Category Archives: Human Genetics

Public release date: 6-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing Project, one of the largest medical sequencing studies ever undertaken.

Scientists participating in the project initially expected that individual rare variants would have a greater effect on over 80 heart, lung and blood related traits and diseases of high public health significance, said Suzanne M. Leal, Ph.D., professor and director, Center for Statistical Genetics in the Department of Molecular and Human Genetics of Baylor College of Medicine in Houston, TX.

The researchers found that many (1.1 million) of the 1.2 million coding variants that they identified in exome data from 4,420 European-Americans and 2,312 African-Americans occurred very infrequently in the population and often were only observed in a single individual, explained Dr. Leal, who presented the findings today at the American Society of Human Genetics 2012 meeting.

Dr. Leal added that most of the observed coding variants are population specific, occurring in either European or African Americans. "Of the identified variants, about 720,000 change the genetic code in a manner that could produce flawed proteins. Yet the role played by most of these variants in disease development has not been established," she said.

The major goal of the project was to understand how variation in the exome affects heart, lung and blood related traits and diseases.

The study participants were selected from a sample of over 220,000 individuals who participated in another National Institute of Health (NIH) supported study that had collected extensive medical data on the participants. "Individuals were selected to have a disease endpoint of interest or an extreme trait value of public health importance," said Dr. Leal.

By sequencing the exomes of 91 cystic fibrosis patients, Dr. Leal and her research colleagues discovered and replicated an association between variants in the DCTN4 gene and when a patient first develops a Pseudomonas aeruginosa airway infection.*

The researchers were also able to replicate many known associations between individual DNA variants and traits, such as high blood levels of low-density lipoprotein, known as the 'bad' cholesterol, and C-reactive protein, which increases the body's response to inflammation.

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Surprising findings from NHLBI Exome Sequencing Project reported

The 10000 Year Explosion: How Civilization Accelerated Human Evolution - , Henry Harpending
ll4.me The 10000 Year Explosion: How Civilization Accelerated Human Evolution - , Henry Harpending Resistance to malaria. Blue eyes. Lactose tolerance. What do all of these traits have in common? Every one of them has emerged in the last 10000 years. Scientists have long believed that the ?great leap forward #65533; that occurred some 40000 to 50000 years ago in Europe marked end of significant biological evolution in humans. In this stunningly original account of our evolutionary history, top scholars Gregory Cochran and Henry Harpending reject this conventional wisdom and reveal that the human species has undergone a storm of genetic change much more recently. Human evolution in fact accelerated after civilization arose, they contend, and these ongoing changes have played a pivotal role in human history. They argue that biology explains the expansion of the Indo-Europeans, the European conquest of the Americas, and European Jews #39; rise to intellectual prominence. In each of these cases, the key was recent genetic change: adult milk tolerance in the early Indo-Europeans that allowed for a new way of life, increased disease resistance among the Europeans settling America, and new versions of neurological genes among European Jews.Ranging across subjects as diverse as human domestication, Neanderthal hybridization, and IQ tests, Cochran and Harpending #39;s analysis demonstrates convincingly that human genetics have changed and can continue to change much more rapidly than ...From:anthony bishopViews:0 0ratingsTime:00:11More inPeople Blogs

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MEAT SHIELD (The Hidden)
#9658; #9658; #9658; Enjoy the video? Subscribe! bit.ly #9668; #9668; #9668; Download Here: http://www.hidden-source.com What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum Research experimental station stumbled across some remarkable phenomena involving DNA manipulation. This led to deeper research with dangerously unpredictable results, often leading to human patients losing their lives in irresponsible and immoral experiments. Time passed on, and by the mid 1990s the failure rate of the experiments had been reduced from 75% to a mere 15%, enough for Infinitum to move onto the next stage Biological Light Refraction. The British team were hoping to unravel the possibilities of light manipulation to create the perfect covert military agent. Early into the new millennium, due to a gross miscalculation, a series of tests on Subject 617 led to a massive synaptic trauma leaving the patient with multiple genetic anomalies. The subject was left in constant pain and with unstable DNA. The subject escaped captivity, killing anyone that got in its way. The IRIS (Infinitum Research Interception Squad) team have been deployed to return the subject to a maximum security Infinitum Research facility for further study and dissection. The entire project was considered a failure: all funding ceased and development was discontinued while all records and traces of the experiments ...From:SeaNannersViews:184596 6839ratingsTime:03:31More inGaming

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MEAT SHIELD (The Hidden) - Video

