UK Sends Troops to Protect Falkland Islands | CNBC
The UK has sent military support to the Falkland Islands, amid concerns that it faces an increased risk of an attack from Argentina, backed by Russia. CNBC #39;s Ted Kemp reports. Subscribe...
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Sky Eye - Trinidad - Down d Islands - Winn #39;s Bay
Winn #39;s Bay, Trinidad and Tobago Aerial Footage skyeyeimagery.com colibri-uav.com trinidaddrones.com.
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The United Kingdom plans to spend about $417 million, or 280 million pounds, to beef up defense spending in the Falklands Islands during the next decade to counter what the countrys defense minister calls a very live threat in Argentina.
The UK believes Argentina is becoming a growing menace to their south Atlantic territory because of the countrys nascent, but troubling, relationship with both Iran and Russia. So UK plans to improve its defense system and other facilities on the island and will send two Royal Air Force Chinook transport helicopters to help the islands' garrison mount a "swift and decisive response" to any "emerging incidents," said Defense Minister Michael Fallon, according to the BBC.
Troop levels on the islands will remain steady, at around 1,200 soldiers.
"The principle threat to the islands remains," Fallon told legislators on Tuesday, according to Time. "I am confident that, following this review, we have the right deployment."
The announcement from British officials comes as the government of Argentinian President Cristina Fernndez de Kirchner has been seen as cozying up to both Russia and Iran.
The Sun newspaper reported that Russia is planning to lease 12 long-range bombers to the Argentinian government -- something that Fallon denied was credible and an investigation by late Argentinian prosecutor Alberto Nisman found that the Fernndez government was willing to cover-up Iran's role in the 1994 bombing of a Buenos Aires Jewish center for cheaper oil from Tehran.
Besides Argentina's growing ties with some of the U.K.'s main adversaries on the world stage, relations between London and Buenos Aires have hovered between cordial to ice cold since the end of the brief, but bloody Falklands War in 1982.
Argentina, which calls the Falklands islands Las Malvinas, says it has a right to the territory because it inherited it from the Spanish crown in the early 1800s. It also cites the islands' proximity to South America as another reason why it should control them.
The approximate 3,000 residents who live on the islands, which lie about 300 miles off the coast of the Argentinian Patagonia, are almost exclusively of British descent and consider themselves loyal subjects of the British Crown a fact that the U.K. uses to base its claim on the islands.
There is some speculation that Fallon is using the Falklands issue as a political tool in the run-up to U.K.'s general election in six weeks. His Conservative Party is traditionally viewed as soundest on defense in an election where the issue has taken the forefront.
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UK boosting military spending to Falklands as Argentina firms up ties with Russia
Solomon Islands Timber delegation seeks opportunities in Australia and New Zealand
A group of Solomon Islands timber exporters and government officials are in Australia and New Zealand this week hoping to increase understanding among exporters and importers of market requirements and opportunities for Solomon Islands sawn timber. The mission started in Brisbane on Monday and carries on in Auckland until Sunday 29 March.
The delegation is meeting with importers, government officials and the New Zealand Timber Importers Association at Pacific Islands Trade & Invest office in Newmarket today. Sixty percent of Solomon Islands sawn timber is sold to markets in Australia and New Zealand.
At present, the vast majority of Solomon Islands timber is exported to China as unprocessed round logs, with wide recognition of the unsustainable level of harvesting. This delegation, however, is focused on promoting exports of sawn timber, as part of a wider goal of adding value to timber exports. Sawn timber exports from Solomon Islands are valued at over SBD 80 million or around USD $9.5 million per year, and the industry employs more than 1000 people.
The mission is being funded by the Pacific Horticultural & Agricultural Market Access (PHAMA) program as a follow up to market studies conducted in 2014. Based on those studies, the Solomon Islands Timber Industry Working Group recognised the need to better understand market requirements in Australia and New Zealand, and made the trade mission a priority.
The eight member delegation consists of five private sector timber exporters, two officials from the Solomon Islands Ministry of Forestry and Research and a PHAMA representative.
