Many high-risk patients with breast cancer aren’t getting genetic testing. Here’s why. – Washington Post

Doctors often fail to recommend genetic testing for breast-cancer patients, even those who are at high risk for mutations linked toovarian and other cancers, according to a study published Tuesday.

Researchers said the findings, which appear online in the Journal of the American Medical Association, are troubling because genetic tests can help guide women's choice of treatments for existing disease, as well as point to ways to reduce the risk of future cancer. Women who have a dangerous mutation might choose to have more stringent screening or opt to have surgery before a cancer develops, they said.

The study also found that many women who would benefit from genetic counseling do not receive it.

Genetic testing can be a powerful tool for certain women, said study author Reshma Jagsi, a radiation oncologist at the University of Michigan Health System. It is worrisome to see so many of these women at highest risk for mutations failing even to have a visit focused on genetic counseling.

Genetic tests can identify mutations of the BRCA genes, which are linked to ovarian, breast and other cancers. The tests were developed two decades ago but were initially costly. In recent years, faster, cheaper versions have become available.

[Why more men should be tested for mutations in breast cancer genes]

For the study, researchers surveyed more than 2,500 breast-cancer patients in two regions of the United States two months after they had undergone surgery in 2013 and 2014. They asked whether the women had been interested in genetic testing and whether they had received it.

Although two-thirds of the women reported wanting genetic testing, less than a third actually got it, the study found. About 8 in 10 women at highest risk for BRCA mutations because of family history or ancestry said they had wanted testing, but only a little more than half received it.

Many of the women said they didn't get tested because their doctors never recommended it. A smaller number said the testing was too expensive.

The results suggest that many doctors do not recognize the importance of genetic testing for high-risk women, researchers said.

This is our problem, said Theodora Ross, director of the University of Texas Southwestern Medical Center's cancer genetics program. How do we educate the doctors?

When it comes to cancer screening, most doctors are playing to where the puck is rather than where it's going, added Ross, who was not involved in the study.

Asian Americans and older women were among those most likely to not get testing.

Genetic counseling and testing are not well-matched to medical need, said Allison Kurian, associate professor of medicine and of health research and policy at Stanford University School of Medicine. Kurian, the lead author of the study, said that more genetic counselors are needed and that doctors should improve their skills in managing cancer risk and communicating with patients.

The researchers said the limitations of the study included the fact that it was based on patients' own accounts a point echoed by Ross. She said she would like to know what the doctorshad to say about these cases.

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Many high-risk patients with breast cancer aren't getting genetic testing. Here's why. - Washington Post

Studies point way to precision therapies for common class of genetic disorders – Medical Xpress

February 7, 2017 by Adam Hadhazy Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that affect approximately one child out of 1,000 and are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems. The researchers observed in zebrafish and fruit fly embryos how cancer-related mutations in the RAS pathway a biochemical system cells use to transmit information from their exterior to their interior caused severe deformations. Fruit-fly embryos (above) showed how signals at the early stage of development (red in top photo) activate genes (purple in middle photo) and pattern structures in the fly larva (bottom photo.) . Credit: Stanislav Shvartsman, Department of Chemical and Biological Engineering

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial features, developmental delays, cognitive impairment and heart problems. The findings could help point the way toward personalized precision therapies for these conditions.

Although not widely known, RASopathies are among the most common genetic disorders, affecting approximately one child out of 1,000. RASopathies are caused by mutations within the RAS pathway, a biochemical system cells use to transmit information from their exterior to their interior.

"Human development is very complex and it's amazing that it goes right so often. However, there are certain cases where it does not, as with RASopathies," said Granton Jindal, co-lead author of the two studies. Both Jindal and the other co-lead author, Yogesh Goyal, are graduate students in the Department of Chemical and Biological Engineering and the Lewis-Sigler Institute for Integrative Genomics (LSI). Jindal and Goyal do their thesis research in the lab of Stanislav Shvartsman, professor of chemical and biological engineering and LSI.

