Close up of laboratory microscope (Matthew Jones)

"Without question, man's knowledge of man is undergoing the greatest revolution since Leonardo. In many ways personalized medicine is already here." - Dr. Francis Collins

That quote, from Dr. Francis Collins, director of the National Institutes of Health, was used at the beginning of a report on genetic testing by UnitedHealth Group's Center for Health Reform & Modernization.

The report, "Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics," was released in March.

For the paper, the organization surveyed the public on their familiarity with genetic testing. While 71 percent said they were familiar with the concept, only one in two indicated they were knowledgable about genetic science.

So the Los Angeles News Group spoke with doctors at Cedars-Sinai Medical Center to shed light on this rapidly evolving field of health care.

Genetic testing analyzes a person's genetic material, including genes and biomarkers. While a person's complete DNA can be decoded, a process called whole genome sequencing, researchers don't know how to interpret all of the information quite yet. Currently, tests can be used to detect 2,500 conditions, according to UnitedHealth.

"The whole genetic testing story is linked to an entire paradigm in medicine that is evolving, and that is personalized medicine," says Dr. Mahul Amin, chairman of Pathology and Laboratory Medicine at

Amin's research focuses on uncovering biomarkers for cancer - particularly of the prostate, bladder, kidney and testis - that will allow for personalized treatment of patients with these diseases.

A biomarker is a biochemical, genetic or molecular characteristic that acts as an indicator of a particular biological condition.

Go here to read the rest:

Advances in genetic testing allow for more personalized medical treatments

Public release date: 27-Jun-2012 [ | E-mail | Share ]

Contact: Brian Lin brian.lin@ubc.ca 604-822-2234 University of British Columbia

An international team led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health has identified the latest gene associated with typical late-onset Lewy body Parkinson's disease (PD), with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry.

Twelve of the 57 members of the Saskatchewan family who participated in the study had previously been diagnosed with PD.

UBC Medical Genetics Prof. Matthew Farrer, who led the research, notes that unequivocal confirmation of the gene's linkage with PD required DNA samples from thousands of patients with PD and healthy individuals. He refers to the new discovery as the "missing link," as it helps to unify past genetic discoveries in PD.

"A breakthrough like this would not be possible without the involvement and support of the Saskatchewan Mennonite family who gave up considerable time, contributed clinical information, donated blood samples, participated in PET imaging studies and, on more than one occasion following the death of an individual, donated brain samples," says Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience and the Dr. Donald Rix BC Leadership Chair in Genetic Medicine.

"We are forever indebted to their generosity and contribution to better understanding and ultimately finding a cure for this debilitating disease."

The mutation, in a gene called DNAJC13, was discovered using massively parallel DNA sequencing. Conclusive evidence came from the identification of the gene mutation in several other families across many Canadian provinces, including British Columbia.

"This discovery is not only significant for researchers, but also for those families carrying this genetic mutation and afflicted with this disease in that it offers hope that something good might yet result from their suffering," says Bruce Guenther, President of the Mennonite Brethren Biblical Seminary Canada, a community leader and spokesperson for the family that participated in the study.

"The family involved is very grateful for the research team's respectful, collaborative and sensitive approach, and we hope that this enables the discovery of more effective treatments, and hopefully eventually a cure."

Read more:

Parkinson's disease gene identified with help of Mennonite family: UBC-VCH research

Brian Wellss job is to make big data and technology issues disappear for the researchers at the Perelman School of Medicine. He is building the technical infrastructure needed to achieve the goals of personalized medicine regarding biobanking and genetic sequencing. This associate chief information officer for Health Technology and Academic Computing at Penn Medicine recently spoke with MedCity News about some new developments at Penn including his thoughts on the challenge of sharing electronic medical records.

What have been some of the unforeseen consequences of the growth of information technology in healthcare?

There will be increasing desire to provide access to all that information the problem is we dont have unified standards for access. So the exchange of real data discretely is very difficult today.

What we call a white blood cell count at Penn is probably different than what Geisinger calls it and thats just one lab test. The exchange and utilization of data that can be acted on electronically is pretty constrained. We have many ways to record information, but not as many common ways to share information.

