Archive for the ‘Gene Therapy Research’ Category

DNA Veteran
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Patients who undergo broad DNA testing to explain a specific medical condition also should be told about chance findings that indicate risk for other serious diseases, a group of genetic specialists said.

Laboratories that conduct complete gene sequencing on patients should analyze and report on about 60 genes with known links to potentially grave conditions, such as hereditary cancers and heart conditions that can be prevented and treated, according to a report released today by a working group of the American College of Medical Genetics.

As the price of DNA analysis drops, doctors more often turn to analyzing the genome, an individuals complete genetic code, for mutations that might explain a patients illness. These wider searches increase the likelihood of discovering unexpected disease-linked genes, often called incidental findings, said Robert Green, a Harvard Medical School geneticist and chairman of the panel.

The disruptive technology of sequencing is calling for us to respond, said Green, who is also a researcher at Brigham and Womens Hospital in Boston. These are all gene variants that could make an enormous difference in a patients future medical health.

The guidelines apply to children and adults, the report said.

Faster, cheaper DNA analyzers made by Life Technologies Corp. (LIFE) and Illumina Inc. (ILMN) have dropped the price of sequencing a single human genome to about $4,000 from more than $2 billion in 2001. Government projects in the U.S., U.K., and the Faroe Islands in the North Atlantic are planning to sequence the genomes of millions of people for research and treatment.

Mutations listed in the guidelines include those that raise the risk of breast and colon cancer, heart conditions such as hypertrophic cardiomyopathy and blood disorders such as familial hypercholesterolemia. These mutations should be reported to doctors, who can decide when and how to discuss the information with patients and families, the panel said.

In most of these cases, if these mutations appear in a patients report, its going to be pretty difficult for the doctor to avoid discussing it, Green said.

Many of the diseases on the list, such as inherited cancers, are likely to arise later in life. The guidelines recommend that when mutations tied to those diseases occur in children, they should be put in the patients file and shared with parents, just like any other sign of disease risk.

An incidental finding relevant to adult disease that is discovered and reported through clinical sequencing of a child may be the only way in which that variant will come to light for the parent, the panels report said.

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Patients Should Be Told of Unexpected Gene Test Results

TUESDAY, March 19 (HealthDay News) -- Children who inherit certain variations in four particular genes have an increased risk of developing childhood leukemia, a new study says.

The researchers also found that Hispanic children are more likely than white or black children to inherit high-risk versions of two of the genes that can lead to acute lymphoblastic leukemia (ALL).

Rates of ALL are higher in Hispanic children than in white or black children, and these findings point to at least one reason for that difference, according to the St. Jude Children's Research Hospital-led study.

Children inherit two copies of each gene, one from each parent. That means that children could inherit up to eight high-risk versions of the four genes linked to an increased risk of ALL, the researchers said.

Children with more than five copies of the risk genes were nine times more likely to develop ALL than those with no more than one copy, according to the study published online March 19 in the Journal of the National Cancer Institute.

The study included nearly 2,500 children with ALL and nearly 11,000 without the disease.

"ALL is a complex disease that likely involves many genes. The discoveries we are reporting in this paper are an important step forward in terms of understanding why children develop ALL in the first place, particularly for those with African or Hispanic ethnicity. However, this is probably still just a small part of the complete picture," study senior author Jun Yang, an assistant member of the St. Jude Department of Pharmaceutical Sciences in Memphis, Tenn., said in a hospital news release.

This year, about 3,000 children in the United States will be diagnosed with ALL, which is the most common childhood cancer. It is also among the most curable.

-- Robert Preidt

Copyright 2013 HealthDay. All rights reserved.

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Gene Mutations Appear Key to Childhood Leukemia Risk, Study Says

A Think-Tank For Christians - Chuck Missler
In this segment Chuck Missler discusses The Koinonia Institute. This segment comes from the "Hebrews" commentary published by Koinonia House. - To purchase t...

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Timothy #39;s Background - Chuck Missler
In this segment Chuck Missler discusses Timothy #39;s background. This segment comes from the "Timothy" commentary published by Koinonia House. - To purchase thi...

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From the Frontline to the Waistline: Military Combats Calories
In the decade since the U.S. began fighting in Iraq and Afghanistan, the frontline of war has been located in the Middle East. That battle zone is now moving...

