Jan. 22, 2013 A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software. The software, called ParseCNV, is freely available to the scientific-academic community, and significantly advances the identification of gene variants associated with genetic diseases.

"The algorithm we developed detects copy number variation associations with a higher level of accuracy than that available in existing software," said the lead inventor of ParseCNV, Joseph T. Glessner, of the Center for Applied Genomics at The Children's Hospital of Philadelphia. "By automatically correcting for variations in the length of deleted or duplicated DNA sequences from one individual to another, ParseCNV produces high-quality, highly replicable results for researchers studying genetic contributions to disease."

Glessner is the lead author of a study describing ParseCNV, published Jan. 4 in Nucleic Acids Research.

Copy number variations (CNVs) are particular sequences of DNA, ranging in length from 1000 to millions of nucleotide bases, which may be deleted or duplicated. While in any given region of a person's DNA, CNVs are very rare, everyone's genome has CNVs, many of which play important roles in causing or influencing disease.

In searching for associations between CNVs and diseases, researchers typically perform case-control studies, comparing DNA samples from patients to DNA from healthy individuals, looking for telltale differences in how CNVs are overrepresented or underrepresented.

CNVs, however, occur in multiple types among individuals, said senior author Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. "One person may have a 60-kilobase deletion, while another may have a 100-kilobase deletion; that may determine the difference between a healthy state versus disease. Many CNV detection softwares may misread the boundary of a CNV region, which could lead to a misclassification and result in false-positive or false-negative associations."

ParseCNV is designed with built-in corrections to adjust for these size variations and other red flags that confound results. Using polymerase chain reaction testing to validate the initial findings, the study team determined that the software had called 90 percent of the CNVs accurately -- a better rate than conventional CNV association softwares, which typically produce validation rates that are notably lower.

The authors say the program's comprehensive design, statistical capabilities, and quality-control features lend it versatility, applicable not just to case-control studies, but also to family studies, and quantitative analyses of continuous traits, such as obesity or height.

Glessner says the Center for Applied Genomics team will continue to refine ParseCNV's features as CNV research progresses. Hakonarson adds that the ParseCNV algorithm will advance genomic diagnostics: "It is likely to play a future key role as a research tool in improving detection of CNV association in individual patients enrolled in disease studies -- perhaps through an initial diagnostic screen, to be followed up with a CLIA-certified laboratory test."

An Institutional Development Award from The Children's Hospital of Philadelphia supported this research, along with the Cotswold Foundation and a donation from Adele and Daniel Kubert. The third co-author, also from the Children's Hospital genome center, was Jin Li.

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Novel gene-searching software improves accuracy in disease studies

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Jan. 22, 2013 Scientists have identified genetic circumstances under which common mutations on two genes interact in the presence of cocaine to produce a nearly eight-fold increased risk of death as a result of abusing the drug.

An estimated one in three whites who died of cocaine exposure is a carrier of variants that make cocaine abuse particularly deadly.

The variants are found in two genes that affect how dopamine modulates brain activity. Dopamine is a chemical messenger vital to the regular function of the central nervous system, and cocaine is known to block transporters in the brain from absorbing dopamine after its release.

The same dopamine genes are also targeted by medications for a number of psychiatric disorders. The researchers say that these findings could help determine how patients will respond to certain drugs based on whether they, too, have mutations that interact in ways that affect dopamine flow and signaling.

The scientists had previously identified a total of seven mutations on two dopamine-related genes, some of which were linked to the risk for cocaine abuse death. Years of molecular genetics studies showed that the mutations had specific functions -- a single variant alone was associated with an almost three-fold increase in risk of dying of cocaine abuse -- and led researchers to hypothesize that the variants probably interacted because the genes themselves relied on each other for proper function.

A statistical analysis that dissected the complex interactions among the variants combined with cocaine exposure revealed gene-gene-environment interactions that would dramatically increase the risk of death from cocaine abuse.

