna and unimaginable suffering to the common man.(Recommendation Para No. 3.47 & 3.48)
But till date, the GM mustard dossier remains unpublished in willful Contempt of Court. Prof Pental is the Chair of the DBTs Agricultural Biotechnology Task Force. SR Rao, Member GEAC is over-all in-charge of the DBTs Agri Biotech programmes.The DBT also funds Pentals GM mustard.
Does anything more need to be said to underscore the implications of thiscosyarrangement of partnership in the Regulatory oversight of HT mustard DMH 11 and GMOs in general?
Data that has leaked around the edges demonstrate that we have ample reason to be greatly concerned of gross cover-up and misconduct. Furthermore, this HT mustard DMH 11 and its two HT variants are doubly barred by the unanimous 5-member TEC recommendations: ie this is an HT crop and a crop in a Centre of genetic diversity.
The further contents of this letter below, make clear in the simplest possible way, from, and it has to be said, curious admissions of your Apex Regulator and the Union of India in their Reply Affidavit submitted to the SC, which effectively demolish wholesale, any sound basis for the release of HT DMH 11 for commercial cultivation. I make 3 short points, to alert you to the veracity of this statement, as you will not be briefed correctly on these matters by your Regulators and indeed by the Ministries of S & T and Agriculture, both of which promote HT DMH 11 and even fund it (DBT) as stated above:
(a) HT hybrid mustard DMH 11 has failed the first criteria of a test risk protocol of a GM crop:Is the GM Crop required in the first place?The answer inNobased on the admission of the Union of India itself in their Reply Affidavit in the SC.They said:
No such claim has been made in any of the submitted documents that DMH 11 out-performs Non-GMO hybrids. The comparison has only been made between hybrid DMH 11, NC (national Check) Varuna and the appropriate ZC (zonal checks) MSY of 2670 Kg/ha has been recorded over three years of BRL trials which is 28% and 37% more than the NC & ZC respectively (At 88, pg.56).
Unfortunately, the whole truth uncovered, is that no valid comparators were used and the field trials themselves stand voided on the basis of serious anomalies and violations in field testing, inconclusive results and even statistical fraud.Yet, conclusions were drawn and disseminated to mean that DMH 11 is a superiorhybrid-making technologythat will out-yield Indias best Non-GMO hybrids and varieties. The fact is, Non-GMO hybrids and varieties out-yield HT DMH 11 hands down.
(b) We know, based on the AGs assertion in Court that the Union of India holds that this GM mustard will displace imported edible oil-seeds in a significant way (reduce our oilseeds bill). However, such an assertion in the light of the above submission is to say the least ludicrous, entirely lacking any semblance of logic. Moreover, the nearest equivalent to Indian mustard (Brassica juncea) is rape-seed oil (Canola), imported from Canada (which is essentially GMO) and represents just 2% of Indias edible oil imports! Rs 68,000 Cr is the total import oil-seeds bill,not Canolaalone, as the AG mistakenly stated in Court. Can this be the basis for the Commercialisation of HT mustard DMH 11?
It gets murkier still when the U of I also admits that:
Heterosis is due to the careful selection of parents and not due to the three transgenes The developers have nowhere claimed that the yield increase is due to the three transgenes(At 65, page 45)
This is exactly the issue that there is no trait for yield in HT DMH 11. It is good indeed that on this point we are all in agreement. Yet, somehow, the opposite story prevails, the story to the media, and the PMO. The stand of the Niti Aayog is particularly curious in that their National Agri policy requires GMOs in agriculture to meet Indias food security as they are better yielding! Where in this statement is the basic science governing the trait for yield in GMOs and Mustard in particular? It is very troubling that the Niti Aayog has failed to do some basichomework.