For example, there may be as many as 10 coding systems. LOINC is the industry standard for lab tests. In the world of drugs there are three to four different systems. For diagnoses, a 70-fold explosion in the world of codes is on the horizon. Were about to shift from ICD-09 to ICD-10 (the coding system tied to reimbursement).

What have been some of the biggest challenges faced in implementing EMR to meet Meaningful Use criteria?

We are in very good shape for stage 1. Stage 2 is a little more difficult. CMS will want us to be able to exchange data with other hospitals without the same software. And it must be a facility that has at least 10 percent of our patients. That may be daunting for a tertiary care facility like Penn.

What about personal health records?

The whole personal health record industry came and went and failed because patients are busy. Its a lot of work to constantly update a PHR. The concept of a tethered PHR in which records are linked and tethered to Penn (such as mypennmedicine.org) is having more success in the industry.

And the new standard the FCC has just announced, Medical Body Area Networks, or MBAN, will allow devices to transmit data without wires. Its a protected bandwidth the FCC will preserve and Im sure vendors are jumping on that technology and will make it easier and more reliable to transmit that data.

Go here to see the original:

Penn Medicine HIT expert: Patient expectations ahead of current EHR capabilities

Prenatal exposure to bisphenol A -- a compound bearing similarities to the hormone estrogen, which is found in a lot of plastics -- meant lasting genetic changes for female mice when they reached puberty, according to new research that reinforces concerns about the link between BPA and female reproductive disorders.

Yale University School of Medicine researchers presented the data Tuesday at a meeting of The Endocrine Society in Houston, Texas. The research has not yet appeared in a peer-reviewed journal.

Before the mice reached puberty, the Yale team didn't see much difference in the gene expression patterns of BPA-exposed mice and control mice.

But after the mice reached puberty, BPA-exposed mice showed alterations in how much of a gene's product was produced for 365 separate genes. In 208 of those genes, the researchers saw unusual patterns of DNA methylation - a chemical process that regulates how the gene is expressed. Of those 208 genes, at least 14 are known to play roles in the mouse's response to estrogen.

Other studies have linked BPA's estrogen-like characteristic to breast cancer and other disorders with roots in abnormal sensitivity to estrogen, according to the researchers.

Follow us

Many major manufacturers have already stopped using BPA in the production of baby bottles and other products, and the U.S. Food and Drug Administration says it is working to develop BPA alternatives for the linings of infant formula cans.

"BPA exposure in utero appears to program uterine estrogen responsiveness in adulthood," lead author Hugh Taylor said in a statement. "Pregnant women should minimize BPA exposure."

Follow this link:

BPA Exposure Alters Genetic Patterns In Pubescent Mice: Study

SAN DIEGO--(BUSINESS WIRE)--

Pathway Genomics Corporation, a San Diego-based genetic testing laboratory, has partnered with Diagnsticos da Amrica (DASA), the largest private medical diagnostics company in Latin America and the fourth largest provider of diagnostic services in the world. Based in Brazil, DASAs clinical analysis division collects samples from more than 500 patient service centers and has 11 central laboratories. DASAs brands include Alta Excelncia Diagnstica, Delboni Auriemo, Lavoisier, CDPI, Srgio Franco, Pasteur, Exame and others. Through this partnership, physicians have access to Pathways valuable genetic testing services, bringing additional personalized care to more than 180 million people in Brazil.

Pathways vision is to responsibly reveal personalized and actionable genetic information in order to globally educate, inform and improve health and well-being, said Dr. Michael Nova, Pathways chief medical officer. Our alignment with DASA is a major part of this vision, and we are excited to help bring this scientifically-advanced technology to the people of Brazil.

Specifically, through DASA, physicians in Brazil now have access to multiple genetic tests, including:

The partnership between DASA and Pathway represents a milestone in Brazilian medicine, ensuring access to predictive genetic tests through an advanced and innovative technology, said Dr. Octvio Fernandes, DASAs chief operating officer. DASA is a reference in Brazil due to our excellence, innovation and quality in medical diagnostic services. With 50 years of expertise, the company has one of the largest medical teams in Latin America, composed of nearly 2,000 world-renowned doctors, and offering more than 3,000 types of laboratory tests and imaging diagnostics provided by more than 18,000 professionals.