"Our new studies are helping to explain the mechanisms underlying these disorders," Jindal said.

These studies were published this year, one in the Proceedings of the National Academy of Sciences (PNAS) and the other in Nature Genetics online. The researchers made the discoveries in zebrafish and fruit fliesanimals commonly used as simplified models of human genetics and Jindal and Goyal's specialties, respectively. Due to the evolutionary similarities in the RAS pathway across diverse species, changes in this pathway would also be similar. Thus, it is likely that significant parts of findings in animals would apply to humans as well, although further research is needed to confirm this.

The first paper published Jan. 3 in PNAS presented a way to rank the severity of different mutations involved in RASopathies. The researchers introduced 16 mutations one at a time in developing zebrafish embryos. As each organism developed, clear differences in the embryos' shapes became evident, revealing the strength of each mutation. The same mutant proteins produced similarly varying degrees of defects in fruit flies. Some of the mutations the researchers tested were already known to be involved in human cancers. The researchers noted that these cancer-related mutations caused more severe deformations in the embryos, aligning with the medical community's ongoing efforts to adapt anti-cancer compounds to treat RASopathies.

"Until now, there was no systematic way of comparing different mutation severities for RASopathies effectively," Goyal said.

Jindal added, "This study is an important step for personalized medicine in determining a diagnosis to a first approximation." The study therefore suggested a path forward to human diagnostic advances, potentially enabling health care professionals to offer better diagnoses and inform caretakers about patients' disease progression.

The study went further and examined the use of an experimental cancer-fighting drug being investigated as a possible way to treat RASopathies. The researchers demonstrated that the amount of medication necessary to correct the developmental defects in the zebrafish embryos corresponded with the mutation's severitymore severe mutations required higher dosages.

The more recent paper, published online by Nature Genetics Feb. 6, reports an unexpected twist in treatment approach to some RASopathies. Like all cellular pathways, the RAS pathway is a series of molecular interactions that changes a cell's condition. Conventional wisdom has held that RASopathies are triggered by overactive RAS pathways, which a biologist would call excessive signaling.

The Nature Genetics study, however, found that some RASopathies could result from insufficient signaling along the RAS pathway in certain regions of the body. This means that drugs intended to treat RASopathies by tamping down RAS pathway signaling might actually make certain defects worse.

"To our knowledge, our study is the first to find lower signaling levels that correspond to a RASopathy disease," Goyal said. "Drugs under development are primarily RAS-pathway inhibitors aimed at reducing the higher activity, so maybe we need to design drugs that only target specific affected tissues, or investigate alternative, novel treatment options."

The Nature Genetics study also found that RAS pathway mutations cause defects by changing the timing and specific locations of embryonic development. For example, in normal fruit fly cells, the RAS pathway only turns on when certain natural cues are received from outside the cell. In the mutant cells, however, the RAS pathway in certain parts of fly embryo abnormally activated before these cues were received. This early activation disturbed the delicate process of embryonic development. The researchers found similar behavior in zebrafish cells.

"Our integrative approach has allowed us to make enormous progress in understanding RASopathies, some of which have just been identified in the last couple of decades," Shvartsman said. "With continued steps forward in both basic and applied science, as we've shown with our new publications, we hope to develop new ideas for understanding and treatment of a large class of developmental defects."

Princeton co-authors of the two papers include Trudi Schpbach, the Henry Fairfield Osborn Professor of Biology and professor of molecular biology, and Rebecca Burdine, an associate professor of molecular biology, as well as co-advisers to Goyal and Jindal; Alan Futran, a former graduate student in the Department of Chemical and Biological Engineering and LSI; graduate student Eyan Yeung of the Department of Molecular Biology and LSI; Jos Pelliccia, a graduate student in the Department of Molecular Biology; seniors in molecular biology Iason Kountouridis and Kei Yamaya; and Courtney Balgobin Class of 2015.