"Finding an impact factor of 8 just blew us away," said Wolfgang Sadee, professor of pharmacology and director of the Program in Pharmacogenomics at Ohio State University and senior author of the study. "Beyond that, this represents a new paradigm. Going forward, we can ask whether such interactions do exist between variants that may be a normal variation in the population. These kinds of interactions may underlie the genetics of behavior."

These specific findings apply primarily to whites. The researchers found that a different combination of variants affect the risk of cocaine abuse death in African Americans, and that in this population, some of the variants had protective properties.

The research is published in the online journal Translational Psychiatry.

The mutations are mostly single-nucleotide polymorphisms, or SNPs (pronounced "snips"). Each gene contains two alternative forms -- called alleles -- that are functionally identical in most people. However, in some cases, the activity level, or expression, of an allele can differ from its partner allele in a single gene.

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Gene interactions make cocaine abuse death eight times more likely

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IB Genetic Engineering Biotechnology Part 2
Discussion of Cloning, Genetically Modified Organisms, Nuclear Transplantation, Gene Transfer between organisms.

By: Dan Rott

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IB Genetic Engineering

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Space Hacker Alpha
An early version of a mobile game I #39;m creating. You #39;re a hacker that #39;s had your mind swapped into a purple octopus(or sextopus, damn Genetic Engineering), sent into orbit to hack computer systems around the globe from the comfort of your own satellite. Over the course of the game you get increasingly difficult jobs, to complete the jobs, first you must successfully connect to a computer, then you are presented with a hacking screen, which you have to get a number of file symbols in a row to complete the job, all without getting traced, if you get traced you fail the job and don #39;t receive the reward, when you succeed you will earn valuable cash to upgrade in the way you see fit to complete new hacking jobs. Through various upgrades you can increase your Hacking (which dictates how fast you hack Level of server you can connect to), your Programming (decreases chance of alarm) Luck (increases chance of bonus) Alpha 0.01

By: Daniel Whyte

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Space Hacker Alpha - Video

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Genetic Engineering Video
Filming

By: DarkRCT

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Genetic Engineering Video - Video

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2012 Biometric Lexicon of Cognitive States - Iasi Romania
Joe Ferguson presents his ideas about machines reading human minds at the Humascend 2012 conference in Iasi, Romaina, where his buddy Adrian Stoica held a conference on Robotics, Cyborgs, Genetic Engineering and Orthopedic surgery in his home town in Romania for Joe #39;s entertainment during his visit to Romania with Adrian. Briefly, the history of biometric signal analysis has peaked at the lie detector, which nobody really trusts but which has clear psychological advantages under interrogation. But the indisputable reality of body language, prosody and other nonverbal and involuntary communication channels reveal the possibility of reading some higher level cognitive states from involuntary biometric information.

By: Joe Ferguson

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2012 Biometric Lexicon of Cognitive States - Iasi Romania - Video

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Online narrated tutorial suite teaches you how to effectively and efficiently use OMIM

Seattle, WA (PRWEB) January 22, 2013

OMIM is a catalog of human genes and genetic conditions that helps researchers and clinicians understand the relationship between genes and genetic disease. OMIM is a foundational resource in genomics, and OMIM links and data are found at sites all around the bioinformatics sphere. Knowledge of the full scope of OMIMs data and resources provides access to the most comprehensive understanding of human phenotypes and disease. OMIM contains full text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well.

The new tutorial reflects the many changes and enhancements to OMIM, including the new face it received during the move from NCBI to omim.org. New search functions enable more precise and relevant searches for different user communities, including clinical geneticists, genetic counselors, and basic researchers. In addition, OMIM now has more links to other relevant genetics and biomedical research resources around the world.

The online narrated tutorial runs in just about any browser and can be navigated in a number of ways. In just under 30 minutes, the tutorial highlights and explains the features and functionality needed to start using OMIM effectively. The tutorial can be used as an introduction to the catalog of human genes and genetic disorders, as a quick way to view new features and functionality, or simply as a reference tool to understand specific features.

In addition to the tutorial, users can also access training and teaching materials, including the animated PowerPoint slides that serve as a basis for the tutorial, suggested script for the slides, slide handouts, and exercises. This can save a tremendous amount of time and effort for teachers and professors when creating classroom content.

