Scientists have revealed a brand new function for one of the first cancer genes ever discovered - the retinoblastoma gene - in a finding that could open up exciting new approaches to treatment.

The retinoblastoma gene is so called because mutations to it cause a rare children's eye cancer of the same name, and is known to play a central role in stopping healthy cells from dividing uncontrollably.

Now the new study - jointly led by scientists at The Institute of Cancer Research, London, and UCL (University College London) - has found that the gene also has another important function, in helping to 'glue' severed strands of DNA back together.

The research suggests that existing drugs that exploit the weaknesses of some cancers in repairing their DNA could be effective against tumours with mutations to the retinoblastoma gene.

The study, published today (Thursday) in the journal Cell Reports, was funded by a range of organisations including Cancer Research UK, Worldwide Cancer Research, the Wellcome Trust and The Institute of Cancer Research (ICR) itself.

Researchers found that mutations to the retinoblastoma gene or RB1 - which are found in many cancers - prevent the effective fixing of broken DNA strands. This results in chromosome abnormalities which can lead to the development of tumours and drive cancers to evolve into more aggressive forms.

Numerous common cancer types have RB1 mutations, including hard-to-treat cancers such as triple-negative breast cancer, small cell lung cancer, glioblastoma, and aggressive types of prostate cancer.

Researchers deleted the RB1 gene from lab-grown human and mouse cancer cells, and looked at a variety of measures that indicate defective DNA repair. They found substantially more double-stranded DNA breaks and chromosome abnormalities in cells that lacked RB1 than those where the gene was functional.

In another experiment, the researchers demonstrated that the RB1 protein attaches to two other protein called XRCC5 and XRCC6, forming a cluster of molecules that mend broken strands of DNA.

RB1 was first discovered in the 1980s and has long been known to have an important role in controlling cell division. It was discovered through studies of the rare eye cancer retinoblastoma, which in around half of cases is caused by inherited mutations to the RB1 gene.

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Large genome databases are starting to reveal critical health informationeven about people who have not contributed their DNA.

Maps show how common certain risk-causing DNA mutations are around Iceland.

The CEO of an Icelandic gene-hunting company says he is able to identify everyone from that country who has a deadly cancer risk, but has been unable to warn people of the danger because of ethics rules governing DNA research.

The company, DeCode Genetics, based in Reykjavk, says it has collected full DNA sequences on 10,000 individuals. And because people on the island are closely related, DeCode says it can now also extrapolate to accurately guess the DNA makeup of nearly all other 320,000 citizens of that country, including those who never participated in its studies.

Thats raising complex medical and ethical issues about whether DeCode, which is owned by the U.S. biotechnology company Amgen, will be able to inform members of the public if they are at risk for fatal diseases.

Kri Stefnsson, the doctor who is founder and CEO of DeCode, says he is worried about mutations in a gene called BRCA2 that convey a sharply increased risk of breast and ovarian cancers. DeCodes data can now identify about 2,000 people with the gene mutation across Icelands population, and Stefnsson saidthat the company has been in negotiations with health authorities about whether to alert them.

We could save these people from dying prematurely, but we are not, because we as a society havent agreed on that, says Stefnsson. I personally think that not saving people with these mutations is a crime. This is an enormous risk to a large number of people.

The Icelandic Ministry of Welfare said a special committee had been formed to regulate such incidental findings and would propose regulations by the end of the year.

Kri Stefnsson

The technique used by DeCode to predict peoples genes offers clues to the future of so-called precision medicine in other countries, including the U.S., where this year President Barack Obama called for researchers to assemble a giant database of one million people (see U.S to Develop DNA Study of One Million People). A large enough U.S. database could also be used to infer genes of people whether or not they had joined it, says Stefnsson, and could raise similar questions about whether and how to report health hazards to the public.

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Newswise New Brunswick, N.J., March 25, 2015 Nearly 10,000 deaths from melanoma the deadliest of all skin cancers occurred in the U.S. last year, according to the National Cancer Institute. And while treatment advances have been made in fighting melanoma, a majority of these patients will die from their disease. In an aim to build upon these advances, investigators at Rutgers Cancer Institute of New Jersey have demonstrated that removal of a gene involved in the cellular self-cannibalization process of autophagy could provide therapeutic benefit to patients with melanoma.

