StemCell Therapy

The Section of Genetic Medicine was created in May 2005 to both build research infrastructure in genetics within the Department of Medicine and to focus translational efforts related to genetics. As a result, the Section of Genetic is shaping the future of precision medicine with very active and successful research programs focused on the quantitative genetics, systems biology and genomics, and bioinformatics and computational biology. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine has a reputation for leading-edge research. In FY 14 the Section was awarded a large grant from the National Cancer Institute to build an Open Genomics Data Commons (OGDC)under the direction of Dr. Robert Grossman and is also home to the NIH funded Silvio O. Conte Center, led by Andrey Rzhetsky, PhD, where computational data-mining has been applied to understand the causes of neuropsychiatric disorders. We invite you to explore our website for more information about the Section.

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Genetic Medicine - The University of Chicago Department of ...

This article is about genetic tests for disease and ancestry or biological relationships. For use in forensics, see DNA profiling.

Genetic testing, also known as DNA testing, allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry or biological relationship between people. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins.[1] The variety of genetic tests has expanded throughout the years. In the past, the main genetic tests searched for abnormal chromosome numbers and mutations that lead to rare, inherited disorders. Today, tests involve analyzing multiple genes to determine the risk of developing certain more common diseases such as heart disease and cancer.[2] The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.[3][4]

Because genetic mutations can directly affect the structure of the proteins they code for, testing for specific genetic diseases can also be accomplished by looking at those proteins or their metabolites, or looking at stained or fluorescent chromosomes under a microscope.[5]

This article focuses on genetic testing for medical purposes. DNA sequencing, which actually produces a sequences of As, Cs, Gs, and Ts, is used in molecular biology, evolutionary biology, metagenomics, epidemiology, ecology, and microbiome research.

Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes."[6] It can provide information about a person's genes and chromosomes throughout life. Available types of testing include:

Non-diagnostic testing includes:

Many diseases have a genetic component with tests already available.

over-absorption of iron; accumulation of iron in vital organs (heart, liver, pancreas); organ damage; heart disease; cancer; liver disease; arthritis; diabetes; infertility; impotence[15]

Obstructive lung disease in adults; liver cirrhosis during childhood; when a newborn or infant has jaundice that lasts for an extended period of time (more than a week or two), an enlarged spleen, ascites (fluid accumulation in the abdominal cavity), pruritus (itching), and other signs of liver injury; persons under 40 years of age that develops wheezing, a chronic cough or bronchitis, is short of breath after exertion and/or shows other signs of emphysema (especially when the patient is not a smoker, has not been exposed to known lung irritants, and when the lung damage appears to be located low in the lungs); when you have a close relative with alpha-1 antitrypsin deficiency; when a patient has a decreased level of A1AT.

Elevation of both serum cholesterol and triglycerides; accelerated atherosclerosis, coronary heart disease; cutaneous xanthomas; peripheral vascular disease; diabetes mellitus, obesity or hypothyroidism

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Genetic testing - Wikipedia, the free encyclopedia

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being used studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Reviewed by: Larissa Hirsch, MD Date reviewed: April 2014 Originally reviewed by: Louis E. Bartoshesky, MD, MPH

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Genetics and Genetic Testing - KidsHealth

GENETIC TESTING TIME TOOLA Resource from the American College of Preventive Medicine

CLINICAL REFERENCEThe following Clinical Reference Document provides the evidence to support the Genetic Testing Time Tool. The following bookmarks are available to move around the Clinical Reference Document. You may also download a printable version for future reference.

Human genomics, the study of structure, function, and interactions of all genes in the human genome, promises to improve the diagnosis, treatment, and prevention of disease. The proliferation of genetic tests has been greatly accelerated by the Human Genome Project over the last decade. [1]

Meanwhile, practicing physicians and health professionals need to be trained in the principles, applications, and the limitations of genomics and genomic medicine. [2]

Over 1,500 genetic tests are now available clinically, with nearly 300 more available on a research basis only. The number of genetic tests is predicted to increase by 25% annually. [3] There is a boom in the development of genetic tests using the scanning technology from the Genome Project, but questions remain regarding the validity and usefulness of these newer tests.

Genotype: The genetic constitution of the individual; the characterization of the genes. [6]

Phenotype: The observable properties of an individual that are the product of interactions between the genotype and the environment. [6] Nucleotides: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. [6]

Oligonucleotide: A relatively short single-stranded nucleic-acid chain usually consisting of 2 to 20 nucleotides that is synthesized to match a region where a mutation is known to occur, and then used as a probe. [6]

Single nucleotide polymorphism (SNP): A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. [6]

Penetrance: The probability of developing the disease in those who have the mutation. [6]

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Genetic Testing Clinical Reference For Clinicians ...

Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially "floppy." Though this can and often does improve over time, most children with DS typically reach developmental milestones like sitting up, crawling, and walking later than other kids.

At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching.

Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace which is why it's important not to compare a child with DS against typically developing siblings or even other children with the condition.

Kids with DS have a wide range of abilities, and there's no way to tell at birth what they will be capable of as they grow up.

While some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect.

Kids with Down syndrome are also at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs. All infants with Down syndrome should be evaluated by a pediatric cardiologist.

Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts.

Regular evaluations by an otolaryngologist (ear, nose, and throat doctor), audiologist, and an ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills.

Other medical conditions that may occur more frequently in kids with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Upper neck abnormalities are sometimes found and should be evaluated by a doctor (these can be detected by cervical spine X-rays). Fortunately, many of these conditions are treatable.

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Kids Health - Down Syndrome

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.

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

CARLSBAD, Calif., May 31, 2012 /PRNewswire/ --Life Technologies Corporation (LIFE) today announced the 5500xl W Genetic Analyzer has radically simplified the next generation sequencing workflow, as well as significantly improved the economics of sequencing.The 5500xl W combines unique, rapid in-situ template preparation with the industry leading accuracy and pay-per-lane sequencing already well associated with the 5500 Series Genetic Analyzers.Now with the Wildfire upgrade, 5500 Series Genetic Analyzers are transformed into the most affordable, flexible and accurate optical-based system in the next generation sequencing marketplace.

This simple and rapid on-instrument "Wildfire" template preparation technology completely eliminates all tedious and time consuming steps associated with the previous sample preparation methodology. The Wildfire based template preparation takes only two hours and reduces the price of 5500xl sequencing by 50% - delivering the lowest price per read for any next generation sequencer. The 5500xl W upgrade is available to any existing 5500 or 5500xl Genetic Analyzer customer.

The 5500xl W Genetic Analyzer is now capable of delivering the highest number of tags of any next generation sequencer for RNA sequencing experiments. The combination of inexpensive Wildfire template preparation and, pay-per-lane functionality, also enables low price human exome sequencing.

Customers can directly experience the high quality of 5500xl W data by submitting libraries to the Life Technologies Sequencing Center, (LTSC). Researchers interested in using this service should contact SeqCenter@lifetech.com.The LTSC will perform exome or transcriptome sequencing at affordable promotional pricing. For more detailed information regarding the 5500xl W technology, including pricing, please visit http://www.lifetechnologies.com/5500xlW

Customers Experiencing the Benefits of the 5500xl WThe first 5500xl W Genetic Analyzer has now been installed and is operational in Dr. Edwin Cuppen's laboratory within the Medical Genetics Department of the University Medical Center in Utrecht, The Netherlands. The Cuppen lab works in partnership with the Hubrecht Institute and has a strong reputation for combining experimental methods, including next generation sequencing technology and animal model studies.The lab uses special bioinformatics approaches to identify functional elements in genomes and understand the effects of genetic variation under normal and disease conditions.Dr. Edwin Cuppen will be using the 5500xl W Genetic Analyzer tofocus on large scale whole genome structural variation studies.

Dr. Cuppen said "We are very excited to have 5500xl W Genetic Analyzer installed in our laboratory. The simplified workflow and dramatically increased throughput will have an enormous impact on our ongoing and future experiments. Based on our collaboration with Life Technologies, this technology will enable us to perform next generation sequencing with the best accuracy and fast and simple in-situ template preparation. We will use data from the 5500xl W Genetic Analyzer in our high throughput human structural variation study using mate-pair sequencing. This will enable us to survey dozens of genomes at high resolution and sensitivity in just a single lane."

"We are extremely grateful to Dr. Cuppen for his commitment to the 5500 platform with Wildfire technology," said Mark Gardner, vice president and general manager, 5500 business at Life Technologies. "Customers can now place orders for the Wildfire upgrade in every region, and we anticipate that many of our 5500 customers will choose to upgrade in order to take advantage of this revolutionary advancement in the system's workflow, price, and throughput.By combining pay-per-lane flexibility with Wildfire, 5500 customers will achieve the industry's lowest price per read and highest base-calling accuracy with a simple, low cost upgrade."