Users can view the tutorials and download the free materials at http://www.openhelix.com/omim.

About OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The free-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. OMIM entries contain copious links to other genetics resources. OMIM is funded by a grant from the National Human Genome Research Institute (NHGRI).

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OpenHelix Announces an Updated Sponsored Tutorial and Training Materials for Online Mendelian Inheritance in Man (OMIM)

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Public release date: 22-Jan-2013 [ | E-mail | Share ]

Contact: Bruce Goldman goldmanb@stanford.edu 650-725-2106 Stanford University Medical Center

STANFORD, Calif. Stanford University School of Medicine investigators have found that for people harboring a genetic predisposition that is prevalent among Americans, beta carotene, which the body converts to a close cousin of vitamin A, may lower the risk for the most common form of diabetes, while gamma tocopherol, the major form of vitamin E in the American diet, may increase risk for the disease.

The scientists used a "big data" approach to hunt down interactions between gene variants previously associated with increased risk for type-2 diabetes and blood levels of substances previously implicated in type-2 diabetes risk. In people carrying a double dose of one such predisposing gene variant, the researchers pinpointed a highly statistically significant inverse association of beta carotene blood levels with type-2 diabetes risk, along with a suspiciously high positive association of gamma tocopherol with risk for the disease.

"Type-2 diabetes affects about 15 percent of the world's population, and the numbers are increasing," said Atul Butte, MD, PhD, associate professor of systems medicine in pediatrics. "Government health authorities estimate that one-third of all children born in the United States since the year 2000 will get this disease at some point in their lives, possibly knocking decades off their life expectancies."

Butte is the senior author of the new study, which will be published online Jan. 22 in Human Genetics. The first author, Chirag Patel, PhD, is a former graduate student in Butte's lab and now a postdoctoral scholar at the Stanford Prevention Research Center.

The findings point the way to further experiments that could establish whether beta carotene and gamma tocopherol are, respectively, protective and harmful themselves, or merely "markers" whose blood levels dovetail with the presence or absence of some other substance, process or defect that is a true causal factor.

Moreover, the fact that both beta carotene and gamma tocopherol interact with the same gene variant to influence diabetes risk, albeit in opposite directions, suggests that the protein the gene called, SLC30A4, codes for may play a crucial role in the disease. Indeed, that protein is relatively abundant in insulin-producing islet cells of the pancreas, where it aids the transport of zinc into those cells. This, in turn, triggers the release of insulin, whose adequate secretion by the pancreas and efficient uptake in muscle, liver and fat tissue counters the dangerous buildup of glucose in the blood and, in the long run, the onset of type-2 diabetes.

The genomes of some 50 to 60 percent of the U.S. population carry two copies of that very gene variant, which previous studies have shown to confer a slightly increased risk of contracting type-2 diabetes. This variant was one of 18, each found by other researchers to have a mild association with type-2 diabetes risk, that the Butte team incorporated into its analysis.

These gene/disease connections had been identified via so-called "genome-wide association studies," or GWAS. In such analyses, the genomes of large numbers of people with a disease are compared with those of people without it to see if certain versions of any gene variants occur with substantially greater frequency in one group than in the other.

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Beta carotene may protect people with common genetic risk factor for type-2 diabetes

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Cancer Risk Factors - The Risk Factors of Cancer
Cancer Risk Factors. http://www.CancerUncensored.com Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I would like to present you with an overview of cancer. I am going to briefly go over exactly what cancer is, what triggers it, what the symptoms are, how you can actively avoid it. We will also go over current treatment methods and alternative medicine. I #39;ll also tell you where you should go to get the most up-to-date news and advancements. Before we get stuck in, I should address two points Firstly, most people are afraid of cancer. I can understand that, as my wife has recently been diagnosed with cancer, but as a society, we must not allow the dread of the disease stop us from taking steps to understand it, because that way we can actively prevent it. One in three of us will be diagnosed with cancer during our lifetimes, and yet 85% of cancer is preventable! This video, and my book, cancer uncensored, can tell you how. So take in as much of this information as you can, because it could save your life. Secondly, you need to realise that cancer is not entirely understood. We have a number of very solid theories, and a lot of study data, but if cancer was fully understood, we might be even closer to a cure. To quote Thomas Edison, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and ...