Half of all melanomas harbor an activating mutation in the BRAF gene that turns on the cancer signaling pathway in cells known as the MAP kinase pathway. Activation of the MAP kinase pathway promotes tumor growth and survival. Drugs designed to selectively block activated BRAF have led to significant improvement in clinical response and overall survival in melanoma patients, but resistance to these drugs often develops leading to recurrence. With this study, published in the current online edition of Cancer Discovery (doi: 10.1158/2159-8290.CD-14-1473), senior author Janice M. Mehnert, MD, medical oncologist in the Melanoma and Soft Tissue Oncology Program at the Cancer Institute of New Jersey, in collaboration with Eileen White, PhD, associate director for basic science at the Cancer Institute and distinguished professor of molecular biology and biochemistry at Rutgers School of Arts and Sciences, aimed to identify mechanisms critical for melanoma that could be targeted in conjunction with BRAF inhibition.

Investigators tested the consequence of removing the autophagy gene known as ATG7 from laboratory models of BRAF-driven melanoma. Autophagy is a process in which intracellular components are recycled in order to help sustain cell growth. When ATG7 was removed from melanomas they found much smaller tumors with increased senescence, which is a known barrier to cancer that causes tumor cells to stop proliferating. Thus ATG7 promotes development of BRAF-mutated melanoma by overcoming senescence. They went on to show that loss of ATG7 potentiated the anti-tumor activity of a BRAF inhibitor in melanoma. The work demonstrates that BRAF-mutated melanoma requires autophagy for tumor development and blocking autophagy could have therapeutic value, particularly in combination with BRAF inhibition.

This discovery that ATG7 promotes the growth of melanoma tumors underscores that the development of agents targeting autophagy may effectively inhibit melanoma growth, notes Dr. Mehnert, who is an associate professor of medicine at Rutgers Robert Wood Johnson Medical School. Clinical trials seeking to block the process of autophagy are ongoing at the Cancer Institute.

Other authors on the study include: Xiaoqi Xie, Ju Yong Koh and Sandy Price, all Cancer Institute and Robert Wood Johnson Medical School.

The work was supported by funding from the V Foundation for Cancer Research, National Institutes of Health (R01CA163591, R01CA130893), the Val Skinner Foundation and Rutgers Cancer Institute of New Jersey (pilot grant P30CA072720).

About Rutgers Cancer Institute of New Jersey Rutgers Cancer Institute of New Jersey (www.cinj.org) is the states first and only National Cancer Institute-designated Comprehensive Cancer Center. As part of Rutgers, The State University of New Jersey, the Cancer Institute of New Jersey is dedicated to improving the detection, treatment and care of patients with cancer, and to serving as an education resource for cancer prevention. Physician-scientists at the Cancer Institute engage in translational research, transforming their laboratory discoveries into clinical practice, quite literally bringing research to life. To make a tax-deductible gift to support the Cancer Institute of New Jersey, call 848-932-3637 or visit http://www.cinj.org/giving. Follow us on Facebook at http://www.facebook.com/TheCINJ.

The Cancer Institute of New Jersey Network is comprised of hospitals throughout the state and provides the highest quality cancer care and rapid dissemination of important discoveries into the community. Flagship Hospital: Robert Wood Johnson University Hospital. System Partner: Meridian Health (Jersey Shore University Medical Center, Ocean Medical Center, Riverview Medical Center, Southern Ocean Medical Center, and Bayshore Community Hospital). Major Clinical Research Affiliate Hospitals: Carol G. Simon Cancer Center at Morristown Medical Center and Carol G. Simon Cancer Center at Overlook Medical Center. Affiliate Hospitals: JFK Medical Center, Robert Wood Johnson University Hospital Hamilton (CINJ Hamilton), and Robert Wood Johnson University Hospital Somerset.

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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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Biotechnology Part I - Mr Pauller - Video

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Using high-performance computing and genetic engineering to boost the photosynthetic efficiency of plants offers the best hope of increasing crop yields enough to feed a planet expected to have 9.5 billion people on it by 2050, researchers report in the journal Cell.