(c) Therefore, we draw the conclusion that the stated regulatory intent is toderegulate HT DMH 11 as a policy agenda based on no science,and to convert Indias mustard agriculture, in a massive and dangerous experiment, to (GM) HThybridmustard, (variants of DMH 11). Imagine our consternation when your Regulator admitted to precisely this:
Once the GE mustard events Varuna bn 3.6 and EH2 modbs 2.99 are approved and deregulated, these would be immediately used by the National net-work programme Once a robust pollination control mechanism is in place,yield of hybrids can be further improved by breeding betterparental lines(at 63, pg. 43).
The statement is pure spin, dissimulation. Unless deconstructed, it conveys that HT Hybrid DMH11 is a superior hybrid-making technology (which it is not); that will (alone) provide 25 to 30% higher yield and even better, (not true, as admitted), because on the contrary, Indias best Non-GMO hybrids and varieties are already significantly outperforming HT DMH 11. Unfortunately and regrettably, the plain truth is that decades of good work already being done by our agri institutions and the DRMRin Non-GM hybrid technology and superior-yielding varieties will be laid waste in this dangerous plan for the country via HT Hybrid DMH 11 and its variants.
AND OUR GERMPLASM WILL BE THOROUGHLY CONTAMINATED AND IN A CENTRE OF MUSTARD DIVERSITY.
India is a centre of diversity in mustard with9720 Accessionsin our gene banks(The NBPGR). With a commercialised GM crop, contamination of non-GMO is certain. That is the evidence.
In closing, Id like to emphasise that GMO contamination is neither remediable nor reversible and is the outstanding concern. The genes in HT hybrid DMH 11 are toxic genes: being an HT crop also means that DMH 11 is a pesticidal crop. Its nationality doesnt change the science. It stays this way whether foreign or Indian! How do we get carried away on such a band-wagon?
The issue also is that with GMO contamination, our mustard will be changed at the molecular level. Any toxicity that there is will remain in perpetuity. Are we prepared to be the agents for such monumental risk and put India and its people in jeopardy without any recourse and remedy?
For these reasons among others, and there are decidedly others, I would urge you on behalf of our Nation not to endorse this outrageous and anti-national approval, but reject it in the public interest. You will be doing India a noble service in posterity.
Thank you, Yours sincerely,
Signed/
Prashant Bhushan
* * *
Notes
LiveLaw News Network: No GM Mustard Without SC Approval October 24, 2016;
Directorate of Rape-Seed Mustard
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India: Genetic Engineering, the Commercialization of GM Mustard and the Future of Agriculture - Center for Research on Globalization
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Synthego’s genetic toolkit aims to make CRISPR more accessible – TechCrunch
Posted: at 1:27 am
TechCrunch | Synthego's genetic toolkit aims to make CRISPR more accessible TechCrunch 80 percent of users getting into CRISPR have never done genetic engineering at all. So we simplified the process, said Synthego founder Paul Dabrowski on stage at Disrupt today. It's a beautiful interface but there's a lot of heavy lifting in the ... Synthego aims to simplify CRISPR editing for genetic researchers |
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Synthego's genetic toolkit aims to make CRISPR more accessible - TechCrunch
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Cut Out the Hype: Gene Editing With CRISPR and the Truth about Superhuman ‘Designer Babies’ – WhatIsEpigenetics.com (blog)
Posted: at 1:27 am
Stories about a mysterious tool that can cut out and replace genes have crept out from behind the lab walls and entered boldly into the public spotlight. Nowadays, CRISPR is everywhere. And we cant help but let our imaginations wander, especially when the questions posed by this novel gene editing technology come straight out of a sci-fi movie.
Can we edit out bad genes that cause diseases in humans and replace them with healthy ones? Might parents be able to design babies to their liking, with a certain hair or eye color, personality, or intelligence level? Could we engineer animals so they cant pass on deadly diseases to us? Can we even add or remove epigenetic marks on genes of our choice to control the expression of lifes code and, perhaps, our very behavior?