Bruce Gelb, a pediatric cardiologist specializing in cardiovascular genetics and the director of the Mindich Child Health and Development Institute at the Mount Sinai School of Medicine in New York, described the two new studies as "wonderful" in advancing the understanding of altered biology in RASopathies and developing a framework for comparing mutation strengths, bringing effective treatments significantly closer.

"At this time, most of the issues that arise from the RASopathies are either addressed symptomatically or cannot be addressed," Gelb said. "The work [these researchers] are undertaking could lead to true therapies for the underlying problem."

Explore further: New insight into RASopathy-associated lymphatic defects

More information: Granton A. Jindal et al. In vivo severity ranking of Ras pathway mutations associated with developmental disorders, Proceedings of the National Academy of Sciences (2017). DOI: 10.1073/pnas.1615651114

Yogesh Goyal et al. Divergent effects of intrinsically active MEK variants on developmental Ras signaling, Nature Genetics (2017). DOI: 10.1038/ng.3780

The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling.

Researchers have successfully targeted an important molecular pathway that fuels a variety of cancers and related developmental syndromes called "Rasopathies."

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Studies point way to precision therapies for common class of genetic disorders - Medical Xpress

Genetic test to predict opioid risk lacks proof, experts say – Philly.com – Philly.com

It sounds like a godsend for America's opioid epidemic: genetic tests that can predict how a patient will respond to narcotic painkillers, as well as an individual's risk of misuse, addiction, and potentially deadly side effects.

Proove Biosciences of Irvine, Calif., claims its "opioid response" and "opioid risk" tests are the only precision medicine tools on the market to do all that, giving doctors information "to guide opioid selection and dosage decisions as well as treat side effects."

But while the concept is captivating, addiction researchers say it is not yet possible to use genetic variation to gauge the risk of drug abuse. And ECRI Institute, a Plymouth Meeting nonprofit center that evaluates medical technology, says Proove has not published independently reviewed studies to support its claims.

"We cant say it doesnt work. All we can say is, theres no evidence it does," said ECRI research analyst Jeff Oristaglio.

In an interview, Proove CEO Brian Meshkin defended his five-year-old products, which he said retail for $1,000 a test and were used by about 400 doctors last year in treating 50,000 patients. He said he expects scientific journals to publish results from studies "within the next six months." Three clinical trials of the opioid response test are ongoing.

Consumers may assume that such high-tech genetic tests have to demonstrate safety and effectiveness to win regulatory approval, but they do not. Even though these complex diagnostics use the latest gene-sequencing and data-crunching techniques, they can come to market under 1988 federal regulations designed to ensure the quality of clinical laboratories.

Two years ago, the U.S. Food and Drug Administration proposed a new framework for overseeing "lab-developed tests" that would take into account their complexity and riskiness, because inaccurate or false results can harm patients. But the agency withdrew the controversial proposal after the November election, saying it needed "to continue to work with stakeholders, our new administration, and Congress."

Proove is one of many companies in the fast-growing genetic-susceptibility testing market, a multi-billion industry built on trying to foresee and thus, forestall disease, disability, and death.

Opioid-related deaths have become an urgent public-health crisis. Every day, on average, 3,900 people start abusing prescription painkillers, 580 graduate to cheaper heroin, and 78 die of a narcotic overdose, according to federal data.

In theory, genetics provides an opportunity to reduce this toll. Researchers have linked a predisposition to opioid dependency to gene variants involved in the brain's signaling of reward and pleasure. Addictive behavior, particularly alcohol abuse, is known to run in families.

But addiction experts say risky behavior involves the largely unpredictable interplay of environmental, cultural, and biological factors.

"It is hard to conceive of a genetic test or a genetic score that would be valuable as a predictor of opiate abuse or addiction in general," said Michael Vanyukov, a University of Pittsburgh professor of pharmaceutical sciences, psychiatry and human genetics.

Vanyukov, who wasn't familiar with Proove's products, said heredity plays a relatively small role in determining variation in addiction risk, while choices and perceptions can play a big role. "If the individual is informed of, say, a 'low' risk score, this very piece of information will change the risk. The error of a genetic score is likely to be great, and reliance on it in practice may be dangerous."