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Archon Invasion "The Return Of The Nephilim"
Detailed Nephilim Earth History Research Study This video shows how I believe the Nephilim returned BEFORE the Flood and what it was that caused Moses to wri...

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Panel Discussion on Globalization, Environment and Democracy
Association for India #39;s Development (AID) is pleased to present the first in its series on the environment, a panel discussion on Globalization, Environment ...

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The Pakistan Military in Politics: Predicament of a Garrison State
A talk by Prof Ishtiaq Ahmed, Professor Emeritus of Political Science, Stockholm University at Azim Premji University. About the Topic This lecture highlight...

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The Love of Money - Chuck Missler
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The Ethics of Rapid Selective Evolution
NASA bioethicist Paul Root Wolpe discusses the dangers of losing perspective in an era where new species can be created overnight. March 4, 2013. For video, ...

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Genetic Engineering - Do You Want a Baby? (Do You Believe in Magic?)
Genetic Engineering Do You Want a BabyDo You Believe in Magic. Uploaded by dogruffruff on Mar 16 2013. Christian Johnson Bailey Orr Amado Saade Alissa Stolt Lippincott English III GTAP 1 21 December 2012.

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A Study in Genetic Engineering (or Andrei, the Prodigal Son)
A Study in Genetic Engineeringor Andrei the Prodigal Son. Uploaded by msexauer on Mar 18 2013. Cam Jeremy and Andrei delve into the controversial world of genetic engineering with the creation of the BK2000.

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According to Vice, the scientists and researchers at BGI Shenzhen have taken on the genetic engineering project and are getting close to figuring out the common allele among the "genius" DNA.

Geoffrey Miller, an evolutionary psychologist, is among the 2,000 luminaries who donated DNA to the science of smart.

In an interview with Vice, Miller explains in more detail what exactly the research may be able to achieve, and why China is far more advanced in genetic research.

Miller says that even if IQ is boosted in one generation by a seemingly small increment, the potential of even more intelligent offspring increases as well and can improve society in all sectors. Even if it only boosts the average kid by five IQ points, thats a huge difference in terms of economic productivity, the competitiveness of the country, how many patents they get, how their businesses are run and how innovative their economy is, he said.

Chinas past with eugenics has paved a way for current Chinese geneticists and researchers to be leaders in the field, despite what many perceive as controversial science. Under the leadership of Deng Xiaoping in the late 1970s and '80s, managing Chinas booming population became a priority. By the time technology allowed for it, prenatal testing and screening for birth defects and gender were common among Chinese parents who only had one chance to have a child because of the one child policy implemented by Deng. And though gender-selecting abortion is illegal in China, this did not stop many parents from killing or abandoning baby girls.

This project, by BGI Shenzhen, Miller said, is rooted in the idea of prenatal screening, but does not cross lines of genetic engineering or adding new genes. Its the genes that couples already have, Miller said, adding that that kid would belong to that couple as if they had it naturally, but it would be the smartest a couple would be able to produce if they had 100 kids.

Miller says genetics research is so advanced in China is because of a lack of religious culture that inhibits Western research. We have ideological biases that say, well, this could be troubling, we shouldnt be meddling with nature, we shouldnt be meddling with God.

But most Chinese, Miller believes, have no qualms about genetically engineering babies.

An audience would say, Obviously you should make babies genetically healthier, happier and brighter!

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Chinese Scientists May Soon Be Able To Genetically Engineer Smarter Children

Public release date: 21-Mar-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, March 21, 2013A new study of patterns of brain communication in toddlers with autism shows evidence of aberrant neural communication even at this relatively early stage of brain development. The results are presented in an article in Brain Connectivity, a bimonthly peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Brain Connectivity website at http://www.liebertpub.com/brain.

A team of researchers from The Netherlands (University Medical Center Utrecht and Utrecht University, Radboud University Nijmegen Medical Center, and VU University Medical Center, Amsterdam) compared electroencephalography (EEG) recordings from young children with and without autism. The researchers evaluated the patterns of communication between various functional neural networks in the brain that aid in the processing and integration of information.