A key part of the mission will focus on importers and exporters exchanging information relating to market requirements for timber legality and quality. Markets in the EU and the United States have already introduced the requirement to demonstrate the legal origin of imported forestry products.
Australia implemented similar legislation in November 2014, while New Zealand (which currently has a voluntary code of practice) could also follow suit.
Other equally important discussions will include opportunities to improve timber quality and presentation, processing and end-product requirements, supply, consistency and potential markets for alternative species. Opportunities for potential collaboration with importers to improve timber
processing quality in Solomon Islands will also be examined. The outcomes from the mission will be shared in the Solomon Islands adding to the further development of the timber export industry.
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Human Genetics Lab Part 3 Vid
Color-blindness.
By: Laura Anna See
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BETHESDA, MD, USA and VIENNA, AUSTRIA - Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues.
The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics.
Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second step involves invasive procedures, such as amniocentesis, that in 0.5-1% of cases may lead to a miscarriage.
One important drawback of cFTS is the high rate of false alarms that lead to invasive procedures that put pregnancies at risk when the fetus is actually chromosomally normal. The main benefit of NIPT, apart from a significantly higher detection rate, is that it dramatically lowers the false alarm rate from about 5% to about 0.2%, making prenatal screening more accurate and safe. This is achieved by analyzing fragments of DNA in maternal blood, some of which provides information about the fetus. The fact that this 'fetal DNA' actually derives from the placenta is one reason why NIPT is not fully reliable. An important implication of this is that women who receive an abnormal NIPT result should still be advised to confirm this result through a second step of testing if they are considering a termination of pregnancy, the statement authors write.
The authors explored the benefits and drawbacks of various ways to implement NIPT, such as adding it to the current two-step process or using it to replace cFTS. As NIPT is significantly more expensive, the cost per test would need to be reduced considerably for the latter option to be feasible in fully funded prenatal screening programs, they noted. They also considered implications of the technology, including pressures on women to undergo the test and act upon the results, and the loss of ultrasound data that would indicate fetal problems if that step is removed from the screening process.
"Throughout our discussion, we kept in mind that the goal of prenatal screening is to enable autonomous, informed reproductive choices by pregnant women and their partners, not to prevent the birth of children with specific abnormalities," said Yvonne Bombard, PhD, 2014 chair of the ASHG Social Issues Committee.
The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development. They noted that as NIPT grows to include more conditions - producing results of varying certainty - pre-test genetic counseling will become significantly more complex.
"Although there is no convincing ethical reason to limit NIPT to Down syndrome and a few other chromosomal abnormalities, we are concerned about prematurely expanding NIPT to include rare conditions for which the test may not be sufficiently validated, or of which the clinical implications may not be fully understood. For example, parents-to-be will have to make difficult choices about how to act upon abnormal results for such conditions," said Wybo Dondorp, PhD, first author of the statement.
"A related concern about prematurely expanding the scope of the test is that it will reverse the significant decrease in false alarms and subsequent need for follow-up diagnostic procedures, which has been regarded as the main gain of NIPT in prenatal screening", said Diana Bianchi, MD, a member of the ASHG Social Issues Committee and co-author on the statement.
The statement authors also considered the longer-term question of how extensive prenatal genetic screening should be, and emphasized the role of infrastructure in enabling responsible use of NIPT. Priorities included educating health professionals and the public about its benefits and limitations, promoting equal access despite cost issues, controlling the quality of pre-test counseling and laboratory practices, and systematically evaluating the whole process. In all, the two committees published ten recommendations for the broader implementation of NIPT, including suggested next steps.
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ASHG and ESHG issue position statement on non-invasive prenatal screening
Scientists who sequenced the entire genomes of 2,636 people in Iceland have produced a trove of information about the nature, location, and frequency of human genetic variations.
The new research not only sheds light on the range of human genetic variability; it helps equip researchers to draw more direct lines between genes and diseases.
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FOR THE RECORD
A previous version of this story said the director of the Genetic Variation Program at the National Human Genome Research Institute was Linda D. Brooks. She is Lisa D. Brooks.