Psychiatrist Charles OBrien, founding director of the University of Pennsylvania's Center for Studies of Addiction, was also unfamiliar with Proove's test, but echoed that sentiment: "I could not in good conscience recommend that someone spend money on these tests."

O'Brien's own center recently identified gene variants associated with response to naltrexone, a drug that blocks the intoxicating effects of alcohol. But when the center studied alcoholics on naltrexone, strong and weak responders had the same number of heavy drinking days.

"We were very disappointed because we're all looking for precision medicine," O'Brien said.

Proove's tests analyze DNA from a cheek swab. The opioid risk test gives the patient a score low, moderate, or high risk of opioid abuse that is based on detecting variants in 12 genes, combined with clinical information such as a history of depression. The company's website claims the algorithm is 93 percent accurate.

But when ECRI scientists looked to validate that claim, all they could find were brief summaries of two studies that the company presented at medical conferences. One studyof 290 patients compared the Proove risk test with the "opioid risk tool," a standard, one-minute screening questionnaire that doctors use to ask chronic pain patients about risk factors such as a history of mental illness or substance abuse.

"We cannot determine ... whether the test performs better or worse than the opioid risk tool in predicting opioid misuse," ECRI concluded.

Insurance plans either consider Proove's tests unnecessary or have no specific policies, ECRI found, although Meshkin said insurers are covering the cost "on a case-by-case basis."

"At some point, you've got to stop and produce the evidence if you want people to pay," said Diane Robertson, director of ECRI's health technology assessment service. "Why would anyone want to use something if there is no evidence that it has benefit?"

Published: February 6, 2017 10:09 AM EST The Philadelphia Inquirer

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Genetic test to predict opioid risk lacks proof, experts say - Philly.com - Philly.com

Precision Medicine: How Phoenix Children’s is translating genetic code into lifesaving treatments – FOX 10 News Phoenix

PHOENIX - When a child is diagnosed with cancer, it can be emotionally overwhelming. At Phoenix Childrens, more than 300 children were diagnosed with pediatric cancer last year. The good news is, with 50 percent of these children involved in clinical trials, cure rates have jumped to 90 percent for most types of pediatric leukemia.

Jessica Boklan, MD is the director of clinical oncology research and the Early Drug Development Program, and co-director of the Leukemia Program at Phoenix Children's. She supervises all oncology clinical trials carried out at the hospital, concentrating on evaluating new drugs for patients who do not respond to currently available pediatric cancer treatments.

A new and innovative treatment, known as precision medicine, has surfaced within the past few years. Precision, or personalized, medicine uses genetic information to determine the right treatment for the right patient at the right time. By studying a patient's genetic makeup, researchers can identify their susceptibility to disease, predict their response to a particular drug and match the patient with a personalized therapy.

In May 2016, Hannah and Brooklyn were diagnosed with acute lymphoblastic leukemia, cancer of the blood. The girls received their diagnosis one day apart from each other. Under the care of Dr. Boklan, they receive treatment one to two times each week at the Center for Cancer and Blood Disorders at Phoenix Childrens. Since their diagnosis, Hannah and Brooklyn, as well as their families, have become the best of friends.

The Center for Cancer and Blood Disorders at Phoenix Children's Hospital is the largest pediatric program of its kind in Arizona, providing complete care for children diagnosed with malignancies and hematologic diseases. Call (602) 933-0920 for information.

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Precision Medicine: How Phoenix Children's is translating genetic code into lifesaving treatments - FOX 10 News Phoenix

Precision-medicine approach could revive prostate cancer test – Science Daily

Precision-medicine approach could revive prostate cancer test
Science Daily
A new study led by researchers at UC San Francisco and Kaiser Permanente has identified genetic predictors of normal prostate-specific antigen (PSA) levels in healthy men, which could be used to improve the accuracy of PSA-based prostate cancer ...