In the article "Disrupted Functional Brain Networks in Autistic Toddlers," Maria Boersma et al. describe significant differences in the communication patterns, in particular in variables such as path length and clustering.

"This work provides support to the hypothesis that autism is a disorder of connectivity," says Christopher Pawela, PhD, Co-Editor-in-Chief and Assistant Professor, Medical College of Wisconsin. "The researchers demonstrated that autistic children's brains have both reduced brain connectivity and a diminished capacity for neural communication. This is an interesting finding and has impact on the understanding of the abnormal brain development in autistic children."

###

About the Journal

Brain Connectivity is the journal of record for researchers and clinicians interested in all aspects of brain connectivity. The Journal is under the leadership of Founding and Co-Editors-in-Chief Christopher Pawela, PhD and Bharat Biswal, PhD, Associate Professor, University of Medicine and Dentistry of New Jersey. It includes original peer-reviewed papers, review articles, point-counterpoint discussions on controversies in the field, and a product/technology review section. To ensure that scientific findings are rapidly disseminated, articles are published Instant Online within 72 hours of acceptance, with fully typeset, fast-track publication within four weeks. Tables of content and a sample issue can be viewed on the Brain Connectivity website at http://www.liebertpub.com/brain.

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Do disruptions in brain communication have a role in autism?

When scientists Phillipe Horvath and Rodolphe Barrangou set out to find a better way to make yogurt, they didn't expect to stumble across one of the future's most promising discoveries: a super protein that can accurately cut DNAand could perhaps revolutionize genetic engineering.

The protein, called Cas9, can be exploited to snip strands of DNA in exactly the place researchers want. It doesn't make genetic engineering easy, but does make it much, much easieras it allows researchers to splice sequences of DNA together affordably, with unprecedented accuracy.

So how does it work? Well, Cas9 was found last year to join forces with bacteria in such a way that, combined, they home into viruses and kill them by cutting their DNA at specific, targeted points. That's interestingin fact, it made it a prime candidate for making yogurt production more efficient.

But what's more interesting is that Cas9 can be paired with any string of RNAstrings of molecules not unlike DNA which code and regulate gene expressionto target a matching piece of DNA and snip it with incredible accuracy. Kind of like a pair of tiny, custom DNA scissors. That's not interestingthat's amazing.

Now, though, reports Forbes, the world of biology is swarming over Cas9 and the possibilities it affords. George Church of Harvard University explains:

"It is spreading like wildfire from everyone who knows about it and it certainly is very tantalizing. It's easy to get in and start doing lots of experiments."

The embrace of Cas9 could bring with it massive advances, then. Not least the ability to study genetics in ways never before possible. Forbes explains:

[S]ay there are three changes in the DNA in or around a gene that might cause a disease. Right now, it's hard to study them directly. But now, Church says, you could take a cell from a person who has already had their DNA sequenced, as he is doing with his Personal Genome Project. Then you'd create what's known as an induced pluripotent stem cell, a cell that behaves much like one in an embryo. After that, you could use Cas9 to change each of those DNA spelling changes.

There is, of course, still a long way to gothis research is being conducted in Petri dishes right now, not living creaturesbut it's a long time since a single protein had the entire world of biology so excited. It's only a matter of time before something major comes of it; not bad, for a protein which was originally discovered to make better yogurt. [Forbes, Science]

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The Super Protein That Can Cut DNA and Revolutionize Genetic Engineering

America #39;s Newsroom with Erich Pratt on the Feinstein Assault Weapon Ban
January 25, 2013 - Fox News Channel "America #39;s Newsroom" host Bill Hemmer talks with Erich Pratt, Director of Communications at Gun Owners of America, about ...

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Let Your Light Shine
Family Appreciation 2013.

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PGM Second Lesson, Last Swings
PGM Second Lesson, Last Swings.

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GIRLS VS MRE #39;S
OPEN ME!! So me and Makayla made this video a while ago...before the snow obviously. Her brother Matthew is a Marine and he sent the MRE #39;s to her. MRE=Meals ...