International Academy of Cardiology: Neil Bowles, Ph.D.: GENETIC CAUSES OF CONGENITAL HEART DEFECTS
NEW APPROACHES TO IDENTIFY THE GENETIC CAUSES OF CONGENITAL HEART DEFECTS Neil E. Bowles, Ph.D., SB Bleyl, MF Leppert, CB Arrington University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT, USA Presented at the: International Academy of Cardiology 17th World Congress on Heart Disease Annual Scientific Sessions 2012 Toronto, ON, Canada July 27-30, 2012 Congress Chairman: Asher Kimchi, MD http://www.CardiologyOnline.com Cardiology Online To read more about this presentation click here to download the Word file http://www.cardiologyonline.comFrom:cardiologyonlineViews:0 0ratingsTime:02:00More inScience Technology

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International Academy of Cardiology: Neil Bowles, Ph.D.: GENETIC CAUSES OF CONGENITAL HEART DEFECTS - Video

The Best Of: "The Hidden"
David and Steven are joined by friends Scott and BD while playing some Hidden, who #39;ll come out best in this battle to the Death? The IRIS or The Hidden? Download Here: http://www.hidden-source.com Gamer Quarantine are Ross: http://www.youtube.com Steven: http://www.youtube.com David: http://www.youtube.com Jason: http://www.youtube.com Twitter: twitter.com Subscribe for daily gaming videos! What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum Research experimental station stumbled across some remarkable phenomena involving DNA manipulation. This led to deeper research with dangerously unpredictable results, often leading to human patients losing their lives in irresponsible and immoral experiments. Time passed on, and by the mid 1990s the failure rate of the experiments had been reduced from 75% to a mere 15%, enough for Infinitum to move onto the next stage: Biological Light Refraction. The British team were hoping to unravel the possibilities of light manipulation to create the perfect covert military agent. Early into the new millennium, due to a gross miscalculation, a series of tests on Subject 617 led to a massive synaptic trauma leaving the patient with multiple genetic anomalies. The subject was left in constant pain and with unstable DNA. The subject escaped captivity, killing anyone that got in its way. The IRIS (Infinitum Research Interception Squad ...From:GamerQuarantineViews:57 10ratingsTime:04:56More inGaming

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The Best Of: "The Hidden" - Video

SCARY GAME - "The Hidden" With Mr.Mitch361, Charlie, and ChildDolphin
SCARY GAME - "The Hidden" With Mr.Mitch361, Charlie, and ChildDolphin #10140; Stay Updated And Join Videos With Me - twitter.com #10140; Our Challenge: 210 Motivations :)! Let Me Know If You Want More! (Motivation = Like and a Comment) "Show More" to open the description and read on..... "The Hidden" Website - http://www.hidden-source.com ------------------------------------------------------------------------------------------------------------ What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum Research experimental station stumbled across some remarkable phenomena involving DNA manipulation. This led to deeper research with dangerously unpredictable results, often leading to human patients losing their lives in irresponsible and immoral experiments. Time passed on, and by the mid 1990s the failure rate of the experiments had been reduced from 75% to a mere 15%, enough for Infinitum to move onto the next stage: Biological Light Refraction. The British team were hoping to unravel the possibilities of light manipulation to create the perfect covert military agent. Early into the new millennium, due to a gross miscalculation, a series of tests on Subject 617 led to a massive synaptic trauma leaving the patient with multiple genetic anomalies. The subject was left in constant pain and with unstable DNA. The subject escaped captivity, killing ...From:TheCampingRusherViews:2487 140ratingsTime:11:14More inGaming

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SCARY GAME - "The Hidden" With Mr.Mitch361, Charlie, and ChildDolphin - Video

GHOST DANCE (The Hidden)
#9658; #9658; #9658; Enjoy the video? Subscribe! bit.ly #9668; #9668; #9668; Download Here: http://www.hidden-source.com What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum Research experimental station stumbled across some remarkable phenomena involving DNA manipulation. This led to deeper research with dangerously unpredictable results, often leading to human patients losing their lives in irresponsible and immoral experiments. Time passed on, and by the mid 1990s the failure rate of the experiments had been reduced from 75% to a mere 15%, enough for Infinitum to move onto the next stage Biological Light Refraction. The British team were hoping to unravel the possibilities of light manipulation to create the perfect covert military agent. Early into the new millennium, due to a gross miscalculation, a series of tests on Subject 617 led to a massive synaptic trauma leaving the patient with multiple genetic anomalies. The subject was left in constant pain and with unstable DNA. The subject escaped captivity, killing anyone that got in its way. The IRIS (Infinitum Research Interception Squad) team have been deployed to return the subject to a maximum security Infinitum Research facility for further study and dissection. The entire project was considered a failure: all funding ceased and development was discontinued while all records and traces of the experiments ...From:SeaNannersViews:323524 12773ratingsTime:04:02More inGaming