Pathways laboratory is accredited by the College of American Pathologists (CAP) and accredited in accordance with the U.S. Health and Human Services Clinical Laboratory Improvement Amendments (CLIA) of 1988. Pathway is also a member of the American Clinical Laboratory Association (ACLA). The company consists of more than 40 scientific and medical professionals, including medical doctors, molecular geneticists, and genetic counselors, as well as an expert scientific advisory board.

About Pathway Genomics Corporation

Pathway Genomics owns and operates an on-site genetic testing laboratory that is accredited by the College of American Pathologists (CAP), accredited in accordance with the U.S. Health and Human Services Clinical Laboratory Improvement Amendments (CLIA) of 1988, and licensed by the state of California. Using only a saliva sample, the company incorporates customized and scientifically validated technologies to generate personalized reports, which address a variety of medical issues, including an individuals carrier status for recessive genetic conditions, food metabolism and exercise response, prescription drug response, and propensity to develop certain diseases such as heart disease, type 2 diabetes and cancer. For more information about Pathway Genomics, visit http://www.pathway.com.

About DASA

DASA is the largest private medical diagnostics company in Latin America offering a portfolio of over 3,000 clinical analysis and imaging tests. In the clinical analysis segment, samples are collected in more than 500 patient service centers and analyzed in 11 central laboratories. In the diagnostic imaging segment, the images are submitted to physicians for analysis and reporting according to their medical specialty. For more information about DASA, visit http://www.dasa.com.br.

More:

Pathway Genomics Partners with DASA, the Largest Private Medical Diagnostics Company in Brazil

23-06-2012 23:23 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

Read this article:

Dr Rima Laibow 4/4 Speaks on Codex Alimentarius - Video

23-06-2012 23:23 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

Excerpt from:

Dr Rima Laibow 3/4 Speaks on Codex Alimentarius - Video

23-06-2012 23:24 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

View original post here:

Dr Rima Laibow 2/4 Speaks on Codex Alimentarius - Video

Washington, June 22 (ANI): Scientists have found genetic changes that help explain why one person has an autism spectrum disorders (ASDs) and another does not.

See the original post here:

Genes significantly misregulated in autistics kids

TAMPA Imagine being able to use a person's unique genetic code to find the right treatment for heart failure, asthma or even the dreaded common cold.

That's the focus of Dr. Stephen Liggett, one of the newest additions to the University of South Florida's Morsani College of Medicine.

Liggett, 57, began work earlier this month as director of the USF Health Personalized Medicine Institute. He is a national leader in the emerging field, and has attracted millions in research dollars from the National Institutes of Health.

One of his first orders of business will be to collaborate with Dr. Leslie Miller, head of the USF Health Heart Institute, which this spring received $8.9 million in state and county funding to begin developing genomics-based personalized approaches to cardiovascular care.

Liggett comes to USF from the University of Maryland, where he was a professor of medicine and physiology and director of its cardiopulmonary genomics program.

We caught up with Liggett during his first week on the job:

What is personalized medicine?

It's the use of information obtained from an individual's genetic code, or genome, to tailor their medical care. There are three areas where genomic information is particularly useful:

The prediction of whether a person is at risk for developing a disease.

The ability to predict the course, or degree of severity, of a disease in patients.

Read more:

National leader in personalized medicine heads new institute at USF Health

Public release date: 21-Jun-2012 [ | E-mail | Share ]

Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press

A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component.

ASDs are a heterogeneous group of developmental conditions characterized by social deficits, difficulty communicating, and repetitive behaviors. ASDs are thought to be highly heritable, meaning that they run in families. However, the genetics of autism are complex.