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Released: 3/14/2013 4:00 PM EDT Embargo expired: 3/20/2013 5:00 PM EDT Source Newsroom: Mayo Clinic

Study to be presented at the annual meeting of the American Academy of Neurology by NorthShore University HealthSystem and Mayo Clinic

Newswise SAN DIEGO -- NorthShore University HealthSystem (NorthShore) and Mayo Clinic researchers have partnered on a study that shows genetic and clinical evidence that therapies targeting the expression of alpha-synuclein -- a gene whose function is involved in the development and progression of Parkinsons disease -- may accelerate disease progression and increase the risk of physical incapacitation and dementia. If replicated, the findings will have profound implications for therapies under development for Parkinsons disease.

Our research suggests therapies that seek to suppress alpha-synuclein in Parkinsons disease may actually accelerate the disease process and increase the risk for developing severe physical disability and dementia, says lead author Demetrius Maraganore, M.D., Ruth Cain Ruggles Chairman, Department of Neurology at NorthShore. We believe it is our responsibility to release these data because this type of treatment may have long-term harmful effects.

Alpha-synuclein is a major component of Lewy bodies -- a characteristic brain cell abnormality that occurs in all cases of Parkinsons disease. Since its discovery as a cause of familial Parkinsons disease nearly 20 years ago, alpha-synuclein has been the focus of intensive efforts by researchers working to definitively characterize the proteins role in idiopathic Parkinsons disease and its potential as a target for neuroprotective therapies. It has also been the focus of multiple efforts to develop a molecule that suppresses the protein function. A vaccine that targets alpha-synuclein (reducing alpha-synuclein levels) is currently in Phase I clinical trials, and a number of molecules that target the protein for reduction are in advanced stages of preclinical development.

For the first time we observed that while over-expression of alpha-synuclein increases the risk for developing Parkinsons disease, conversely, under-expression is associated with worse motor and cognitive outcomes after the disease starts, says first author Katerina Markopoulou, M.D., Ph.D., a neurologist at NorthShore. This raises concerns about the efficacy and safety of therapies designed to reduce alpha-synuclein expression in Parkinsons disease.

The researchers followed 1,098 Mayo Clinic patients for nearly 15 years (median: eight years), and sequenced the patients DNA to determine the presence of gene variants that regulate how much alpha-synuclein protein is made. They studied the association of these gene variants with patients survival that was free of severe motor and cognitive disabilities. Patient outcomes were measured by telephone interviews.

The scientists found that patients who had the reduced expression genotype had a 23 percent greater risk of becoming wheelchair-dependent or developing dementia.

This is the first large genetic association study of alpha-synuclein and longitudinal outcomes in Parkinsons disease, says Eric Ahlskog, M.D., Ph.D., a Mayo Clinic neurologist and author on the study. If replicated, this research may change the treatment paradigm focused on alpha-synuclein reduction for Parkinsons disease.

The study will be discussed at 5 p.m. EST, March 20 at the 2013 American Academy of Neurology (AAN) Annual Meeting in San Diego. This research is one example of the collaborative efforts between NorthShore and Mayo Clinic under the Mayo Clinic Care Network, a unique partnership that provides NorthShore patients with access to medical resources and experts from both systems working together on their behalf.

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Research Shows Genetic Evidence that New Therapies Targeting Parkinson's Disease may Cause Harm

The cold frozen north and south are pristine and innocent. Even the people who live there. People living in Arctic areas can be more sensitive to pollutants due to their genetics, says researcher Arja Rautio at the Center for Arctic Medicine in the University of Oulu, Finland. This is unfortunate since the northernmost areas of Europe are receiving more harmful chemicals. Scientists believe climate change may be a culprit as air and water mass movements push some of these undesirable chemicals towards the Arctic. "In real life, people are exposed to lots of chemicals," says Rautio, who leads studies into the human health effects from contaminants and the influence of climate change in a EU-funded project called ArcRisk, "and I think the people of the north are exposed to higher levels than for example the general population in Europe."

The Arctic is a polar region located at the northernmost part of the Earth. The Arctic consists of the Arctic Ocean and parts of Canada, Russia, Denmark (Greenland), Norway, the United States (Alaska), Sweden, Finland, and Iceland. The Arctic region consists of a vast, ice-covered ocean, surrounded by treeless permafrost.

Long-range transport of contaminants to the Arctic, the resulting exposures observed in Arctic human populations, and impacts of such exposures on human health have been the subject of considerable work in recent years, providing a baseline against which to compare future developments.