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GHOST DANCE (The Hidden) - Video

Neil Risch - Wiki Article
Neil Risch is an American human geneticist and professor at the University of California, San Francisco (UCSF). Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics and Dir... Neil Risch - Wiki Article - wikiplays.org Original @ http All Information Derived from Wikipedia using Creative Commons License: en.wikipedia.org Author: Unknown Image URL: en.wikipedia.org Licensed under:Creative Commons ASA 3.0, This work is in the public domain in the United States.From:WikiPlaysViews:0 0ratingsTime:03:49More inEducation

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Public release date: 31-Oct-2012 [ | E-mail | Share ]

Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics

In response to the on-line publication by the European Journal of Human Genetics today (Wednesday) of an article by US researchers led by Dr. Robert Cook-Degan, a former member of the US Office of Technology Assessment, showing that Myriad Genetics, providers of the BRCA1/2 genetic test in the US, has amassed vast quantities of clinical data without sharing it, Professor Martina Cornel, chair of the European Society of Human Genetics' Professional and Public Policy committee, said:

"We are very concerned that such important data is being withheld from those who most need it. Interpreting the variants of unknown significance (VUS) that may be found on analysing the patient's genome plays an essential part in being able to provide proper counselling and if necessary, preventive or therapeutic guidance. By not sharing their data on the VUS obtained from individuals undergoing BRCA1/2 testing, where Myriad is the sole commercial provider of a test in the US, geneticists have been unable to develop the up-to-date algorithms that are necessary to best interpret the effects of genetic variants. While Myriad has access to public databases in order to help interpret their VUS results, this is currently not reciprocal.

"We know that, regrettably, medical geographic inequities are common, but what is particularly worrying about this situation is that it is the first time that such inequities have been based on a lack of access to clinical information, rather than lack of a product. Myriad's stated aim to enter the European market more vigorously may lead to unfair competition with academic institutions for predictive precision. It is vital that progress towards personalised medicine, which holds out so much promise, is not hindered by companies maintaining private genomic databases. Policymakers should take an urgent look at the regulatory and reimbursement issues involved in genomic testing in order for all the data that is essential to understanding the clinical significance of VUS to be made public, to the benefit of patients and healthcare providers alike."

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Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalized medicine

MOUNTAIN VIEW, Calif., Oct. 16, 2012 /PRNewswire/ --Today 23andMe, the leading personal genetics company, announces the appointment of Christine Castro as Vice President Communications, Neil Rothstein as Vice President Marketing, and Jonathan Ward as Vice President Strategic Alliances joining the company's executive leadership team.

As Vice President, Communications, Chris Castro is responsible for the company's corporate communications, media relations and investor relations initiatives. Prior to joining 23andMe, Chris served as Senior Vice President, Corporate Relations, for Genentech, as well as Chief Communications Officer for Yahoo! Inc. and Vice President, Corporate Communications for The Walt Disney Company. Chris has a Bachelor of Arts degree in journalism and a Master of Arts degree in communications management, both from the University of Southern California.

As VP Marketing, Neil Rothstein is responsible for the marketing, branding and customer acquisition activities of the company. Prior to joining 23andMe, Neil worked at Netflix for 11 years most recently serving as VP, Online Marketing where he led the company's global online marketing activities across the US, Canada, Latin America, UK, and Ireland. Neil has also had roles withRateItAll, ESPN, and the Atlanta Committee for the Olympic Games. Neil received an MBA from the Gouizueta Business School at Emory University anda BA in Economics from Brandeis University.

Serving as Vice President, Strategic Alliances, Jonathan Ward is responsible for the company's strategic partnerships. Prior to joining 23andMe, Jonathan served most recently as interim Chief Marketing Officer at eHarmony.com and held a variety of marketing and business development roles during his eight-year tenure there. Jonathan has also held marketing and business development roles at America Online, McKinsey & Company as well as Ogilvy, Adams & Rinehart. Jonathan has a Bachelor of Arts degree in English from Williams College and holds a Masters in management from the J.L. Kellogg School of Management at Northwestern University.

"The addition of these seasoned executives to our management team is essential to helping us manage our growth and continuing to expand the consumer genetics market,"said Anne Wojcicki, 23andMe CEO and co-founder. "I am thrilled to be working with such an experienced and innovative team."

About 23andMe23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at http://www.23andme.com.

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23andMe Names Christine Castro, Neil Rothstein and Jonathan Ward to Leadership Positions