Researchers have found rare changes in the number of copies of defined genetic regions that associate with ASD. Although there are some hot-spot regions containing these alterations, very few genetic changes are exactly alike. Similarly, no two autistic people share the exact same symptoms. To discover how these genetic changes might affect gene transcription and, thus, the presentation of the disorder, Rui Luo, a graduate student in the Geschwind lab at UCLA, studied 244 families in which one child (the proband) was affected with an ASD and one was not.

In addition to identifying several potential new regions where copy-number variants (CNVs) are associated with ASDs, Geschwind's team found genes within these regions to be significantly misregulated in ASD children compared with their unaffected siblings. "Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," says Geschwind. Haploinsuffiency occurs when only one copy of a gene is functional; the result is that the body cannot produce a normal amount of protein. The researchers also found a significant enrichment of misexpressed genes in neural-related pathways in ASD children. Previous research has found that these pathways include other genetic variants associated with autism, which Geschwind explains further legitimizes the present findings.

###

Luo et al.: "Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders."

ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS

The American Journal of Human Genetics (AJHG) is ASHG's official scientific journal, published by Cell Press. AJHG is the most highly regarded peer-reviewed journal dedicated to studies in human genetics and earned an impact factor of 11.680 in 2011. AJHG provides cutting-edge research and review articles related to genetics and genomics and the application of genetic principles in health, disease, medicine, population studies, evolution, and societal impacts. For more information about AJHG, visit: http://www.ajhg.org.

Follow this link:

Study explains functional links between autism and genes

19-06-2012 13:51 Aida Bytyçi is a certified genetic counselor at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University in the US. Her time is divided between providing genetic counseling to patients and working on several research projects, such as one attempting to sequence the whole human genome to identify genes responsible for inherited syndromes and health conditions. As a genetic counselor, Aida provides support and advice to patients and their families on the inheritance and consequences of the genetic disorder. In this ideal position between research and patient care, Aida orients herself with the polar star of creative innovation brought by science and art. She believes that these two disciplines stimulate the mind and require a developed imagination to bring change in people's lives. At TEDxPrishtina Aida tells the greatest story ever written in four letters: A, T, C, and G. These four nucleotides that make the DNA code are the core of the greatest book ever written, the Human Genome. AboutTEDx, x=independently organized event In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x=independently organized TED event. The TED Conference provides general guidance for the TEDx program, but ...

Original post:

TEDxPrishtina - Aida Bytyçi - Video

19-06-2012 15:05 The SickKids Centre for Genetic Medicine is bringing together the brightest minds in patient care, education, policy and research with the goal of one day making individualized treatment a standard of care for all children. The Centre for Genetic Medicine has the potential to have a significant impact on the health of children, as 90 per cent of chronic diseases have a genetic component and known genetic diseases account for over half of hospital admissions.

Follow this link:

The SickKids Centre for Genetic Medicine - Video

Newswise LOS ANGELES (June 19, 2012) Cedars-Sinais Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

The study, published in the June 19 online issue of PLoS ONE, extends the institutes work to employ pluripotent stem cells to find a pharmaceutical treatment for spinal muscular atrophy or SMA, a genetic neuromuscular disease characterized by muscle atrophy and weakness.

With this new understanding of how motor neurons die in spinal muscular atrophy patients, we are an important step closer to identifying drugs that may reverse or prevent that process, said Clive Svendsen, PhD, director of the Cedars-Sinai Regenerative Medicine Institute.

Svendsen and his team have investigated this disease for some time now. In 2009, Nature published a study by Svendsen and his colleagues detailing how skin cells taken from a patient with the disorder were used to generate neurons of the same genetic makeup and characteristics of those affected in the disorder; this created a disease-in-a-dish that could serve as a model for discovering new drugs.

As the disease is unique to humans, previous methods to employ this approach had been unreliable in predicting how it occurs in humans. In the research published in PLoS ONE, to the team reproduced this model with skin cells from multiple patients, taking them back in time to a pluripotent stem cell state (iPS cells), and then driving them forward to study the diseased patient-specific motor neurons.