There has never been a better time to try this, said University of Illinois plant biology professor Stephen P. Long, who wrote the report with colleagues from Illinois and the CAS-MPG Partner Institute of Computational Biology in Shanghai.

"We now know every step in the processes that drive photosynthesis in C3 crop plants such as soybeans and C4 plants such as maize," Long said. "We have unprecedented computational resources that allow us to model every stage of photosynthesis and determine where the bottlenecks are, and advances in genetic engineering will help us augment or circumvent those steps that impede efficiency."

Substantial progress has already been made in the lab and in computer models of photosynthesis, Long said.

"Our lab and others have put a gene from cyanobacteria into crop plants and found that it boosts the photosynthetic rate by 30 percent," he said.

Photosynthetic microbes offer other clues to improving photosynthesis in plants, the researchers report. For example, some bacteria and algae contain pigments that utilize more of the solar spectrum than plant pigments do. If added to plants, those pigments could bolster the plants' access to solar energy.

Some scientists are trying to engineer C4 photosynthesis in C3 plants, but this means altering plant anatomy, changing the expression of many genes and inserting new genes from C4 plants, Long said.

"Another, possibly simpler approach is to add to the C3 chloroplast the system used by blue-green algae," he said. This would increase the activity of Rubisco, an enzyme that catalyzes a vital step of the conversion of atmospheric carbon dioxide into plant biomass. Computer models suggest adding this system would increase photosynthesis as much as 60 percent, Long said.

Computer analyses of the way plant leaves intercept sunlight have revealed other ways to improve photosynthesis. Many plants intercept too much light in their topmost leaves and too little in lower leaves; this probably allows them to outcompete their neighbors, but in a farmer's field such competition is counterproductive, Long said.

Studies headed by U. of I. plant biology professor Donald Ort aim to make plants' upper leaves lighter, allowing more sunlight to penetrate to the light-starved lower leaves. Computer modeling of photosynthesis also shows researchers where the traffic jams occur -- the steps that slow the process down and reduce efficiency.

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IMAGE:This photo shows University of Illinois field trials of various photosynthesis hacks. view more

CHAMPAIGN, Ill. -- Using high-performance computing and genetic engineering to boost the photosynthetic efficiency of plants offers the best hope of increasing crop yields enough to feed a planet expected to have 9.5 billion people on it by 2050, researchers report in the journal Cell.

There has never been a better time to try this, said University of Illinois plant biology professor Stephen P. Long, who wrote the report with colleagues from Illinois and the CAS-MPG Partner Institute of Computational Biology in Shanghai.

"We now know every step in the processes that drive photosynthesis in C3 crop plants such as soybeans and C4 plants such as maize," Long said. "We have unprecedented computational resources that allow us to model every stage of photosynthesis and determine where the bottlenecks are, and advances in genetic engineering will help us augment or circumvent those steps that impede efficiency."

Substantial progress has already been made in the lab and in computer models of photosynthesis, Long said.

"Our lab and others have put a gene from cyanobacteria into crop plants and found that it boosts the photosynthetic rate by 30 percent," he said.

Photosynthetic microbes offer other clues to improving photosynthesis in plants, the researchers report. For example, some bacteria and algae contain pigments that utilize more of the solar spectrum than plant pigments do. If added to plants, those pigments could bolster the plants' access to solar energy.

Some scientists are trying to engineer C4 photosynthesis in C3 plants, but this means altering plant anatomy, changing the expression of many genes and inserting new genes from C4 plants, Long said.

"Another, possibly simpler approach is to add to the C3 chloroplast the system used by blue-green algae," he said. This would increase the activity of Rubisco, an enzyme that catalyzes a vital step of the conversion of atmospheric carbon dioxide into plant biomass. Computer models suggest adding this system would increase photosynthesis as much as 60 percent, Long said.

Computer analyses of the way plant leaves intercept sunlight have revealed other ways to improve photosynthesis. Many plants intercept too much light in their topmost leaves and too little in lower leaves; this probably allows them to outcompete their neighbors, but in a farmer's field such competition is counterproductive, Long said.