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In a package of articles published Wednesday in the journal Nature Genetics, a private consortium of researchers found genetic abnormalities long thought to doom their host to early death to be more common than has been believed. They also discovered new genetic contributors to such varied afflictions as Alzheimer's disease, liver disease and atrial fibrillation.
The effort, underwritten by Amgen's DeCode Genetics, a biopharmaceutical company based in Reykjavik, Iceland, offers scientists insight to the human genome that will expand their ability to investigate the genetic bases of human diseases.
By sequencing the full genomes of more than 2,500 Icelanders and comparing the results with less extensive genotype data from more than 104,000 other Icelanders, the teams identified more than 20 million genetic variants in the Icelandic population.
They then cross-checked that information against Iceland's extensive genealogical and healthcare information records, which would document diagnoses, chronicle treatment response and allow researchers to see how a single disease might run through generations of a given family.
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Icelandic genome offers clues to human diversity, gene-disease links
Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues.
The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics.
Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second step involves invasive procedures, such as amniocentesis, that in 0.5-1% of cases may lead to a miscarriage.
One important drawback of cFTS is the high rate of false alarms that lead to invasive procedures that put pregnancies at risk when the fetus is actually chromosomally normal. The main benefit of NIPT, apart from a significantly higher detection rate, is that it dramatically lowers the false alarm rate from about 5% to about 0.2%, making prenatal screening more accurate and safe. This is achieved by analyzing fragments of DNA in maternal blood, some of which provides information about the fetus. The fact that this 'fetal DNA' actually derives from the placenta is one reason why NIPT is not fully reliable. An important implication of this is that women who receive an abnormal NIPT result should still be advised to confirm this result through a second step of testing if they are considering a termination of pregnancy, the statement authors write.
The authors explored the benefits and drawbacks of various ways to implement NIPT, such as adding it to the current two-step process or using it to replace cFTS. As NIPT is significantly more expensive, the cost per test would need to be reduced considerably for the latter option to be feasible in fully funded prenatal screening programs, they noted. They also considered implications of the technology, including pressures on women to undergo the test and act upon the results, and the loss of ultrasound data that would indicate fetal problems if that step is removed from the screening process.
"Throughout our discussion, we kept in mind that the goal of prenatal screening is to enable autonomous, informed reproductive choices by pregnant women and their partners, not to prevent the birth of children with specific abnormalities," said Yvonne Bombard, PhD, 2014 chair of the ASHG Social Issues Committee.
The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development. They noted that as NIPT grows to include more conditions -- producing results of varying certainty -- pre-test genetic counseling will become significantly more complex.
"Although there is no convincing ethical reason to limit NIPT to Down syndrome and a few other chromosomal abnormalities, we are concerned about prematurely expanding NIPT to include rare conditions for which the test may not be sufficiently validated, or of which the clinical implications may not be fully understood. For example, parents-to-be will have to make difficult choices about how to act upon abnormal results for such conditions," said Wybo Dondorp, PhD, first author of the statement.
"A related concern about prematurely expanding the scope of the test is that it will reverse the significant decrease in false alarms and subsequent need for follow-up diagnostic procedures, which has been regarded as the main gain of NIPT in prenatal screening," said Diana Bianchi, MD, a member of the ASHG Social Issues Committee and co-author on the statement.
The statement authors also considered the longer-term question of how extensive prenatal genetic screening should be, and emphasized the role of infrastructure in enabling responsible use of NIPT. Priorities included educating health professionals and the public about its benefits and limitations, promoting equal access despite cost issues, controlling the quality of pre-test counseling and laboratory practices, and systematically evaluating the whole process. In all, the two committees published ten recommendations for the broader implementation of NIPT, including suggested next steps.