Children born with this disorder have a genetic mutation that doesnt allow their motor neurons to manufacture a critical protein necessary for them to survive. The study found these cells die through apoptosis the same form of cell death that occurs when the body eliminates old, unnecessary as well as unhealthy cells. As motor neuron cell death progresses, children with the disease experience increasing paralysis and eventually death. There is no effective treatment now for this disease. An estimated one in 35 to one in 60 people are carriers and about in 100,000 newborns have the condition.

Now we are taking these motor neurons (from multiple children with the disease and in their pluripotent state) and screening compounds that can rescue these cells and create the protein necessary for them to survive, said Dhruv Sareen, director of Cedars-Sinais Induced Pluripotent Stem Cell Core Facility and a primary author on the study. This study is an important stepping stone to guide us toward the right kinds of compounds that we hope will be effective in the model and then be reproduced in clinical trials.

The study was funded in part by a $1.9 million Tools and Technology grant from the California Institute for Regenerative Medicine aimed at developing new tools and technologies to aid pharmaceutical discoveries for this disease.

# # #

See the rest here:

Researchers, with Stem Cells, Advance Understanding of Spinal Muscular Atrophy

Public release date: 19-Jun-2012 [ | E-mail | Share ]

Contact: Nicole White nicole.white@cshs.org 310-423-5215 Cedars-Sinai Medical Center

LOS ANGELES (June 19, 2012) Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

The study, published in the June 19 online issue of PLoS ONE, extends the institute's work to employ pluripotent stem cells to find a pharmaceutical treatment for spinal muscular atrophy or SMA, a genetic neuromuscular disease characterized by muscle atrophy and weakness.

"With this new understanding of how motor neurons die in spinal muscular atrophy patients, we are an important step closer to identifying drugs that may reverse or prevent that process," said Clive Svendsen, PhD, director of the Cedars-Sinai Regenerative Medicine Institute.

Svendsen and his team have investigated this disease for some time now. In 2009, Nature published a study by Svendsen and his colleagues detailing how skin cells taken from a patient with the disorder were used to generate neurons of the same genetic makeup and characteristics of those affected in the disorder; this created a "disease-in-a-dish" that could serve as a model for discovering new drugs.

As the disease is unique to humans, previous methods to employ this approach had been unreliable in predicting how it occurs in humans. In the research published in PLoS ONE, to the team reproduced this model with skin cells from multiple patients, taking them back in time to a pluripotent stem cell state (iPS cells), and then driving them forward to study the diseased patient-specific motor neurons.

Children born with this disorder have a genetic mutation that doesn't allow their motor neurons to manufacture a critical protein necessary for them to survive. The study found these cells die through apoptosis the same form of cell death that occurs when the body eliminates old, unnecessary as well as unhealthy cells. As motor neuron cell death progresses, children with the disease experience increasing paralysis and eventually death. There is no effective treatment now for this disease. An estimated one in 35 to one in 60 people are carriers and about in 100,000 newborns have the condition.

"Now we are taking these motor neurons (from multiple children with the disease and in their pluripotent state) and screening compounds that can rescue these cells and create the protein necessary for them to survive," said Dhruv Sareen, director of Cedars-Sinai's Induced Pluripotent Stem Cell Core Facility and a primary author on the study. "This study is an important stepping stone to guide us toward the right kinds of compounds that we hope will be effective in the model and then be reproduced in clinical trials."

###

The rest is here:

Cedars-Sinai researchers, with stem cells, advance understanding of spinal muscular atrophy

CARLSBAD, Calif., June 19, 2012 /PRNewswire/ -- Life Technologies Corporation (LIFE) today announced it has partnered with The Hospital for Sick Children (SickKids) to advance pediatric genomic research on the Ion Proton Sequencer. Under the agreement, the semiconductor-based platform will be the primary instrument on which multiple clinical research samples will be mapped daily on four sequencers in the hospital's newly launched Centre for Genetic Medicine.

SickKids and Life Technologies will collaborate on developing sequencing workflows and protocols for the Ion Proton System that are tailored for studies of interest to researchers in the Centre. The first collaborative project will focus on sequencing clinical research samples to better understand the genetics behind autism, with a long-term goal to sequence up to 10,000 genomes per year to study various diseases in children.