By: CancerUncensored

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Cancer Risk Factors - The Risk Factors of Cancer - Video

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Cancer Symptoms - Symptoms of Cancer
Cancer Symptoms. http://www.CancerUncensored.com. Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I want to give you an overview of cancer. I am going to briefly talk about what cancer is, what triggers it, what the symptoms are, how you can actively avoid it. We #39;ll also go over current treatment options and alternative treatment. I #39;m going to also tell you where you can go to get the most up-to-date news and breakthroughs. Before we get stuck in, I ought to address two points Firstly, people are afraid of cancer. I can fully understand that, as my wife has cancer, but as a society, we must not let the dread of the disease stop us from taking steps to understand it, because that way we can actively prevent it. One in three of us will be diagnosed with cancer during our lifetimes, yet 85% of cancer is avoidable! This video, and my book, cancer uncensored, will tell you how. So take in as much of this data as you can, because it could save your life. Secondly, you need to realise that cancer isn #39;t entirely understood. We have a number of very solid theories, and lots of study data, but if cancer was fully understood, we might be closer to a cure. As Thomas Edison once said, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and prevent disease with nutrition." But as things currently ...

By: CancerUncensored

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Cancer Symptoms - Symptoms of Cancer - Video

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Cancer Therapy - Therapy for Cancer
Cancer Therapy. http://www.CancerUncensored.com. Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I would like to present you with an overview of cancer. I #39;m going to briefly talk about exactly what cancer is, what triggers it, what the symptoms are, how you can avoid it. We #39;ll also go over current treatment procedures and alternative treatment. I #39;m going to also let you know where you can go to get the most up-to-date news and breakthroughs. Before we get stuck in, I ought to address two points Firstly, people are afraid of cancer. I can fully understand that, as my wife has cancer, but as a society, we must not allow the fear of the condition stop us from taking steps to understand it, because that way we can actively prevent it. One in three of us will be diagnosed with cancer within our lifetimes, yet 85% of cancer is preventable! This video, and my book, cancer uncensored, can tell you how. So take in as much of this information as you can, because it could save your life. Secondly, you must understand that cancer is not entirely understood. We have quite a few very solid theories, and lots of study data, but if cancer was fully understood, we would be even closer to a cure. As Thomas Edison once said, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and prevent disease with ...

By: CancerUncensored

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Cancer Therapy - Therapy for Cancer - Video

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How Do You Get Cancer?
How Do You Get Cancer? http://www.CancerUncensored.com. Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I would like to give you an overview of cancer. I am going to briefly go over what cancer is, what causes it, what the symptoms are, what you can do to actively avoid it. We will also go over current treatment methods and alternative medicine. I #39;ll also tell you where you should go to get the most up-to-date news and advancements. Before we get stuck in, I should address two points Firstly, people are afraid of cancer. I can fully understand that, as my wife has recently been diagnosed with cancer, but as a society, we must not let the dread of the disease prevent us from taking steps to understand it, as that way we can actively prevent it. One in three of us will be diagnosed with cancer during our lifetimes, yet 85% of cancer is preventable! This video, and my book, cancer uncensored, can tell you how. So take in as much of this data as you can, because it could save your life. Secondly, you need to realise that cancer is not entirely understood. We have a number of very solid theories, and lots of study data, but if cancer was fully understood, we would be closer to a cure. To quote Thomas Edison, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and prevent disease with ...