For research use only. Not for use in diagnostic procedures.

About Life TechnologiesLife 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 Statement This 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.

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Wildfire Upgrade Shaves a Day From the Workflow, Cuts Price of Next Generation Sequencing by 50%, and Maintains ...

ASTANA, Kazakhstan, May 24, 2012 /PRNewswire/ --Sir Richard Roberts, the eminent British biologist and Nobel Prize laureate, said today European opposition to genetically modified organisms is political rather than scientific in nature.

He also said "personal medicine" based on human genome research holds large-scale promise to improve the health of the world's people on an individualized basis.

Roberts, who won the Nobel in 1993 for his shared discovery of split genes, made his remarks at the Astana Economic Forum, a global conference of scientists, academics, multinational executives and government leaders.

"On a political level, governments must embrace genetically modified organisms (GMOs) and not give way to European prophets of doom, who oppose the use of GMOs for purely political reasons," said Roberts. "It is important to note there is a complete absence of evidence that GMOs can cause any harm. Indeed to any well-informed scientist, traditionally bred plants seem much more likely to be harmful than GMOs."

Roberts predicted growing knowledge of the human genome will yield better medical treatments and diagnostics. "It is just as important that we learn more about the bacteria that colonize our bodies since they are an essential part of what it means to be human," he said.

He also predicated synthetic biology will enable scientists to build novel microorganisms from "scratch."

"Most exciting is the promise of stem cells where the challenge is to understand how they drive their differentiation into all of the other cell types in our bodies," Roberts said. "While I do not advocate prolonging life indefinitely, I am very much in favor of ensuring that as we age, the quality of our life does not diminish."

The annual Astana Economic Forum this year has drawn thousands of participants from more than 80 nations to this rapidly growing Central Asian nation. There has been much focus at the current sessions on the Greek financial crisis and turbulence in the Euro currency, in addition to the broader economic, scientific and international trade issues that are a traditional mainstay at Astana.

Deal making is a big part of both the official and the unofficial agenda at Astana. Multinationals represented include Chevron, Toyota, Nestle, Microsoft, BASF, Total, General Electric.

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Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Free text in electronic health records, with the help of natural language processing (NLP) technology, can be used to create accurate clinical decision support (CDS) tools, according to a study published this week in the Journal of the American Medical Informatics Association

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Read about why a Qualcomm Life executive says mobile health doesn’t yet have an Instagram, and why it eventually will.

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Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
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Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
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 Quintiles and the American Diabetes Association announced a strategic agreement in which Quintiles’ Digital Patient Unit will provide the Association’s millions of website users access to Quintiles’ medication monitoring service.

The Association’s constituents who opt in for the service will receive free safety checks of their medications to identify potential interactions and other risk factors, which are already provided to the 2.5 million registered users of Quintiles’ http://www.MediGuard.org. Registrants will also be eligible to participate in select direct-to-patient programs to benefit their medical conditions and advance global diabetes patient care.

The Association’s constituents may opt in to this service from the Association’s website http://www.Diabetes.org

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 Quintiles and the American Diabetes Association announced a strategic agreement in which Quintiles’ Digital Patient Unit will provide the Association’s millions of website users access to Quintiles’ medication monitoring service.

The Association’s constituents who opt in for the service will receive free safety checks of their medications to identify potential interactions and other risk factors, which are already provided to the 2.5 million registered users of Quintiles’ http://www.MediGuard.org. Registrants will also be eligible to participate in select direct-to-patient programs to benefit their medical conditions and advance global diabetes patient care.

The Association’s constituents may opt in to this service from the Association’s website http://www.Diabetes.org

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On March 29, 2012, Oracle announced that it has agreed to acquire ClearTrial, a leading provider of cloud-based Clinical Trial Operations and analytics products that make the planning, sourcing, and tracking of clinical projects and financial performance…

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On March 29, 2012, Oracle announced that it has agreed to acquire ClearTrial, a leading provider of cloud-based Clinical Trial Operations and analytics products that make the planning, sourcing, and tracking of clinical projects and financial performance…

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Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)

OTTAWA, March 29, 2012 /CNW/ - Developed in Canada and conducted by researchers from the University of Ottawa Heart Institute (UOHI), in partnership with Spartan Bioscience, the world's first bedside genetic test has received acknowledgment by The Lancet, the world's leading general medical journal.