The rest is here:
Position statement on non-invasive prenatal screening issued
Scientists sequenced largest ever set of genomes from a single nation The data reveals some surprising genetic mutations in Icelandic people Data also revealed that the father of humanity is older than first thought Eight per cent of the population has a gene that doesn't function at all Study found genes that increase the risk of Alzheimer's and liver disease Scientists say data will help them develop better treatments for disease
By Ellie Zolfagharifard For Dailymail.com
Published: 17:09 EST, 25 March 2015 | Updated: 03:19 EST, 26 March 2015
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In a genetic first, scientists have sequenced the largest ever set of human genomes from a single population.
The epic undertaking involved sequencing the DNA of 2,636 Icelanders and comparing them with the partial sequences of another 104,000.
Among several key finds, the data set suggests that the 'father of humanity' - our most recent common male ancestor - lived between 174,000 and 321,000 years ago.
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Landmark DNA study in Iceland reveals new insights into evolution and disease
YPG State of Jobs 2015
The State of Jobs Conference is a one-day event held on Thursday, February 26 2014 to educate local high school students, college students, and young professionals on growing industries and...
By: Sarasota YPG
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WASHINGTON President Barack Obama wants to cut health care costs by reducing inefficiencies like unnecessarily long hospital stays and excessive paperwork for doctors that rack up big bills.
Obama on Wednesday will launch what the White House calls a Health Care Payment Learning and Action Network. The White House says more than 2,800 health care providers, patients and consumer groups have agreed to take part.
The goal is to tie more payments for health care services to the quality not quantity of services rendered. Earlier this year the administration set a goal to tie 30 percent of Medicare payments to quality and value, but Obama wants to go further.
Obama will announce the new network during a speech marking the fifth anniversary of his health care law, the Affordable Care Act.
The Centers for Disease Control and Prevention reported this week that the number of uninsured U.S. residents fell by more than 11 million since Obama signed the law. Although that still would leave about 37 million people uninsured, it's the lowest level measured in more than 15 years.
The health care law offers subsidized private coverage to people who don't have access to it on the job, as well as an expanded version of Medicaid geared to low-income adults, in states accepting it.
The White House says 16 million people have gained health insurance, a considerably higher estimate than Tuesday's findings from CDC's National Center for Health Statistics. The figures cited by the White House cover a longer period of time, through the beginning of this month. That includes the law's second sign-up season. The estimate was produced by the principal policy adviser to Health and Human Services Sylvia M. Burwell.
The main question hanging over the law now is a Supreme Court case in which opponents argue that its subsidies are illegal in most states. They contend that the exact wording of the law only allows subsidized coverage in states that have set up their own insurance markets. Most have not done so, relying instead on the federal HealthCare.gov.
The administration counters that the context of the law makes it clear the purpose was to expand coverage in every state. A decision is expected to be announced by late June.
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BATON ROUGE, La. (AP) - Gov. Bobby Jindals hospital privatization deals that provide care for uninsured patients are precariously balanced in next years budget recommendations, with one-third of their financing reliant on tax changes uncertain to win passage from state lawmakers.
The House Appropriations Committee was told Wednesday that the governors $9.5 billion health care spending plan for the fiscal year that begins July 1 relies on $407 million from Jindals proposal to shrink spending on certain tax breaks.
Most of that uncertain money, $332 million, is plugged into payments for Jindals contracts that turned over the LSU-run hospitals and clinics to private managers. If those dollars dont show up, hospital payments would be cut from more than $1.1 billion to $815 million under the governors budget.
If that (money) is not seen, do you foresee a possibility of any of these partnerships coming back to the table, backing out, being revised? Rep. Patricia Smith, D-Baton Rouge, asked Health and Hospitals Secretary Kathy Kliebert.
Kliebert replied: Certainly, I would see the possibility of the partners coming back and some requesting to be out of the contract, out of their agreement, or they would have to significantly reduce services.
Already, the private operators of the state-owned hospitals and clinics say they need $142 million more than Jindals budget provides - even with the money from the tax break scale-backs. Nearly $88 million of that request would pay for the hospital in New Orleans, which will shift services from an interim facility to a larger, new hospital this summer.