By: CancerUncensored

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How Do You Get Cancer? - Video

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Prevention Of Cancer - Cancer Prevention
Prevention Of Cancer. http://www.CancerUncensored.com. Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I want to present you with an overview of cancer. I am going to briefly talk about exactly what cancer is, what causes it, what symptoms there are, what you can do to prevent it. We will also go over current treatment options and alternative medicine. I #39;ll also let you know where you should go to get the most up-to-date news and breakthroughs. Before we get stuck in, I should address two points Firstly, people are terrified of cancer. I can fully understand that, as my wife has cancer, but as a society, we must not allow the dread of the disease stop us from taking steps to understand it, because that way we can actively prevent it. One in three of us will be diagnosed with cancer during our lifetimes, yet 85% of cancer is preventable! This video, and my book, cancer uncensored, will tell you how. So absorb as much of this data as you can, as it could save your life. Secondly, you need to realise that cancer is not totally understood. We have a number of very solid theories, and a lot of study data, but if cancer was fully understood, we would be closer to a cure. To quote Thomas Edison, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and prevent disease with nutrition." But as ...

By: CancerUncensored

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Prevention Of Cancer - Cancer Prevention - Video

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Introduction To Genetics and Heredity
This video discusses the basics of genetics and heredity. It discusses why offspring have shared characteristics and the role alleles play in that. It also reviews the basics of Mendelian genetics addressing the differences between purebreeds and hybrids and dominant and recessive alleles. You will be shown how to fill out a Punnett Square and how to read it.

By: mrfox218

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Introduction To Genetics and Heredity - Video

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Signs Of Cancer - Cancer Signs
Signs Of Cancer. http://www.CancerUncensored.com. Welcome to today #39;s issue of cancer uncensored. Hi, I #39;m Chris, and I am the author of cancer uncensored, a step-by-step guide to cancer prevention, early detection and cancer survival. In today #39;s video,I want to present you with an overview of cancer. I am going to briefly go over what cancer is, what triggers it, what symptoms there are, what you can do to actively avoid it. I #39;ll also go over current treatment methods and alternative medicine. I #39;m going to also tell you where you can go to get the most up-to-date news and breakthroughs. Before we get stuck in, I #39;d like to address two points Firstly, people are terrified of cancer. I can fully understand that, as my wife has recently been diagnosed with cancer, but as a society, we mustn #39;t allow the dread of the condition prevent us from taking steps to understand it, as that way we can actively prevent it. One in three of us will be diagnosed with cancer within our lifetimes, yet 85% of cancer is preventable! This video, and my book, cancer uncensored, can tell you how. So take in as much of this information as you can, because it could save your life. Secondly, you need to realise that cancer isn #39;t fully understood. We have quite a few very solid theories, and a lot of study data, but if cancer was fully understood, we might be even closer to a cure. To quote Thomas Edison, "The doctor of the future will no longer treat the human frame with drugs, but rather will cure and ...

By: CancerUncensored

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Signs Of Cancer - Cancer Signs - Video

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chernobyl week 5
really bad quality sorry not the plant but the video. tga genetics

By: jeffry blodem

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chernobyl week 5 - Video

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plushberry #1 TGA Genetics week6
sorry about the quality of the video.will be hd in a couple months or so.

By: jeffry blodem

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plushberry #1 TGA Genetics week6 - Video

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genetics: first draft
stop motion animation. first cut.

By: elyssa bulger

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genetics: first draft - Video

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Company Scientists featured on Discovery Channel
Featuring Nu Skin Scientists: Joseph Chang, Ph.D., Chief Scientific Officer, Vice President of Product Development Jia-Shi (Josh) Zhu, Ph.D., Senior Director of Pharmacology and Clinical Affairs Richard Weindruch, Ph.D., Co-founder, LifeGen Technologies, Professor of Geriatrics and Gerontology, University of Wisconsin Department of Medicine Tomas A. Prolla, Ph.D, Co-founder, LifeGen Technologies, Professor, departments of Genetics and Medical Genetics, University of Wisconsin To view our company #39;s Scientific Advisory Board, see bit.ly

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Company Scientists featured on Discovery Channel - Video