The Arctic is comparatively clean, although there are certain ecologically difficult localized pollution problems that present a serious threat to peoples health living around these pollution sources. Due to the prevailing worldwide sea and air currents, the Arctic area is the fallout region for long-range transport pollutants, and in some places the concentrations exceed the levels of densely populated urban areas. An example of this is the phenomenon of Arctic haze, which is commonly blamed on long-range pollutants. Another example is with the bioaccumulation of PCB's (polychlorinated biphenyls) in Arctic wildlife and people.

Many new contaminants like fluorinated and brominated compounds and bisphenol A can act on hormones and so have impacts on human health. But seeing an effect on humans, at the population level, could take ten or even 20 years, especially in the case of cancer, she adds. This is why ArcRisk has established a database containing data on concentration levels and trends of contaminants in humans. The project team analysed frozen blood samples collected in Norway in 1978, 1986, 1995 and 2008 for polychlorinated biphenyls (PCBs), chlorinated pesticides and polybrominated diphenylethers (PBDEs).

In addition, the human population is genetically variable and may react differently to the chemicals and we dont even know which of the chemicals affect us.

"Moreover, some of these chemicals reside in the environment and in the body for a long time, and this means that they may build up," says Zoeller. His recently edited a recent World Health Organization report which warned that chronic diseases are increasing worldwide and many are related to hormones.

Health problems induced by these chemicals could be worse than anticipated. Some of the pollutants found in the Arctic by the project scientists like the fluorinated compounds have higher affinities for hormone receptors than even the natural hormones.

These animal studies already show worrying trends that do not bode well for humans. "When we see these findings in Arctic animals I am very concerned about what we will find with regards to humans, though we ourselves dont do human studies," Gabrielsen says. He notes that long periods of warm air are being transported to the Arctic and that the sea currents around places like the Svalbard islands [located midway between Norway and the North Pole] now consist of warmer Atlantic water; they used to consist of polar waters. "Climate change is having an effect and it is resulting in higher levels of contaminants in the environment and [therefore] also in the animals," Gabrielsen warns.

The main challenge that project scientists struggle with is to disentangle the effects of contaminant chemicals from what we do in our everyday lives. "We know that dioxins can lead to more diabetes and high blood pressure," says Rautio, "but there are many other confounding factors. We are changing our diet and many of us are less active and those lifestyle choices can also increase the risk of diseases like diabetes." The results of the project are due to be presented at a conference of Arctic Frontiers in Troms, Norway, in January 2014.

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Arctic Genetic Pollution Effects

DUBLIN, March 20, 2013 /PRNewswire/ --

Research and Markets has announced the addition of the "Personalized Medicine: Companies, Trends and World Market" report to their offering.

This broad, high-level report analyzes the expanding Personalized Medicine market. This world market includes important core medical product areas that will continue to have a powerful impact on current and future healthcare delivery. This business report examines key market segments such as targeted drugs and key personalized medicine diagnostics, including companion diagnostic IVDs, LDTs, diagnostic services and related tools or technologies.

(Logo: http://photos.prnewswire.com/prnh/20130307/600769 )

Many people already know about DNA, genes and the human genome. The science driving personalized medicine includes pharmacogenetics, pharmacoproteomics and pharmacometabalomix. Personalized medicine uses a targeted drug that depends on the patient information identified by a companion diagnostic (genetic biomarker test). The companion diagnostic identifies which patients would likely benefit from a particular therapy or those who might suffer from a bad side effect. The test information enables doctors to select the drug therapy that would benefit the patient. Drug developers in clinical trials could use a companion diagnostic to select patents that would benefit from a targeted drug.

The report discusses important technologies, including microarray, next-generation sequencing, PCR, bioinformatics, nanotechnology and other platforms. This section highlights key platforms and selected vendors. For example, the field of clinical next generation sequencing is expected to have an impact on personalized medicine.

The report covers subjects including important personalized medicine concepts. The study discusses key biomarkers, commercial diagnostics and therapeutics that drive personalized medicine. The study highlights new personalized diagnostics. This research examines the current targeted therapeutics on the market and drugs in the clinical pipeline.