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Precision-medicine approach could revive prostate cancer test - Science Daily

Research consortium identifies 13 new genetic regions associated with COPD and shared risk factors for pulmonary … – Science Daily


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Research consortium identifies 13 new genetic regions associated with COPD and shared risk factors for pulmonary ...
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... only uncovered new genetic risk factors for COPD, but also shown overlap of COPD genetic risk with the risk to asthma and pulmonary fibrosis," said lead author Brian Hobbs, MD, MMSc a physician-researcher in the Channing Division of Network ...
World lung health study allows scientists to predict your chance of developing COPDMedical Xpress

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Research consortium identifies 13 new genetic regions associated with COPD and shared risk factors for pulmonary ... - Science Daily

Gene therapy allows deaf mice to hear: study – Yahoo News

Paris (AFP) - Gene therapy delivered by a benign virus enabled deaf lab mice to hear for the first time, researchers said Monday, offering hope for people with genetic hearing impairments.

The breakthrough could pave the way for gene-based treatments, they reported in two studies, published in Nature Biotechnology.

"With more than 100 genes already known to cause deafness in humans, there are many patients who may eventually benefit from this technology," said Konstantina Stankovic, a professor at Harvard Medical School.

Genetic hearing disorders affect some 125 million people worldwide, according to the World Health Organization.

An expert not involved in the research welcomed the findings as "very encouraging", but cautioned the technique has yet to be proven safe, and that human trials are likely years away.

In the first study, Stankovic and colleagues used a harmless virus to transport -- deep into the mouse ear -- a gene that can fix a specific form of hereditary deafness.

Previous attempts had failed, but this time the viral package was delivered to the right address: the so-called outer hair cells that "tune" the inner ear to sound waves.

"Outer hair cells amplify sound, allowing inner hair cells to send a stronger signal to the brain," explained Gwenaelle Geleoc, a researcher at the F.M. Kirby Neurobiology Center at Boston Children's Hospital.

The technique bestowed hearing and balance "to a level that's never been achieved before," she said in a statement.

"Now you can whisper, and the mice can hear you."

In the second study, a team led by Geleoc used the same viral courier to treat mice with a mutated gene responsible for Usher syndrome, a rare childhood genetic disease that causes deafness, loss of balance, and in some cases blindness.

The virus carried a normal version of the same gene to damaged ear hair cells soon after the mice were born.

- Narrow time window -

The results far exceeded anything to date: 19 of 25 treated mice heard sounds quieter than 80 decibels. Normal human conversation is about 70 decibels.

A few of the mice could hear sounds as soft as 25 to 30 decibels -- roughly equivalent to whispering.

According to Margaret Kenna, a specialist in genetic hearing loss at Boston Children's Hospital not involved in the studies, "cochlear implants are great, but your own hearing is better."

Electronic implants work by bypassing damaged hair cells in the ear to send sound signals directly to the brain.

"Anything that could stabilise or improve native hearing at an early age would give a huge boost to a child's ability to learn and use spoken language," she said.

The need for early intervention, however, could be a problem in itself, other experts pointed out.

In humans, such an intervention would ideally have to happen before a child is born, said Jonathan Ashmore, a professor at University College London's Ear Institute.

Alan Boyd, president of Britain's Faculty of Pharmaceutical Medicine hailed "a very encouraging result".

"But it is only a mouse model," he cautioned, noting that it is still unknown how the human immune system might react.

Any gene deafness treatment is "at least three years away, if not more," Boyd conjectured.

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Gene therapy allows deaf mice to hear: study - Yahoo News

DNA changes that affect human height uncovered – Medical News Today

A large-scale international study of more than 700,000 adults reveals 83 new genetic variations that control human height. Understanding the genetics of human height may help to develop genetic tools to predict a person's risk for common diseases, suggest researchers.

The Genetic Investigation of Anthropometric Traits (GIANT) Consortium - an international collaboration that researches the genetics that modulate human body size and shape, including measures of height and obesity - discovered the new genetic variations.