Kliebert said she thinks she has identified a funding stream to pay for the increased costs of the new hospital in New Orleans. But Appropriations Committee Chairman Jim Fannin told her she should not assume the dollars from Jindals proposal to rework the tax credits would arrive.
Business leaders and lawmakers are balking at the biggest tax credit on the chopping block in the governors plan. Fannin, R-Jonesboro, said lawmakers need to consider the health care proposal without having the money from the tax changes because that takes a lot of action to ever get there.
Smith and other committee members worried about the potential impact on health care services for the poor and uninsured if the LSU privatization deals face steep cuts.
Since we are already in a very detrimental place when it comes to health outcomes, that would be even more detrimental to us as a state, wouldnt you agree? she asked Kliebert.
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MOUNT VERNON Gov. Jay Inslee visited Skagit County as part of a tour of the region Tuesday to talk health care, labor and business.
As part of his visit, Inslee toured the Northwest Washington Electrical Industry Joint Apprenticeship and Training Committee in Mount Vernon. The apprenticeship is a labor and management training program for electricians.
Inslee told students that it is a goal of his to make sure jobs are available for graduates of the program.
Passing a transportation package this year so students have work when they get out is a top priority, Inslee said.
Unless a maintenance budget is passed this year, 71 bridges statewide will become functionally obsolete, Inslee said.
Inslee told students and instructors that their point of view is needed to successfully legislate infrastructure and transportation.
There arent enough working people in the legislative bodies, and thats a problem, he said.
Inslee also hosted a discussion with North Sound health officials and discussed the benefits of mental health integration.
Skagit County is part of the North Sound Accountable Community of Health, one of two pilot programs in the state that aims to improve health and lower health care costs in the region.
Part of the program identifies frequent 911 callers and those who use hospitals the most, and connects them with case managers who can troubleshoot with them and keep patients out of hospitals, said Sharen Sandell, a case manager with the Whatcom Alliance for Health Advancement.
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Newswise The program for the upcoming health-care symposium is being finalized, featuring more than 200 presentations by researchers, physicians and other health-care providers, medical device designers, policy-makers, health IT professionals, and biomedical engineers. The symposium, hosted by the Johns Hopkins Armstrong Institute for Patient Safety and Quality, will be held April 26-29 at the Baltimore Marriott Waterfront Hotel in Baltimore, Maryland.
The program is again organized in four tracks: Patient and Health-Care Provider Safety, Clinical and Consumer Health-Care Information Technology, Medical and Drug-Delivery Devices, and Clinical Care Settings.
Here is just a sampling of the case studies, research, and design guidance that will be presented at this years symposium:
Patient, Heal Thyself: A Manifesto for Consumer Health Design, Joseph Cafazzo, Healthcare Human Factors Improve Patient Outcomes by Enhancing the Fit Between Clinical Workflow and Health-Care Information Systems, Eleanor Hunt, Toolshed Technologies, Inc. Pilots to Performance: Improving Maternal and Child Health Through Human Factors Collaborations With Public Health, Michelle Rogers, Drexel University Investigating Error in Diagnosis: Qualitative Results From a Virtual Patient Simulation Pilot Study, Daniel Nystrom, Linda Williams, and Douglas Paull, VA National Center for Patient Safety A Product Liability Perspective on Medical Device Development, Robert Rauschenberger and Emily Hildebrand, Exponent, Inc. New International and Domestic Medical Device Standards, Edmond Israelski, AbbVie Patterns of Excellent Team Coordination in Trauma Resuscitation, Sarah Parker, MedStar Institute for Innovation - National Center for Human Factors Engineering in Healthcare Combating Ebola: The Role of HF/E Response to the Recent EVD Outbreak, Chair: Joseph Keebler, Wichita State University
The symposium offers a unique opportunity for attendees from the health-care industry, academia, consulting, and regulatory agencies to engage in discussions about challenges in health-care delivery, learn how HF/E science and practice is meeting those challenges, and work jointly on improving patient safety outcomes.
To access the full preliminary program, visit http://www.hfes.org/web/HFESMeetings/2015hcspreliminary.html.