"The perfect storm of unparalleled advances in genome sequencing technology and information science, and a captivated hospital striving for new ways to move forward in medical treatment, bring us to this important day," says the new Centre's Co-Director, Dr. Stephen Scherer, who also leads The Centre for Applied Genomics at SickKids and the University of Toronto's McLaughlin Centre. "We are very excited to work with Life Technologies to enhance our sequencing capabilities, such that 'genomic surveillance' may soon become the first line of investigation in all clinical research studies ongoing at our institution."

"Since the first published draft sequence of the human genome, our knowledge in genetics has exponentially increased," says Dr. Ronald Cohn, Co-Director of the SickKids Centre for Genetic Medicine. "With the help of this new technology, we will be able to further deepen our understanding of the genetic basis of human disease and translate this directly into daily clinical practice. We have finally reached a point, where individualized medicine is not just a theoretical concept, but will become an integral part of clinical care and management."

The Ion Proton Sequencer is designed to sequence an entire human genome in a day for $1,000. Unlike traditional next generation systems, it relies on semiconductor chips to map human exomes and genomes, making it much faster and less expensive to analyze DNA at unprecedented throughput levels and generate accurate sequencing data.

The Ion Proton Systemis based on the same proven technology as its predecessor, the Ion Personal Genome Machine (PGM), which is designed for sequencing small genomes or sets of genes. Combined with Life Technologies' AmpliSeq targeted sequencing technology, researchers can sequence panels of genes associated with disease on the PGM or exomes and genomes on the Ion Proton Sequencer in just a few hours.

"SickKids has a rich history of being at the forefront of pediatric medicine and we are pleased that its leaders have chosen the Ion Proton Sequencer as the Centre's primary technology to push the boundaries of genomics," said Mark Stevenson, President and Chief Operating Officer of Life Technologies. "Ion semiconductor technology's speed, simplicity and scalability are democratizing sequencing, and it will now be applied in disease research to benefit children."

The above mentioned technology is for research use only and not intended for human diagnostic or therapeutic use.

About Life Technologies Life Technologies Corporation (LIFE) is a global biotechnology company with customers in more than 160 countries using its innovative solutions to solve some of today's most difficult scientific challenges. Quality and innovation are accessible to every lab with its reliable and easy-to-use solutions spanning the biological spectrum with more than 50,000 products for translational research, molecular medicine and diagnostics, stem cell-based therapies, forensics, food safety and animal health. Its systems, reagents and consumables represent some of the most cited brands in scientific research including: Ion Torrent, Applied Biosystems, Invitrogen, GIBCO, Ambion, Molecular Probes, Novex, and TaqMan. Life Technologies employs approximately 10,400 people and upholds its ongoing commitment to innovation with more than 4,000 patents and exclusive licenses. LIFE had sales of $3.7 billion in 2011. Visit us at our website: http://www.lifetechnologies.com.

Life Technologies' Safe Harbor StatementThis press release includes forward-looking statements about our anticipated results that involve risks and uncertainties. Some of the information contained in this press release, including, but not limited to, statements as to industry trends and Life Technologies' plans, objectives, expectations and strategy for its business, contains forward-looking statements that are subject to risks and uncertainties that could cause actual results or events to differ materially from those expressed or implied by such forward-looking statements. Any statements that are not statements of historical fact are forward-looking statements. When used, the words "believe," "plan," "intend," "anticipate," "target," "estimate," "expect" and the like, and/or future tense or conditional constructions ("will," "may," "could," "should," etc.), or similar expressions, identify certain of these forward-looking statements. Important factors which could cause actual results to differ materially from those in the forward-looking statements are detailed in filings made byLife Technologies with the Securities and Exchange Commission.Life Technologies undertakes no obligation to update or revise any such forward-looking statements to reflect subsequent events or circumstances.

Read this article:

The Hospital for Sick Children in Toronto Adopts Life Technologies' Ion Proton™ Sequencer to Launch New Centre for ...