The report highlights major government regulatory activities that involve personalized medicine in the US and Europe. The US FDA and the European EMA have drafted guidance papers to help drug makers and diagnostic firms develop future targeted therapies guided by companion diagnostics. The recent FDA approvals of Pfizer's Xalkori for lung cancer and Roche's Zelboraf for melanoma demonstrate that a surge in new targeted drugs is happening.

This report is in an interactive PDF format. The interactive feature uses hyperlinks that enable the reader to click the mouse to jump from Table of Contents items to sections inside the report. The hyperlinks also allow the reader to click on links to Internet information.

This study discusses important personalized medicine topics and provides the reader with key findings. The report estimates that the world personalized medicine market value will reach multi-billions of dollars in 2012, with a strong double-digit growth rate. This study reviews the activities of 31 companies.

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Personalized Medicine : Companies, Trends and World Market

AUSTIN, Texas, March 21, 2013 /PRNewswire/ -- Asuragen Inc., a leading molecular diagnostics company, today announced results from a study demonstrating that a new molecular test called Xpansion Interpreter can improve the determination of a woman's risk of having a child with fragile X syndrome, the most common inherited cause of intellectual disability and autism, compared to existing risk measures. The Xpansion Interpreter Test is based on a technology breakthrough that reveals both the number and position of "interrupting" DNA sequences in the fragile X gene of the mother and more accurately estimates the likelihood that her child will have fragile X syndrome. The study will be published in the April issue of the American Journal of Medical Genetics and presented today at the 2013 American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting in Phoenix, AZ.

To view the multimedia assets associated with this release, please click: http://www.multivu.com/mnr/60719-asuragen-xpansion-interpreter-xi-test-data-fragile-x-syndrome-autism

"The increased testing of women for fragile X status has led to the identification of carriers whose risk of having a child with fragile X syndrome is unknown," said Sally Nolin, Ph.D., Director of the Fragile X Laboratory at the New York Institute for Basic Research in Developmental Disabilities and lead author on the paper. "We are now able to better estimate this risk so that women who are fragile X intermediate or premutation carriers can be counseled with the best possible information."

Fragile X syndrome is caused by a mutation in the FMR1 gene that alters the production of a protein required for normal brain development. The mutation is the result of a small part of the genetic code (CGG) being repeated on a fragile area of the X chromosome. Repeat CGG sequences are categorized into four classes based on repeat length: normal (<45 repeats); intermediate (45-54 repeats); premutation (55-200 repeats); and full mutation (>200 repeats).

"A mother with more than 55 CGG repeats in her fragile X gene may be perfectly normal, yet instability of this gene can result in fragile X syndrome in her child," said Gary Latham, Ph.D., Vice President of Research and Technology Development at Asuragen. "Xpansion Interpreter predicts the risk of CGG expansion in the child by identifying the presence of another unique DNA sequence in the gene an AGG sequence that acts as a stabilizer in the string of CGG repeats and protects against expansion."

The published study, performed in collaboration with the New York Institute for Basic Research in Developmental Disabilities, Rush University Medical Center, Emory University School of Medicine and the M.I.N.D. Institute at the University of California Davis, evaluated AGG interruptions in 457 mother-to-child transmissions in women with intermediate or small premutation fragile X alleles (45-69 CGG repeats). The results revealed that the number and position of AGG interruptions, coupled with total number of CGG repeats, provide significant improvements over current risk estimates in predicting fragile X gene instability and expansion to a full fragile X mutation. All nine transmissions of the full fragile X expansion mutation in the study were from mothers with CGG repeat regions lacking AGG sequences.

"The difference in expansion risk for premutation carriers without any AGG is much higher than those with one or two AGGs," said Dr. Nolin. "Our study demonstrates that women with 50-54 repeats and no AGG interruptions may expand to larger, premutation alleles. In addition, there is a clear risk of fragile X syndrome in the children of women with small premutation alleles without AGG. These women should be offered the option of fragile X prenatal testing."

The Xpansion Interpreter Test is made available through Asuragen's accredited clinical laboratory in Austin, TX. Asuragen developed the methods and process to overcome formidable technological challenges and make FMR1 genotyping efficient and AGG sequence mapping accurate for use in clinical practice.