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IMAGE:Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, March 25, 2015--The photo-sharing app Snapchat is not yet as popular as Facebook for social networking, but the greater privacy Snapchat may offer could motivate users to share more intimate types of content for different purposes. A new study comparing Snapchat and Facebook use and their effect on romantic relationships is published in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Cyberpsychology, Behavior, and Social Networking website until April 25, 2015.

The article "Snapchat Elicits More Jealousy Than Facebook: A Comparison of Snapchat and Facebook Use" describes a study comparing how individuals use the two social networking apps, and whether Snapchat, with which messages disappear after only a few seconds and are typically sent to a smaller number of people, affords more private communication and intimate, personal content that could evoke greater jealousy. Authors Sonja Utz and Nicole Muscanell, Knowledge Media Research Center (Tbingen, Germany), and Cameran Khalid (Glasgow University, Scotland), found that behaviors of romantic partners on Snapchat evoked higher levels of jealousy than did the same behaviors on Facebook.

"Although a small preliminary study, this is an important foray into a new communication platform," says Editor-in-Chief Brenda K. Wiederhold, PhD, MBA, BCB, BCN, Interactive Media Institute, San Diego, California and Virtual Reality Medical Institute, Brussels, Belgium. "And with the January 2015 Snapchat update, which made Best Friends Lists private, one wonders if we will now see the fire of jealousy further inflamed."

###

About the Journal

Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet and interactive technologies, plus cybertherapy and rehabilitation. Complete tables of content and a sample issue may be viewed on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Snapchat or Facebook -- which one is more likely to elicit romantic jealousy?

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Using a novel approach that homes in on rare families severely affected by autism, a Johns Hopkins-led team of researchers has identified a new genetic cause of the disease. The rare genetic variant offers important insights into the root causes of autism, the researchers say. And, they suggest, their unconventional method can be used to identify other genetic causes of autism and other complex genetic conditions.

A report on the study appears in the April 2 issue of the journal Nature.

In recent years, falling costs for genetic testing, together with powerful new means of storing and analyzing massive amounts of data, have ushered in the era of the genomewide association and sequencing studies. These studies typically compare genetic sequencing data from thousands of people with and without a given disease to map the locations of genetic variants that contribute to the disease. While genomewide association studies have linked many genes to particular diseases, their results have so far failed to lead to predictive genetic tests for common conditions, such as Alzheimer's, autism or schizophrenia.

"In genetics, we all believe that you have to sequence endlessly before you can find anything," says Aravinda Chakravarti, Ph.D. , a professor in the Johns Hopkins University School of Medicine's McKusick-Nathans Institute of Genetic Medicine. "I think whom you sequence is as important -- if not more so -- than how many people are sequenced."

With that idea, Chakravarti and his collaborators identified families in which more than one female has autism spectrum disorder, a condition first described at Johns Hopkins in 1943. For reasons that are not understood, girls are far less likely than boys to have autism, but when girls do have the condition, their symptoms tend to be severe. Chakravarti reasoned that females with autism, particularly those with a close female relative who is also affected, must carry very potent genetic variants for the disease, and he wanted to find out what those were.

The research team compared the gene sequences of autistic members of 13 such families to the gene sequences of people from a public database. They found four potential culprit genes and focused on one, CTNND2, because it fell in a region of the genome known to be associated with another intellectual disability. When they studied the gene's effects in zebrafish, mice and cadaveric human brains, the research group found that the protein it makes affects how many other genes are regulated. The CTNND2 protein was found at far higher levels in fetal brains than in adult brains or other tissues, Chakravarti says, so it likely plays a key role in brain development.

Specifically, mutations in CNNTD2 disrupted the connections called synapses that form among brain cells. "This is consistent with recent findings that many gene mutations associated with autism are involved in synapse development," says Richard Huganir, Ph.D. , director of the Solomon H. Snyder Department of Neuroscience, who participated in the research. "The results of this study add to the evidence that abnormal synaptic function may underlie the cognitive defects in autism."