To obtain a press pass for the symposium, please contact HFES Communications Director Lois Smith (lois@hfes.org) or Communications Associate Cara Quinlan (cara@hfes.org).
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Patricia L. Hall, Ph.D., FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award for the best publication in ACMG's academic journal, Genetics in Medicine
Patricia L. Hall, PhD, FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMGG, international equivalents or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM).
Each year the editorial board reviews all articles published in GIM by an ABMGG or genetic counseling trainee who was either a first or corresponding author during that year. The manuscript considered to have the most merit is selected by the editorial board and a cash prize, along with meeting expenses, is awarded at the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah.
Dr. Hall was given the award for her manuscript titled, "Postanalytical tools improve performance of newborn screening by tandem mass spectrometry" which was published in the December 2014 issue of Genetics in Medicine. The corresponding author was Piero Rinaldo, MD, PhD, FACMG of the Mayo Clinic. Dr. Hall is currently a Director in the Biochemical Genetics Laboratory at Emory University, "It is an honor to have the hard work and dedication of everyone involved with our newborn screening paper recognized with the Richard King Trainee Award for best publication."
The award is given by the ACMG Foundation and is named for Dr. Richard King in recognition of his instrumental role in creating Genetics in Medicine and serving as the first and founding Editor-in-Chief of the journal.
Eligible trainees include those in the following programs: Clinical Biochemical Genetics; Clinical Cytogenetics; Clinical Molecular Genetics Combined Internal Medicine/Genetics; Combined Pediatrics/Genetics; PhD Medical Genetics and Genetic Counseling.
###
The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics and genetic counseling in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to promote the profession of medical genetics and genomics to medical students, to fund the training of future medical geneticists, to support best-practices and tools for practicing physicians and laboratory directors, to promote awareness and understanding of our work in the general public, and much more.
Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.
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Patricia Hall, Ph.D., earns 2015 King Trainee Award for best publication, Genetics in Medicine
Photo: Chris Lund The blood of a thousand Icelanders.
When the first Viking explorers began settling Iceland, none could have imagined that theirdescendants would pioneer thefuture of modern medicine by surveying the human genome. Fast forward 1000 years to today, whenanIcelandic company has revealedits success insequencing the largest-ever set of human genomes from a single population. The new wealth of genetic data has already begunchanging our understanding of human evolutionary history. It also sets the stage for a new era of preventive medicinebased on individual genetic risks fordiseases such as cancer and Alzheimers disease.
Themilestone in genome sequencing comesfromdeCODE Genetics, a biopharmaceutical company inReykjavk, Iceland. Theirwork, published as four papers in the 25 March 2015 issue of the journalNature Genetics,has yielded new insights aboutthecommon human ancestor for the male Y chromosomenarrowed tosomewhere between 174,000 and 321,000 years agobased on their latest calculation of human mutation rates. Another part of their work discovered thatabout 7.7 percent of the modern-day population has rare knockout genesgenes that have beendisabled by mutations. Early research has also revealed a mutation in theABCA7gene,whichdoubles the risk of Alzheimers disease in Iceland and other populations dominated by European ancestry.
These are just a handful of observations that have come out of the ability to look at the sequence of the genome of an entire nation,saidKari Stefansson, founder of deCODE Genetics, during a press briefing onMonday, 23 March.What is more, we are now sitting in Iceland with the possibility of taking advantage of these insights when it comes to the Icelandic healthcare system.
The company sequenced thewhole genomes of 2636 Icelanders and used those genomes as the basis for calculatingthe genetic variances for the entire Icelandic population.Iceland represents a unique laboratory for genetics researchers because much of the modern population traces its lineage to a relatively small number of founders; a fact that makes it easier to trace genealogies and pedigrees.
Myles Axton, chief editor ofNature Genetics, introduced the Monday press briefingbydescribing how the genetic sequencing strategy in Iceland could also work for other countries:
This strategy of sequencing the DNA of about 1 in 100 of the population, a total of 2,636 Icelanders, and then using shared sets of common genetic variance to predict the full spectrum of genetic variance carried by the whole population, is a great model for the future of human genetics. This technique can be applied to any population and is all the more accurate when there are pedigrees available for much of the population.