"AGG profiling complements our AmplideX fragile X PCR technologies that also offer unprecedented sensitivity in detecting fragile X mutations, and the ability to determine methylation status of each FMR1 allele without the need for Southern blot analysis," said Rollie Carlson, Ph.D., President & CEO of Asuragen. "Our experience and technological capability have made Asuragen an industry leading provider of solutions for fragile X profiling."

About AsuragenAsuragen is a molecular diagnostics company with a pioneering position in miRNA using genomics to drive better patient management through best-in-class clinical testing solutions. The company uses a breadth of technologies and talent to discover, develop and commercialize diagnostic products and clinical testing services with efficiency and flexibility both internally and for our companion diagnostic partners. Today, Asuragen's products, services and technologies drive countless patient management decisions across oncology, genetic disease and other molecular testing modalities. In the future, we envision the Company's development of miRNA-based clinical diagnostics will help transform medicine by improving clinical outcomes and health economics. For more information, visit http://www.asuragen.com.

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Study Finds New Genetic Test Better Predicts Mother's Risk of Having a Child With Fragile X Syndrome

Public release date: 21-Mar-2013 [ | E-mail | Share ]

Contact: Tom Langford tlangford@partners.org 617-534-1605 Brigham and Women's Hospital

Boston In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics (ACMG). A report of the recommendations, led by Robert C. Green, MD, MPH, a medical geneticist at Brigham and Women's Hospital (BWH), outlines for the first time a minimum list of genetic conditions, genes and variants that laboratories performing clinical sequencing should seek and report to the physicians that ordered the testing -- regardless of the original reasons for which the test was ordered.

"If, as expected, these recommendations are adopted by laboratories and clinicians, they will have important implications," said Green, who also co-chaired the ACMG Working Group that developed the recommendations. "As clinical sequencing becomes more widespread, laboratories are looking for guidance on how and what should be communicated to clinicians when results are analyzed. These recommendations will allow a small percentage of families to learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for."

The recommendations are the result of a year-long process which included review by outside experts and approval by the ACMG Board of Directors. Leslie Biesecker, MD, chief and senior investigator of the Genetic Diseases Research Branch at the National Human Genome Research Institute co-chaired the working group with Dr. Green.

"Incidental findings" are health-related interpretations of a patient's genetic code that are unrelated to the primary reason for ordering the genetic testing. For example, if a clinician orders exome or genome sequencing to analyze genes related to a patient's cardiac condition, the laboratory will already have information about all the other genes in hand and could examine genes for something like cancer predisposition with relative ease. Should a known or suspected mutation be found in a cancer predisposition gene, the laboratory would report this incidental findings back to the ordering clinician, and the clinician and patient could take steps to screen for cancer. However, in the absence of accepted guidelines about which variants to search for and which results to return to the clinician, laboratories have been uncertain whether to search for or report results beyond those that the doctor ordered.

"We are at an early stage in the implementation of genomic medicine, and this is a difficult topic to manage because there is not yet much scientific evidence to support whether returning incidental findings can provide medical benefit," said Dr. Green. "Based upon existing evidence and clinical judgment, our Working Group of medical geneticists, genetic counselors, ethicists and molecular laboratorians reached consensus that a small number of conditions, genes and variants were likely to have a positive impact on the health of patients and their families if incidentally identified and reported."

In assembling this list, the Working Group prioritized the disclosure of disorders where:

Examples of diseases recommended for disclosure include rare hereditary cancers and rare heart diseases that could result in sudden cardiac death. The full recommendations are available on the ACMG's website.

Because clinical sequencing is an entirely new technology, the recommendations include several provisions that deviate from established practices in medical genetics. For example, the Working Group did not recommend giving patients a choice of whether or not their physician would receive positive results from the list of recommended incidental findings. The Working Group also recommended that adult-onset conditions on the list be reported even when the patient is a minor. Dr. Green acknowledged that these recommendations diverge from current practices in medical genetics, explaining, "Sequencing offers a brand new way of looking at genetic testing. The Working Group believes that when we can detect findings that could provide clues to a dangerous condition for which a medical intervention may be possible, laboratories and clinicians have a responsibility to alert the patient's physician, as is done in the rest of medical practice."

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For the first time, recommendations offer guidance about incidental genetic findings