The precise power of the CRISPR-Cas9 system has created exciting yet controversial opportunities for genetic and epigenetic editing. Although we certainly dont have all the answers, the intriguing questions require further exploration and a deeper look into the near and distant possibilities for our society. As endless as the opportunities may appear to scientists and laypeople alike, some are more realistic than others. Its crucial we trim the hype from the realistic capabilities of CRISPR, as we usher in what some may call the golden age of genetic engineering.
The start of CRISPR
You know when you pick up a suspense novel, and read the first chapter, and you get a little chill, and you know, Oh, this is going to be good? It was like that. Jennifer Doudna, Ph.D. Credit:The New York Times.
Since the beginning of CRISPRs recent discovery as a precise and simple gene editing method, interest in its potential to improve our quality of life has skyrocketed, and with no end in sight. A similar excitement was expressed by one of the co-inventors of CRISPR, Jennifer Doudna from University of California Berkeley.
In 2011, Doudna was approached at a microbiology conference in Puerto Rico by a researcher from Max Planck Institute for Infection Biology, Emmanuelle Charpentier. The two started a conversation that laid the ground work for arguably one of the greatest collaborations, which spurred the invention of CRISPR.
I had this feeling. You know when you pick up a suspense novel, and read the first chapter, and you get a little chill, and you know, Oh, this is going to be good? It was like that, Doudna told The New York Times in 2015.
Surprisingly, the investigation of CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) in bacteria is not a new thing. Researchers have been exploring these repeated sequences since the 1980s, but their function was unknown at the time. Then, scientists slowly started to uncover clues about their purpose, which pointed to a built-in adaptive immune system that bacteria used to combat invaders such as viruses.
Within the past few years, researchers like Jennifer Doudna and Emanuelle Charpentier, along with postdoc researcher Martin Jinek, have been tapping into the gene-editing possibilities of the CRISPR-Cas9 system. Meanwhile, Feng Zhang from the Broad Institute and MIT was eager to show that the system worked in mouse and human cells, which he accomplished in his paper published in 2013. He even created an alternative genome engineering method called CRISPR-Cpf1, which may improve the tools precision and power.
Recently, the two groups of researchers entered a fiery battle for a CRISPR patent and the scientific community called for a moratorium on using CRISPR to edit the human germline for fear of unknown repercussions as a result of making heritable changes that could shift the gene pool. It will surely be intriguing to follow the progression of this gene editing system and its uncertain what the future holds.
How it works
The CRISPR-Cas9 system targets precise gene sequences and removes, adds to, or changes them with the help of two components: an enzyme called Cas9 and guide RNA (gRNA). Its based on the naturally occurring ability of bacteria to recognize and destroy invading viruses via a genetic memory.
SEE ALSO: The Epigenetics Behind the Flu
Cas9 acts as the scissor that snips the DNA and the RNA guide is a tailor-made sequence that ensures Cas9 is cutting in the right place. Researchers are able to program the guide RNA with any sequence of the genetic code they desire in order to lead Cas9 to the proper location.
Other techniques for editing DNA, such as TALENs and zinc finger nucleases were explored by researchers around the same time, but these methods have a much lower level of precision and are significantly more cumbersome. Unlike other techniques, CRISPR can even target multiple genes at once. The beauty of this gene editing system is how relatively simple, accessible, and incredibly precise it is. However, even among the accomplishments there are certainly limitations.
CRISPR accomplishments
As young as the technology is, scientists have been working feverishly with the CRISPR-Cas9 system in several applications. In one study published in PNAS, a group of researchers edited out a gene sequence in mosquitos and replaced it with a DNA segment that rendered them resistant to the parasite that causes malaria, known as Plasmodium falciparum. This could prevent mosquitos from transmitting the disease to humans entirely. Interestingly, when these malaria-resistant genetically modified mosquitos mated, they passed on the resistance to nearly 99% of their offspring. This was true even if a modified mosquito bred with a normal one.