Genome sequencing has alloweddeCODE Genetics to begin data-mining information about how certain genes function and their relationship to a broad array of diseases. Past findings from such research included additional insights about gene variants associated with Alzheimers disease and schizophrenia.
The growing database on knockout genes may prove particularly helpful when matched against the phenotypes of individualsthe physical traits or characteristics that can be observed. Perhaps unsurprisingly, the researchers found that knockouts are least common among genes expressed in the brain, given that organs importance.
Basically what we hope to get out of phenotyping the carriers of these knockouts is to figure out which biochemical pathways are necessary for which physiological functions, Stefansson explained.Then the question is whetherthere is redundancy in some of these physiological functions;are there alternative biochemical pathways that can compensate for the loss of one?
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Its the most complete genetic map of an entire country yet completed and it could show clues of what medicine could look like in the coming age of big data.
Researchers working at DeCode Genetics, a unit of the drug company Amgen, have sequenced the genomes of 2,636 Icelanders and used genealogical records and more spotty genetic data to calculate the likely genetics of 101,584 more. Because DeCode has anonymized access to patient medical records, the company could then look for relationships between the genetic variants and disease and they found a new genetic variant that increases the risk of Alzheimers, as well as confiming suspected variants that raise the risk of diabetes and one that causes atrial fibrillation, a heart condition. The results are published in three scientific papers in the journal Nature.
Its certainly an impressive tour de force, says George Yancopoulos, the Chief Scientific Officer of Amgen rival Regeneron. This is certainly establishing a benchmark for all of us and showing the value of this type of analysis, in particular in the Icelandic population.
Regeneron is creating its own database of sequencing data with Pennsylvanias Geisinger Health Systems. The United Kingdom has embarked on a 100,000 Genomes Project. And President Obama has proposed linking together lots of ongoing sequencing projects into a database of 1 million volunteers. The DeCode experiment, started 18 years ago during the dot-com boom, is our first look at the kind of data that these gargantuan efforts could produce.
Some important basic science questions were answered. For instance, a lot of effort is put into figuring out when the most recent common male ancestor of all people has lived, an area of research that could be important for understanding of diseases linked to the (male) Y chromosome. But Amgen bought DeCode, and its access to Icelands population for $415 million two years ago. It didnt spend that kind of coin to find out about the mutation rate on the Y chromosome.
The hope has always been that these kinds of genetic data would lead to new drugs. And DeCode provides a series of huge leads. Scientists frequently try to figure out what genes do by knocking them out (that is, breaking them) in mice. Doing the same experiment in humans would be, of course, highly unethical.
Except that some people are born with naturally dysfunctional copies of some genes. And these can be clues to drugs. Theres even a great example: having a dysfunctional version of a gene called PCSK9 results in lower cholesterol levels and rates of heart disease. There are even people with two broken copies of the gene, including an aerobics instructor in Dallas who has levels of LDL, or bad cholesterol, of 14 milligrams per deciliter, compared to normal levels of more than 100 mg/dL.
Both Amgen and Regeneron have drugs (evolocumab and alirocumab) that block PCSK9 that will soon hit the market, in what is expected to be one of the most heated drug launches in years. Drug company executives hope that more genetic data would mean finding more genes like PCSK9 that could be useful drug targets.
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Amgen Releases A Giant Genetic Portrait Of A Nation -- And A Map Of The Future
Irvine, CA (PRWEB) March 25, 2015
Proove Biosciences, a commercial and research leader in Personalized Medicine, is excited to announce the success of their commercially supported symposium, Personalized Medicine: Incorporating Genetic Testing to Optimize the Management of Pain, at the 31st Annual American Academy of Pain Medicine conference in National Harbor, Maryland on Thursday, March 19th, 2015.