While autism-causing variants in CTNND2 are very rare, Chakravarti says, the finding provides a window into the general biology of autism. "To devise new therapies, we need to have a good understanding of how the disease comes about in the first place," he says. "Genetics is a crucial way of doing that."

Chakravarti's research group is now working to find the functions of the other three genes identified as possibly associated with autism. They plan to use the same principle to look for disease genes in future studies of 100 similar autism-affected families, as well as other illnesses. "We've shown that even for genetically complicated diseases, families that have an extreme presentation are very informative in identifying culprit genes and their functions -- or, as geneticists are taught, 'treasure your exceptions.'" Chakravarti says.

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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.

###

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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Newswise (New York March 25, 2015) Induced pluripotent stem cells (iPSCs)adult cells reprogrammed back to an embryonic stem cell-like statemay 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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Mount Sinai Researchers Discover Genetic Origins of Myelodysplastic Syndrome Using Stem Cells

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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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In A Genetic Portrait Of A Nation, A Map Of The Future

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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

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 61
Make sure to leave baby names in the comments!. #VampireClan #VampireClan4Life.

By: vampiregirl101101101

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Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 61 - Video

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Posing - Iron-Genetics - Tolga Gn
Das letzte Video fr diese Definitionsphase, bin von knapp 80 kg auf knapp 75 kg gekommen, nun geht es wieder in den Aufbau. Ich bedanke mich bei allen Abonnenten die dazu gekommen sind und...

By: Iron-Genetics

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Posing - Iron-Genetics - Tolga Gn - Video

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Mower Genetics - Chilli papriky

By: Mower Genetics

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Mower Genetics - Chilli papriky - Video

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Big Dans Genetics in the house
18 and older medical marijuana channel Big Dans Cookie Monster.

By: Maine420medgrower

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Big Dans Genetics in the house - Video

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Lets Play The Sims 3 Perfect Genetics Part 18: Driving Lessons!
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Lets Play The Sims 3 Perfect Genetics Part 18: Driving Lessons! - Video

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Lets Play The Sims 3 100 Baby/ Perfect Genetics Part 24:
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Mindy H. Li, M.D., was honored as the 2015 recipient of the ACMG Foundation/PerkinElmer diagnostics Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah

BETHESDA, MD -March, 26 2015| Mindy H. Li, MD was honored as the 2015 recipient of the ACMG Foundation/PerkinElmer diagnostics Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

Dr. Li was selected to receive the award for her platform presentation, "Phenotype Capture and Utilization of a Common Electronic Health Record System to Evaluate Pediatric Individuals with Intellectual Disability Undergoing Exome Sequencing."

Dr. Li completed her MD at University of Illinois at Chicago, her Residency in Pediatrics at University of California, San Diego and Rady Children's Hospital, then completed her Residency in Medical Genetics at University of Pennsylvania and Children's Hospital of Philadelphia. She is currently completing her Postdoctoral Research Fellowship and is the Genetics Chief Resident at University of Pennsylvania and Children's Hospital of Philadelphia. Dr. Li received her Bachelor of Arts in in Spanish and her Bachelor of Science in Biological Sciences at University of Illinois at Chicago.

This award was created in 2008 by Signature Genomics to recognize an ACMG member, and first author of a platform presentation abstract for the scientific program. The ACMG Program Committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, PerkinElmer Diagnostics covers the travel costs for the recipient to the ACMG meeting.

"The ACMG Foundation for Genetic and Genomic Medicine is grateful to PerkinElmer Diagnostics for its continued generous support of the development of medical genetic researchers through this Travel Award," said Bruce R. Korf, MD, PhD FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine.

###

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 in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics; mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301/718-2014.

Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

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2015 ACMG Foundation/PerkinElmer Diagnostics Travel Award winner announced

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NEW YORK (TheStreet) -- The next investor referendum on the resurgent gene-therapy field will arrive next month whenCelladon (CLDN)is expected to announce results from a mid-stage study of a gene therapy aimed atimproving the heart's pumping ability in patients suffering fromthe organ's advanced failure.