A study conducted by a Chinese research team led by geneticist Lei Qu at Yulin University also demonstrated the successful use of CRISPR to bulk up livestock. They manipulated goats DNA to make them more muscular and produce more wool, in the hopes of bolstering the goat meat and cashmere sweater industry in Shaanxi, China. We believed gene-modified livestock will be commercialized after we demonstrate [that it] is safe, Qu predicted in an article by Scientific American.
Another group of researchers were able to edit out a genetic mutation in mice that causes a disease known as retinitis pigmentosa (RP), which can ultimately lead to blindness. Although not yet approved for use in humans, they were able to restore the mices vision and are hopeful for its therapeutic application in people. They recently published their results in Nature.
Not only can scientists edit genes using CRISPR, but they may be able to change the epigenome using CRISPR as well. Many diseases are not caused by a single genetic mutation but rather disturbed gene expression profiles. Harnessing the ability to edit epigenetic marks could drastically broaden our ability to cure a much wider range of disorders. In theory, perhaps editing our epigenome could allow us to cherry-pick more desirable behaviors.
Researchers can also utilize the power of next generation sequencing to perform chromatin immunoprecipitation sequencing (ChIP-seq) with a CRISPR/Cas9 antibody. The precise, high throughput capability of this method is especially promising because of the target efficiency of the Cas9 enzyme in conjunction with multiple guide RNAs, which can be used simultaneously for multiplexing. Not only can ChIP-seq be useful as an unbiased method for detecting on-target effects of the CRISPR-Cas9 gene editing system, but it might also be used to pinpoint how the system might miss the mark, which would be helpful when developing the system for therapeutic application.
Recently, researchers used the CRISPR-Cas9 system to add acetyl groups to histones, carrying enzymes to certain locations on the genome. Histone modifications, including histone acetylation and histone methylation, have the ability to remodel chromatin to make genes more or less accessible, influencing their expression. Other research suggests we may modify DNA methylation with CRISPR-Cas9, which could prove invaluable for understanding and treating disorders that are linked to this epigenetic modification, such as cancer, lupus, muscular dystrophy, and many others.
Although these studies have been conducted in animal models and the only CRISPR-Cas9 research on non-viable human embryos was performed in China, there is much more to be learned about the effects of CRISPR in humans and how it might be used towards creating what has gained a lot of attention recently superior designer babies.
Continue to the next page to read about designer babies and future directions.
Follow this link:
Cut Out the Hype: Gene Editing With CRISPR and the Truth about Superhuman 'Designer Babies' - WhatIsEpigenetics.com (blog)
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Making Big Data More Accessible | Technology Networks – Technology Networks
Posted: at 1:26 am
When a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine realized they were spending days combing through databases searching for information regarding gene variants, they decided to do something about it. By creating MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) they are now able to help not only their own lab but also researchers everywhere search databases all at once and in a matter of minutes.
This collaborative effort among Baylor, the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital (NRI) and Harvard Medical School is described in the latest online edition of the American Journal of Human Genetics.
Big data search engine
One big problem we have is that tens of thousands of human genome variants and phenotypes are spread throughout a number of databases, each one with their own organization and nomenclature that arent easily accessible, said Julia Wang, an M.D./Ph.D. candidate in the Medical Scientist Training Program at Baylor and a McNair Student Scholar in the Bellen lab, as well as first author on the publication. MARRVEL is a way to assess the large volume of data, providing a concise summary of the most relevant information in a rapid user-friendly format.
MARRVEL displays information from OMIM, ExAC, ClinVar, Geno2MP, DGV, and DECIPHER, all separate databases to which researchers across the globe have contributed, sharing tens of thousands of human genome variants and phenotypes. Since there is not a set standard for recording this type of information, each one has a different approach and searching each database can yield results organized in different ways. Similarly, decades of research in various model organisms, from mouse to yeast, are also stored in their own individual databases with different sets of standards.