The symposiums faculty, which consisted of former AAPM President Lynn Webster, M.D., former Florida Society of Interventional Pain Physicians President Sanford Silverman, M.D., and local D.C. pain physician Abraham Cherrick, M.D. presented supporting data for Prooves proprietary genetic tests; tests that are designed to objectively guide clinical decisions in screening for opioid contraindications, improve medication efficacy, and avoid adverse drug events.
Most people don't realize the tremendous variability people have to the same painful stimulus. This is why some people hurt while other don't seem to be bothered by the same type of trauma. states Lynn Webster, M.D. It is now clear that pain sensitivity is significantly influenced by our genes. Scientist are able to identify pain reducing genes and pain elaboration genes.
Webster, M.D. continues, Although it is only an emerging field it is exciting because genotyping may allow us to identify people who are more likely to respond to one drug than another. Even more importantly, genotyping offers potential to identify individuals who may have side effects or toxicity to certain drugs. This means genetic testing can lead to safer and more effective therapy. Personalized medicine uses genetic testing to optimize pain management and many other areas in medicine.
About Proove Biosciences Our Mission is to Change the Future of Medicine. Proove is the proof to improve healthcare decisions. We seek to realize a future when clinicians look back and wonder how they couldve ever prescribed medications without knowing how a patient would respond. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of personalized pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve outcomes both safety and efficacy of medical treatment. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proove.com or call toll free 855-PROOVE-BIO (855-776-6832).
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Biotechnology Part I - Mr Pauller
This video presents the topic of biotechnology. Included in the discussion are: genetic engineering, PCR, plasmids, cloning, and restriction enzymes.
By: Noel Pauller
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(New York - March 25, 2015) Induced pluripotent stem cells (iPSCs) -- adult cells reprogrammed back to an embryonic stem cell-like state--may better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. The results appear in an upcoming issue of Nature Biotechnology.
In MDS, genetic mutations in the bone marrow stem cell cause the number and quality of blood-forming cells to decline irreversibly, further impairing blood production. Patients with MDS can develop severe anemia and in some cases leukemia also known as AML. But which genetic mutations are the critical ones causing this disease?
In this study, researchers took cells from patients with blood cancer MDS and turned them into stem cells to study the deletions of human chromosome 7 often associated with this disease.
"With this approach, we were able to pinpoint a region on chromosome 7 that is critical and were able to identify candidate genes residing there that may cause this disease," said lead researcher Eirini Papapetrou, MD, PhD, Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai.
Chromosomal deletions are difficult to study with existing tools because they contain a large number of genes, making it hard to pinpoint the critical ones causing cancer. Chromosome 7 deletion is a characteristic cellular abnormality in MDS and is well-recognized for decades as a marker of unfavorable prognosis. However, the role of this deletion in the development of the disease remained unclear going into this study.
Understanding the role of specific chromosomal deletions in cancers requires determining if a deletion has observable consequences as well as identifying which specific genetic elements are critically lost. Researchers used cellular reprogramming and genome engineering to dissect the loss of chromosome 7. The methods used in this study for engineering deletions can enable studies of the consequences of alterations in genes in human cells.
"Genetic engineering of human stem cells has not been used for disease-associated genomic deletions," said Dr. Papapetrou. "This work sheds new light on how blood cancer develops and also provides a new approach that can be used to study chromosomal deletions associated with a variety of human cancers, neurological and developmental diseases."
Reprogramming MDS cells could provide a powerful tool to dissect the architecture and evolution of this disease and to link the genetic make-up of MDS cells to characteristics and traits of these cells. Further dissecting the MDS stem cells at the molecular level could provide insights into the origins and development of MDS and other blood cancers. Moreover, this work could provide a platform to test and discover new treatments for these diseases.
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This study was supported by grants from the National Institutes of Health, the American Society of Hematology, the Sidney Kimmel Foundation for Cancer Research, the Aplastic Anemia & MDS International Foundation, the Ellison Medical Foundation, the Damon Runyon Cancer Research Foundation, the University of Washington Royalty Research Fund, and a John H. Tietze Stem Cell Scientist Award.
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Researchers discover genetic origins of myelodysplastic syndrome using stem cells