Gene therapy uses engineered viruses to replace defective, disease-causing genes. Celladon's lead therapy, Mydicar, is a virus engineered to insert a working gene capable of producing a protein called SERCA2a into heart-failure patients. SERCA2a is responsible for helping heart muscles contract and pump blood more efficiently. Heart-failure patients have low levels of SERCA2a and hearts that do a poor job pumping blood around the body. Celladon believes infusing Mydicar should lead to higher SERCA2a levels and improved heart function.

Must Read: 5 Stocks Warren Buffett Is Selling

Celladon went public in January 2014 at $8 per share. The stock was tradingat $24.10, down 1.8%, on Wednesday morning, after rising by more than 30% in March as investors anticipate the Mydicar study results.

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Celladon Heart-Failure Study Looms Large as Next Big Test for Gene Therapy

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A simulation from the Neitz lab of what colorblindness looks like, with normal color vision on the left and red-green colorblindness on the right. Courtesy of Neitz Laboratory hide caption

A simulation from the Neitz lab of what colorblindness looks like, with normal color vision on the left and red-green colorblindness on the right.

More than 10 million Americans have trouble distinguishing red from green or blue from yellow, and there's no treatment for colorblindness.

A biotech company and two scientists hope to change that.

On Wednesday, Avalanche Biotechnologies in Menlo Park and the University of Washington in Seattle announced a licensing agreement to develop the first treatment for colorblindness. The deal brings together a gene therapy technique developed by Avalanche with the expertise of vision researchers at the University of Washington.

"Our goal is to be treating colorblindness in clinical trials in patients in the next one to two years," says Thomas Chalberg, the founder and CEO of Avalanche.

Dalton the squirrel monkey during the color vision test. Courtesy of Neitz Laboratory hide caption

Dalton the squirrel monkey during the color vision test.

The agreement has its roots in a scientific breakthrough that occurred six years ago. That's when two vision researchers at the University of Washington used gene therapy to cure a common form of colorblindness in squirrel monkeys.

"This opened the possibility of ultimately getting this to cure colorblindness in humans," says Jay Neitz, who runs the Color Vision Lab at UW along with his wife, Maureen Neitz.

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University And Biotech Firm Team Up On Colorblindness Therapy

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A federal public servant has lost a legal bid to have taxpayers pay for experimental stem cell treatment on his dodgy knees.

The Administrative Appeals Tribunal has knocked back an appeal by Customs officer Vic Kaplicas to force insurer Comcare to pay $13,400 for the new treatment, instead saying he could have a tried-and-tested double knee replacement.

But the 49-year-old border official says he worries he cannot pass his department's fitness tests if he undergoes the knee replacements, which will leave him unable to run.

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The former triathlete, who had to give up his sport because of his bad knees, said he was keen to avoid the "radical but effective" replacements for as long as possible.

Mr Kaplicas hurt his left knee working at Sydney's Mascot Airport in 2000, then injured his right knee 10 years later at Kingsford-Smith.

He managed the pain in his knees, which have since developed osteoarthritis, for years using over-the-counter painkillers, physio, exercises and injections but Mr Kaplicas' doctors say a more permanent solution is now needed.

In June 2012, Sydney knee specialist Sam Sorrenti asked Comcare to pay for bilateral knee stem cell assisted arthroscopic surgery for Mr Kaplicas.

The cost of the procedure was estimated at $13,464.00 for arthroscopy, stem cell harvesting and injection, and a "HiQCell procedure".

Dr Sorrenti said the knee replacements were not a good idea for a man of Mr Kaplicas' age, arguing the new knees would last 15 years at best, were intended for older people who are less concerned with physical activity, and left no further options.

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Jayne Morrow, who suffers from multiple sclerosis, with her husband David.

A MUM-OF-THREE who suffers from a debilitating neurological condition could soon be making a life-changing journey to Russia.

Jayne Morrow, 47, from Ilfracombe, was diagnosed with multiple sclerosis (MS) eight years ago and has been battling the worsening effects of the condition ever since.

For Jayne, who suffers from chronic fatigue and numbness in her hand and torso, this has meant giving up her job as a personal trainer and forfeiting her driving licence.