Dr. Zhandong Liu, assistant professor in pediatrics neurology at Baylor, a member of the NRI and co-corresponding author on the publication, explains that MARRVEL acts similar to an internet search engine.
This program helps to collate the information in a common language, drawing parallels and putting it together on one single page. Our program curates model organism specific databases to concurrently display a concise summary of the data, Liu said.
Reference
Julia Wang, Rami Al-Ouran, Yanhui Hu et al. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. The American Journal of Human Genetics, 2017; DOI: 10.1016/j.ajhg.2017.04.010
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Making Big Data More Accessible | Technology Networks - Technology Networks
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The Genetics of Pooched-Out Pooches – New York Times
Posted: at 1:26 am
New York Times | The Genetics of Pooched-Out Pooches New York Times It is still unclear exactly what role genetics plays in human obesity. Studies comparing twins have suggested that a person's individual weight is as much as 70 percent determined by genes. Among adults, fewer than 1 percent of cases are thought to be ... |
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The Genetics of Pooched-Out Pooches - New York Times
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Red or white wine? Genetics may determine what you like to drink – Genetic Literacy Project
Posted: at 1:26 am
While these preferences have been around for as long as wine has been in existence, very little is known about why these preferences occur and more specifically how they might be regulated in the human body. There have been some studies looking at overall alcohol consumption habits and genetics, though much of this has been focused on intake and not necessarily preference.
The study published [originally] in the European Journal of Human Genetics, aimed to perform a genome-wide study on various populations to determine if there are any possible genetic links toward wine preference, specifically toward the liking of white wine.
A total of 5 populations were studied, including three from various areas in Italy, one from the Netherlands, and one from Central Asia. A total of 3885 individuals were included in this study.
The results of this study suggest that having a preference for white wine may be in part controlled by the HLA-DOA gene, specifically the rs9276975 SNP region. Additionally, this genetic link to preference may be stronger in women than in men.
[Read the full study here.]
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Wine Preference Linked to Genetics: Study Finds Liking White Wine is Associated With a Specific Gene
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Red or white wine? Genetics may determine what you like to drink - Genetic Literacy Project
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DNA Genetic Testing & Analysis – 23andMe
Posted: at 1:26 am
What to know about: ARSACS and our test
ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during early childhood.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.
What do we test? 1 variant in the SACS gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 67 samples with known variant status. 67 out of 67 genotype results were correct. About 1 in 5,200 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
ACCPN is a rare genetic disorder. It is characterized by an incomplete connection between the two sides of the brain. This causes developmental disability, weakness, and loss of sensation. A person must have two variants in the SLC12A6 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on physical and occupational therapy as well as other forms of supportive care as symptoms worsen, often into adulthood.
What do we test? 1 variant in the SLC12A6 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop before birth or during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing the symptoms of kidney, lung, and liver disease, as well as managing blood pressure.
What do we test? 3 variants in the PKHD1 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
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Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 149 samples with known variant status. 149 out of 149 genotype results were correct. About 1 in 35,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop any time from late infancy (severe form) into adulthood (intermediate form).
How it's treated: Treatment focuses on managing symptoms and preventing complications. Some individuals may require frequent blood transfusions.
What do we test? 10 variants in the HBB gene. Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG for people of African, Southeast Asian, and Mediterranean descent considering having children.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 461 samples with known variant status. 461 out of 461 genotype results were correct. About 1 in 11,200 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer. A person must have two variants in the BLM gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.
What do we test? 1 variant in the BLM gene. Carrier testing for Bloom syndrome is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the variant recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 70 samples with known variant status. 70 out of 70 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Canavan disease is a rare genetic disorder characterized by a loss of nerve cell function in the brain that worsens over time. A person must have two variants in the ASPA gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on preventing complications by monitoring diet, treating infectious diseases, and managing seizures.
What do we test? 3 variants in the ASPA gene. Carrier testing for Canavan disease is recommended by ACMG for people of Ashkenazi Jewish descent considering having children. This test includes the two variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 212 samples with known variant status. 212 out of 212 genotype results were correct.
PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. It is characterized by developmental delay, muscle weakness, and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop in infancy.
How it's treated: There is currently no known cure. Treatment focuses on nutritional, occupational, speech, and physical therapy.
What do we test? 2 variants in the PMM2 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 100 samples with known variant status. 100 out of 100 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as lung infections and malnutrition.
What do we test? 28 variants in the CFTR gene. The American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 21 of the 23 variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 1,514 samples with known variant status. 1,514 out of 1,514 genotype results were correct. About 1 in 610 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone, developmental disability, seizures, and early death. A person must have two variants in the HSD17B4 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop at birth or during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.
What do we test? 2 variants in the HSD17B4 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 97 samples with known variant status. 97 out of 97 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
DLD deficiency is a rare genetic disorder. It is typically characterized by low muscle tone and episodes of brain injury accompanied by liver disease. A person must have two variants in the DLD gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from infancy to adulthood
How it's treated: There is currently no known cure. Treatment focuses on maintaining a stable metabolic state through diet. Blood tests can be used for routine monitoring and to guide dietary recommendations.
What do we test? 1 variant in the DLD gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 50 samples with known variant status. 50 out of 50 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Familial dysautonomia is a rare genetic disorder that affects many different parts of the body. It is characterized by severe dysfunction in different parts of the nervous system involved in movement, the senses, and involuntary (autonomic) functions. A person must have two variants in the IKBKAP gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms are typically present at birth.
How it's treated: There is currently no known cure. Treatment focuses on managing nerve dysfunction by providing medications and supportive care.
What do we test? 1 variant in the IKBKAP gene. Carrier testing for familial dysautonomia is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 59 samples with known variant status. 59 out of 59 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Fanconi anemia group C is a rare genetic disorder. It is characterized by a decreased production of blood cells, birth defects, and an increased risk of infections and cancer. A person must have two variants in the FANCC gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from birth to adulthood.
How it's treated: There is currently no known cure. Treatment focuses on increasing the number of blood cells, managing disabilities, and screening for cancer. Stem cell transplants may correct blood cell problems in some cases.
What do we test? 3 variants in the FANCC gene. Carrier testing for Fanconi anemia group C is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the one variant recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 145 samples with known variant status. 145 out of 145 genotype results were correct. About 1 in 43,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
GRACILE syndrome is a rare genetic disorder. It is characterized by impaired growth before birth, iron buildup, liver damage, and death in infancy. A person must have two variants in the BCS1L gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop before birth.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and ultimately providing end-of-life supportive care.
What do we test? 1 variant in the BCS1L gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 46 samples with known variant status. 46 out of 46 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Gaucher disease type 1 is a rare genetic disorder that can affect many organs. It often leads to an enlarged liver and spleen, as well as bone abnormalities. A person must have two variants in the GBA gene, or two copies of a variant, in order to have Gaucher disease type 1.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from childhood to adulthood and can vary from mild to severe. Some people may never develop symptoms.
How it's treated: There is currently no known cure. Treatment varies depending on the severity of symptoms, but often includes enzyme replacement therapy.
What do we test? 3 variants in the GBA gene. Carrier testing for Gaucher disease type 1 is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes two of four variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 438 samples with known variant status. 437 out of 438 genotype results were correct. The performance of this test may be affected by the presence of rare mutations, such as c.1265_1319del55.
GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and poor growth. A person must have two variants in the G6PC gene in order to have this condition.
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Kendrick Lamar DNA. Lyrics | Genius Lyrics
Posted: at 1:26 am
On DNA., Kendrick adopts multiple viewpoints, celebrating, critiquing, and exploring his black heritage and culture. In the music video, Kendrick and Don Cheadle appear to trade bars/argue using the lyrics to this song.