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2008 Petite Sirah Video Tasting Notes
Winemaker Robert Foley discusses the Terroir, Vinification, Flavor Profile, and Cellar-ability of his 2008 Petite Sirah -- a dark and inky combination of Valley Floor and Mountain fruit that will, as Bob says, "tattoo you from the inside out." For lovers of big, extracted red wines, packed with flavor and fine tannins, this is the variety for you! Not to be con- fused with Syrah... Petite Sirah was originally discovered by a French botanist Francois Durif, working at the Montpel- lier Viticultural Institute in southern France. He found this variety growing in a Peloursin vineyard and discovered that it had good resistance to downy mildew and named it for himself, Durif. Unfortunately, the tight clusters were prone to bunch rot and the wines that were produced were considered too big and tannic for the French palate and the variety was eliminated and is no longer found in France. It did make its way to California and other parts of the world where it is known as Petite Sirah. There is nothing "petite" about it -- even the berries are very large and the wines can be enormous. The key to user friendliness is patience to allow the seeds to ripen, allowing the tannins to relax. Through genetics, it was determined that this variety was the result of pollination of a Peloursin flower with Syrah pollen. With Petite Sirah mountain and valley-floor vineyards pro- ducing remarkably different character in recent vintages, we just had to celebrate these different personalities and ...

By: RobertFoleyVineyards

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2008 Petite Sirah Video Tasting Notes - Video

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the flav trimmed.mov
TGA Genetics The Flav

By: vlr12285

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the flav trimmed.mov - Video

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North Cobb High School Genetics Mitosis Lab

By: lovemoe001

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North Cobb High School Genetics Mitosis Lab - Video

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Gene predicts cancer development, BYU study finds

By Celeste Tholen Rosenlof

January 22nd, 2013 @ 8:22pm

PROVO A team of Brigham Young University researchers has identified a gene that could predict a cancer patient's chance of survival.

BYU biology professor David Bearss and co-author of the BYU-University of Iowa study found that a handful of genes in a tumor can predict how the cancer will progress and how patients will respond to therapy throughout the cancer's progression.

Bearss and his colleagues, including a team of BYU undergraduate students, studied 19 multiple myeloma cancer patients by taking biopsied cell samples throughout their cancer treatment and looking at them on the genetic level.

Multiple myeloma is a cancer that transforms white blood cells in bone marrow and destroys its function. About 20,000 people in the U.S. are diagnosed with the disease each year, resulting in about 11,000 deaths, Bearss said.

"We're still not very good at treating it, is the bottom line," he said.

Bearss set out to understand what happens to the cancerous cells at a genetic level throughout treatment. He found that a set of genes or markers consistently and dramatically changed as patients became resistant to therapy. Moreover, they found that one gene called NEK2, is a predictor of poor therapy response in multiple myeloma patients.

That, Bearss said, is a big breakthrough for patients and doctors faced with treatment decisions.

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Gene predicts cancer development, BYU study finds

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AMSTERDAM, January 22, 2013 /PRNewswire/ --

uniQure B.V., the leader in the field of human gene therapy, today announced the appointment of Philip Astley-Sparke, former President and CEO of BioVex, as President US to provide strategic leadership and help build uniQure's clinical, regulatory, and commercial infrastructure in the US.

Since May 2012, Philip is a venture partner at Forbion Capital Partners, uniQure's largest investor. As a venture partner he works with selected portfolio companies to help management execute on their business plans. Philip served as Vice President and General Manager at Amgen, Inc. until December 2011, following the acquisition of BioVex, Inc. in March 2011. Philip had been President and CEO of BioVex since 2005, during which he achieved several milestones for the company: its relocation from the UK to the US, the formation of a commercial grade manufacturing facility and nascent commercial capabilities, and the successful negotiation with Amgen to acquire BioVex for up to $1bn. BioVex focused on the development of pioneering first-in-class oncolytic vaccines. Prior to BioVex, Philip was an investment banker with JP Morgan H&Q (Robert Fleming) where he advised on a number of high profile mergers and public financings. He qualified as a Chartered Accountant with Arthur Andersen in London and holds a Bachelor's Degree in Cellular Pathology and Molecular Pathology from Bristol University (UK).