The article Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial, reports on the use of a simple cheek swab test, the Spartan RX CYP2C19, performed by nurses at the patient's bedside. This revolutionary technology allows doctors to rapidly identify patients with a genetic variant known as CYP2C19*2. Cardiac stent patients with this variant are at risk of reacting poorly to standard anti-platelet therapy with Plavix (clopidogrel).

The study demonstrated that tailored drug treatment therapy made possible by the genetic testing successfully protected all of the patients with the at-risk genetic variant from subsequent adverse events, while 30 per cent of patients treated with standard therapy did not receive adequate protection.

"For the first time in medicine, nurses were able to perform DNA testing at the patient's bedside. This is a significant step towards the vision of personalized medicine," said Dr. Derek So, Interventional Cardiologist at the University of Ottawa Heart Institute (UOHI), and principal investigator of the RAPID GENE study.

Study Details The RAPID GENE study enrolled 200 patients who were being treated with cardiac stenting for an acute coronary syndrome or stable angina. Patients were randomized to a treatment strategy of rapid point-of-care genotyping and Effient (prasugrel) for CYP2C19*2 carriers, or to standard therapy with Plavix (clopidogrel). The Spartan RX CYP2C19 bedside DNA test was performed by nurses who received a 30-minute training session, but had no prior laboratory training. The test had a sensitivity of 100% and a specificity of 99.4% compared with DNA sequencing. For CYP2C19*2 carriers, treatment with prasugrel completely eliminated High on-treatment Platelet Reactivity (HPR). HPR is a marker for patients at risk of complications after stenting. In contrast, 30.4% of carriers receiving clopidogrel had HPR at 1 week.

About UOHI As Canada's largest and foremost cardiovascular health centre, the University of Ottawa Heart Institute is dedicated to understanding, treating, and preventing heart disease. We deliver high-tech care with a personal touch, shape the way cardiovascular medicine is practiced, and revolutionize cardiac treatment and understanding. We build knowledge through research and translate discoveries into advanced care. We serve the local, national, and international communities as we pioneer a new era in heart health.

Image with caption: "Dr. Derek So and Dr. Jason Roberts. (CNW Group/OTTAWA HEART INSTITUTE, UNIVERSITY OF OTTAWA)". Image available at: http://photos.newswire.ca/images/download/20120329_C8698_PHOTO_EN_11670.jpg

INFORMATION AND INTERVIEWS Vincent Lamontagne Senior Manager Public Affairs University of Ottawa Heart Institute 613-761-4427 613-899-6760 (cell) vlamontagne@ottawaheart.ca

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World's first bedside genetic test gets green light by prestigious medical publication

WEDNESDAY, March 21 (HealthDay News) -- Men worried about encroaching baldness, take heart: A genetic analysis of tissue taken from both bald and hairier spots on men's scalps has identified a protein involved in male pattern hair loss.

The researchers note that drugs that inhibit the protein are already in development, and it's possible those drugs could one day be used to help men preserve their head of hair.

In the study, researchers from the Perelman School of Medicine at the University of Pennsylvania did an analysis of more than 25,000 genes and honed in on one that produces an enzyme that produces a protein known as PGD2. That protein is present in much higher levels in bald spots.

When scientists placed PGD2 on hair follicles in a petri dish, they found the protein inhibited hair growth.

Researchers then tested the protein on mice genetically engineered to lack a receptor for PGD2, and found that hair growth was unaffected. But when PGD2 was applied to mice that have a different receptor (GPR44), the mice grew less hair.

PGD2 is a type of prostaglandin, or a hormone-like substance known to be involved in many body functions, including regulating the contraction and relaxation of smooth muscle tissue. Drugs that inhibit PGD2, for example, are being studied for use in preventing airway constriction in asthma.

"Several companies have compounds in development that block the receptor for PGD2. Those compounds are being studied to treat asthma," said senior study author Dr. George Cotsarelis, chair and professor of dermatology at University of Pennsylvania School of Medicine in Philadelphia. "We think using these compounds topically . . . could slow down and possibly reverse baldness."

The study is published in the March 21 issue of the journal Science Translational Medicine.

About 80 percent of white men have some degree of hair loss before age 70, according to background information in the study. In balding men, hair follicles don't disappear, but they shrink and produce very small, even microscopic hairs, Cotsarelis explained.

The belief is that something is inhibiting the follicle from growing a normal hair. One of those factors seems to be PGD2, which was found near stem cells in the follicle, which are important in hair growth, Cotsarelis explained.

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Research Spots Potential New Target in Fight Against Baldness