Psychiatrists often try two or more medications in a patient suffering with major depression before settling on the one that seems to work best for that individual. Sometimes, after several are tried and abandoned, two (or even three) are used in combination.

Medication selection is part of the art of psychiatry, but, now, testing is available that promises to make it more of a science. A company called AssureRx Health now offers what it calls GeneSightRxpharmacogenomic laboratory testing that helps identify which antidepressants are a good match for a persons genetic makeup, and which are not so good a match.

Sometimes, the testing reveals why three or four antidepressants havent worked for a patient, while pointing in the direction of one that might.

This is extremely good news, because psychiatrists have several different kinds of antidepressants to choose fromsome which increase the activity of the brain chemical messenger serotonin, some which increase the activity of the brain chemical messenger norepinephrine and some which increase both. And they do so by varying mechanisms, requiring the activity of different enzymes.

The technology behind GeneSightRx actually determines which genetic variantsin terms of the enzymes that are activated by antidepressantsa person possesses.

Different antidepressants affect the enzymes very differently. Hence, the testing can literally predict with some accuracy which antidepressants are likely to work in a particular person, and which are likely to cause the fewest side effects.

Recent studies have revealed that antidepressants dont work much better than placebo medications (sugar pills) for many patients. But those studies werent conducted by first selecting patients who are more likely (as determined by GeneSightRx) to respond to the particular medicine being studied.

Its very possible that patients given medications suggested by such testing would do far better than those given placebosbecause they arent being lumped together and given one medicine, regardless of their individual genetic makeup.

Moreover, since many patients discontinue their antidepressants due to side effects like sexual dysfunction and sleeplessness, choosing a medication that is metabolically and genetically less likely to cause these and other side effects makes good sense.

GeneSightRx also predicts which ADHD medications, antipsychotics and pain medications patients are likely to respond to and from which they are likely to experience fewer side effects.

Read more:

Genetic testing to choose the right antidepressant

London, June 18 (ANI): Early studies in mice have revealed that a diet high in cholesterol may help people with a fatal genetic disease, which damages the brain.

See the rest here:

High cholesterol diet helps mice with fatal genetic disease

Washington, June 16 (ANI): Lean type 2 diabetes patients have a larger genetic disposition to the disease as compared to their obese counterparts, a new study has proved.

See the original post:

New gene associated with lean diabetics identified

CHICAGO - The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.

The technology allows doctors to detect small or subtle chromosomal changes in a fetus - such as missing or extra pieces of DNA - that could be missed by standard tests.

Most parents will get results confirming a normal pregnancy. But some will learn that their baby has a birth defect, a developmental problem or other medical condition, and in a small number of cases the test will detect things that no one knows quite how to interpret.

The information can allow parents to prepare for early intervention and treatment, but it also could raise questions about terminating the pregnancy or lead to nagging worry over uncertain results.

The Reproductive Genetics Institute in Chicago, which has helped pioneer the rapidly developing field of prenatal diagnosis and testing, recently began offering the procedure - array comparative genomic hybridization, or array CGH for short - to any pregnant woman who wants it.

"The technology has been available for a number of years . but it has almost never been used prenatally," said Dr. Norman Ginsberg, an obstetrician specializing in prenatal genetic testing at the institute. "We think this is the beginning of the next generation of how we'll look at things."

Other medical experts see the technology as promising but have concerns about using it as a first-line test because of the potential drawbacks and the lack of published research. The availability of array CGH also raises fundamental, sometimes delicate, questions for parents.

How much do they want to know about their child's genetic makeup before he is born? How will they deal with the uncertainty of some test results, such as detection of chromosomal changes that have not been associated with diseases? Should the technology be used to identify diseases in their children that would not emerge until adulthood?

"This technology is giving genetic counselors and physicians a challenge in that there is more to discuss with patients, and it gives patients a lot more to think about in terms of what kinds of information they want to know about their baby prior to delivery," said Jennifer Hoskovec, director of prenatal genetic counseling services at the University of Texas Medical School at Houston.

Array CGH is just one of the newer microarray technologies expected to become widely available to parents.

The rest is here:

Prenatal genetic test offers more information, raises questions