"Philip's experience and expertise will be invaluable in building a successful US infrastructure for uniQure," says Jrn Aldag, CEO of uniQure. "He is to devote an important part of his time to uniQure, and will become a key member of our management team. We look forward to establishing a foothold in the US, and developing uniQure to full commercial maturity."

About uniQure

uniQure is a world leader in the development ofhuman gene based therapies.uniQure's Glybera, a gene therapy for the treatment of lipoprotein lipase deficiency has been approved in the European Union, and is the first approved gene therapy in the Western world. uniQure's product pipeline of gene therapy products in development comprise hemophilia B, acute intermittent porphyria, Parkinson's disease and SanfilippoB. Using adeno-associated viral (AAV) derived vectors as the delivery vehicle of choice for therapeutic genes, the company has been able to design and validate probably the world's first stable and scalable AAV manufacturing platform.This proprietary platform can be applied to a large number of rare(orphan) diseases caused by one faulty gene. uniQure's largest shareholders are Forbion Capital Partners and Gilde Healthcare, two of the leading life sciences venture capital firms in the Netherlands. Further information can be found at http://www.uniqure.com.

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uniQure Appoints Philip Astley-Sparke President US

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Jan. 21, 2013 Independent clinical trials, including one conducted at the Scheie Eye Institute at the Perelman School of Medicine, have reported safety and efficacy for Leber congenital amaurosis (LCA), a congenital form of blindness caused by mutations in a gene (RPE65) required for recycling vitamin A in the retina. Inherited retinal degenerative diseases were previously considered untreatable and incurable. There were early improvements in vision observed in the trials, but a key question about the long-term efficacy of gene therapy for curing the retinal degeneration in LCA has remained unanswered.

Now, new research from the Scheie Eye Institute, published this week in the Proceedings of the National Academy of Sciences, finds that gene therapy for LCA shows enduring improvement in vision but also advancing degeneration of affected retinal cells, both in LCA patients and animal models of the same condition.

LCA disease from RPE65 mutations has two-components: a biochemical blockade leading to impaired vision, and a progressive loss of the light-sensing photoreceptor cells throughout life of the affected patient. The authors of the new study explain that until now gene therapy has been optimistically assumed, but not proven, to solve both disease components at the same time.

"We all hoped that the gene injections cured both components -- re-establishing the cycle of vision and also preventing further loss of cells to the second disease component" said Artur V. Cideciyan, PhD, lead author and co-investigator of an LCA clinical trial at Penn.

Yet, when the otherwise invisible cell layers of the retina were measured by optical imaging in clinical trial participants serially over many years, the rate of cell loss was the same in treated and untreated regions. "In other words, gene therapy improved vision but did not slow or halt the progression of cell loss," commented Cideciyan.

"These unexpected observations should help to advance the current treatment by making it better and longer lasting," commented co-author Samuel G. Jacobson, MD, PhD, principal investigator of the clinical trial. "Slowing cell loss in different retinal degenerations has been a major research direction long before the current gene therapy trials. Now, the two directions must converge to ensure the longevity of the beneficial visual effects in this form of LCA."

In a continuation of the longstanding collaboration between the Scheie investigators and the Section of Ophthalmology at Penn School of Veterinary Medicine headed by co-authors Gustavo D. Aguirre, VMD, PhD, and William A. Beltran, DVM, PhD, studies were performed to test whether the clinical results were also present in the canine model of this LCA at disease stages equivalent to those in human patients.

"Our gene treatment in this canine model provided the groundwork for the clinical trials of patients, and now we added data to confirm the fact that retinal degeneration does continue despite improved vision" said Aguirre. "The next step is to perform the relevant experiments to ask what intervention will stop the degeneration if added to the gene therapy."

"These new findings contribute to greater clarity in understanding the natural history and complexity of the RPE65 form of LCA and provide a firm foundation for future investigations," said Joan M. O'Brien MD, professor and chair of the Department of Ophthalmology and director of the Scheie Eye Institute.

Co-authors, in addition to the Penn researchers include, William W. Hauswirth, PhD, professor of Ophthalmology, at the University of Florida, Gainesville.

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Light shed on complexity of gene therapy for congenital blindness

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