In a bid to combat the condition, Jayne has now secured a place at a Russian clinic, where she will undergo a stem cell treatment known as HSCT.

Although the treatment is available on the NHS, it is currently only offered to those in the advanced stages of MS.

"Time isn't on my side," Jayne said. "I need it quite quickly everyone who suffers from MS does because it's a progressive illness.

"I don't want to be a burden to anybody. I can see in time being a complete write off."

More than 100,000 people in the UK are thought to suffer from MS. Although it is not fatal, for those living with the condition it can cause the loss of vision, extreme muscle spasms and loss of balance.

For Jayne, who lives in Ilfracombe, dealing with the consequences of the condition has proved difficult.

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Multiple sclerosis treatment on the cards for Ilfracombe mother

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Newswise March 24, 2015, NATIONAL HARBOR, Md. - Mesenchymal stem cell (MSC) transplantation reduced opioid tolerance and opioid-induced hyperalgesia caused by daily morphine injections in rats, according to new research. The results could herald stem cell transplantation as an innovative, safe, efficacious and cost-effective therapy to treat pain and opioid tolerance, said researchers, who presented results in a Plenary Research Highlight session at the 31st Annual Meeting of the American Academy of Pain Medicine.

Not only was opioid tolerance prevented when the rats were transplanted with MSC before repeated morphine injections, but tolerance was reversed when the rats were treated after opioid tolerance had developed, results demonstrated.

MSCs have a remarkable anti-inflammatory effect and a powerful anti-tolerance effect, said the studys principal investigator, Jianguo Cheng, M.D., Ph.D., who led the research team from the Cleveland Clinic, in Ohio. Although clinical trials are still three to five years away, he said, eventually, The results may apply to millions of patients with a wide range of pain states, including cancer pain and other intractable chronic pain that requires long-term opioid therapy.

Furthermore, Cheng characterized the procedure as practical, in light of readily available sources of stem cells, reliable stem cell technology, the simplicity of transplantation procedures and the fact that clinical trials are already underway involving autoimmune and other diseases.

The Institute of Medicine report on pain in America documented millions who suffer with chronic pain (Relieving Pain in America: A Blueprint for Transforming Prevention, Care, Education, and Research. National Academies Press [US]; 2011). Opioid therapy is a cornerstone component of pain management for many people with severe, ongoing pain; however, side effects such as tolerance and the risks posed by abuse, addiction and drug overdose limit its utility. Tolerance, a physiologic process in which the patients body adjusts to a dose and no longer achieves pain relief, is a common limitation with opioid therapy. The higher doses that result can limit effectiveness and compromise safety.

Glial cells are of growing interest in pain research and have been implicated in the development of tolerance. Glial cell activity also produces pain through the release of products that excite the nervous system, playing an important role in the spinal cord during nerve injury. Furthermore, the opioids used to treat pain, also can induce glial activity, causing pain relief to drop and unwanted opioid effects, including tolerance, dependence, reward and decreased breathing, to grow. A focus of research, then, is to separate the desired effect of pain relief from the unwanted opioid effects (Watkins et al, Trends in Pharmacological Sciences 2009;30(11): 581-91).

Interest in transplant of stem cells is another maturing research avenue (Hsu et al, Cell Transplant 2007;16(2):133-50). MSCs can differentiate into a variety of cell types and have been investigated for potential repair of damaged neural cells and for calming inflammation in the immune system to promote recovery after traumatic brain injury (Zhang et al, J Neuroinflammation 2013;10(1):106).

Following this line of research, the study investigators wondered whether they could create an anti-tolerance therapy by transplanting MSCs into the intrathecal space surrounding the spinal cord. With approval by the Cleveland Clinic Institutional Animal Care and Use Committee and funding through the Department of Defenses Congressionally Directed Medical Research Programs, they compared the withdrawal thresholds of the hind paws in response to painful mechanical and thermal stimuli in two groups of rats that received daily morphine injections. The first group was treated with MSC transplantation and the control group with phosphate-buffered saline (PBS).

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Cleveland Clinic Researchers First to Demonstrate Significant Blocking of Opioid Tolerance With Mesenchymal Stem Cell ...

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