In the same video clip, Lamar appears dressed in a traditional Kung Fu uniform. In an interview with Pitchfork, Don Cheadle confirmed that hes the inspiration for Kung Fu Kenny. Cheadle portrayed a Chinese speaking martial artist named Kung-Fu Kenny in Rush Hour 2.
The music video also contains snippets from Hood Politics, a song off of the 2015 Grammy award winning album To Pimp A Butterfly.
This song samples a different segment of the same Fox News clip to the previous song, BLOOD.
At the beginning of the video, you can hear YAH. (the next song on the album), and the ending of BLOOD. (the previous song on the album). It is the snippet from Geraldo Rivera criticizing Kendricks lyrics to Alright.
The song debuted at #4 on Billboard Hot 100 after the first week of tracking dated 05.06.17. Lamar appeared in the top 10 twice besides charting all 14 songs off the album on the chart with Humble topping the chart that week.
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Kendrick Lamar DNA. Lyrics | Genius Lyrics
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A-DNA – Wikipedia
Posted: at 1:26 am
A-DNA is one of the possible double helical structures which DNA can adopt. A-DNA is thought to be one of three biologically active double helical structures along with B-DNA and Z-DNA. It is a right-handed double helix fairly similar to the more common B-DNA form, but with a shorter, more compact helical structure whose base pairs are not perpendicular to the helix-axis as in B-DNA. It was discovered by Rosalind Franklin, who also named the A and B forms. She showed that DNA is driven into the A form when under dehydrating conditions. Such conditions are commonly used to form crystals, and many DNA crystal structures are in the A form. The same helical conformation occurs in double-stranded RNAs, and in DNA-RNA hybrid double helices.
A-DNA is fairly similar to B-DNA given that it is a right-handed double helix with major and minor grooves. However, as shown in the comparison table below, there is a slight increase in the number of base pairs (bp) per turn (resulting in a smaller twist angle), and smaller rise per base pair (making A-DNA 20-25% shorter than B-DNA). The major groove of A-DNA is deep and narrow, while the minor groove is wide and shallow.
Dehydration of DNA drives it into the A form, and this apparently protects DNA under conditions such as the extreme desiccation of bacteria.[1] Protein binding can also strip solvent off of DNA and convert it to the A form, as revealed by the structure of a rod-shaped virus.[2]
It has been proposed that the motors that package double-stranded DNA in bacteriophages exploit the fact that A-DNA is shorter than B-DNA, and that conformational changes in the DNA itself are the source of the large forces generated by these motors.[3] In this model, ATP hydrolysis is used to drive protein conformational changes that alternatively dehydrate and rehydrate the DNA, and the DNA shortening/lengthening cycle is coupled to a protein-DNA grip/release cycle to generate the forward motion that moves DNA into the capsid.
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A-DNA - Wikipedia
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DNA convicts man of rape he committed 20 years ago – New York Post
Posted: at 1:26 am
A Brooklyn man was convicted Tuesday of a nearly 20-year old rape he committed on a Park Slope subway platform.
DNA from cold case files helped prosecutors convict Johnny Jacob in the 1998 assault on a 19-year-old woman as she headed out for her first day of work.
Thanks to the DNA evidence collected at the time of this attack the defendant has now been held accountable for this brutal rape, acting District Attorney Eric Gonzalez said. This case once again underscores the importance of DNA evidence in proving guilt or innocence.
Gonzalez also lauded the victims bravery in coming forward to testify against her assailant.
Jacob approached her at 9:30 a.m. on March 2, 1998, as she exited the Fourth Ave subway stop at Ninth street. The fiend ordered her back on the platform, threatening to shoot her, as he held what she thought was a gun to her back. He then raped her.
The 45-year-old Jacob was nabbed in 2013, after he was convicted of federal money laundering charges and forced to submit DNA to the federal database.
His genetic material later came back matching that found at the rape scene.
Jacob faces 25 years behind bars when hes sentenced in June.
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DNA convicts man of rape he committed 20 years ago - New York Post
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