Previous studies have used genome-wide association studies (GWAS) to locate genetic variants. This method rapidly scans across the genomes of large populations for markers that track with a particular trait.

GWAS is successful at finding common genetic variants. However, most of these only alter height by under 1 millimeter. GWAS unsuccessfully captures uncommon genetic variants that may have a larger affect on height.

Another problem is that common genetic variants that track with traits lie outside the protein-coding parts of genes. This positioning makes it harder to find out which genes they affect.

In the new study, the investigators decided to use another technology called the ExomeChip in order to overcome some of the issues experienced with GWAS. ExomeChip tested for almost 200,000 known genetic variants that are less common in the 711,428 adults included in the study.

These known variants can be used as a shortcut to work out the genes that are important for particular diseases or traits. Most of these variants had not yet been assessed in previous studies of height.

Out of the 83 uncommon variants identified that affect human height, 51 of them were "low-frequency" variants that are found in less than 5 percent of people, and 32 of them were rare variants found in less than 0.5 percent.

"Of these 83 genetic variations, some influence adult height by more than 2 centimeters, which is enormous," says Guillaume Lettre, a professor at the Universit de Montral's Faculty of Medicine and researcher at the Montreal Heart Institute. "The genes affected by these genetic variations modulate, among other things, bone and cartilage development and growth hormone production and activation," he adds.

Lettre co-led the study with professors Joel Hirschhorn - of Boston's Children's Hospital, MA, and the Broad Institute of MIT and Harvard, and chair of the GIANT Consortium - and Panos Deloukas - of the Queen Mary University of London in the United Kingdom. Almost 280 other research groups were also involved.

The team notes that 27.4 percent of the heritability of height is now accounted for, with most heritability still explained by common genetic variants.

The study also found several genes that could potentially be targeted therapeutically for children with growth problems.

One of the genes, STC2, had DNA changes that significantly affected height. Genetic changes that inactivate the STC2 gene increase the height of individuals who carry them in their DNA by 1-2 cm, by acting on certain growth factors. "In this sense, evaluating whether drugs that block STC2 activity could have an impact on growth seems to us very promising," says Lettre.

"The success of our study was due to our large sample size," says Prof. Deloukas. "Our results suggest that our genetic approach works. We can now start identifying similar genetic variations that may influence the risk of developing common diseases such as diabetes, cancer, schizophrenia, and cardiovascular disease, to name just a few."

Lettre says that adult height was used as a simple trait to understand how information in DNA can explain how individuals are different. "The idea was that if we could understand the genetics of human height, we could then apply this knowledge to develop genetic tools to predict other traits or the risk of developing common diseases," he adds.

Precision medicine is an emerging approach that involves customizing treatments and prevention measures to an individual patient. Lettre and colleagues suggest that the findings of the study could help to identify genetic variations that increase a person's risk of developing diseases. If this were the case, pinpointing these variations would be valuable in precision medicine.

"This study has shown that rare protein-altering variants can be helpful at finding some of the important genes, but also that even larger sample sizes will be needed to completely understand the genetic and biologic basis of human growth and other multifactorial diseases."

Prof. Hirschhorn

The GIANT Consortium's future work will focus on a GWAS of height, including more than 2 million people and studies involving sequencing data. "We predict that these more comprehensive studies will continue to enhance our understanding of human growth and how best to attain the biological insights that will inform treatments for common diseases," concludes Hirschhorn.

Learn about a study that has uncovered 14 new genetic disorders in children.

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DNA changes that affect human height uncovered - Medical News Today

Toxicology Conferences 2017 | Pharmacology Conferences …

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On behalf of Conference Series LLC we are pleased to welcome you all to Chicago, Illinois, USA to attend the 10th Global Summit on Toxicology and Applied Pharmacology during July 20-22, 2017

Toxicology 2017 is one of the most significant conferences in the world where it contains many disciplines related to the research work and which are prominent in the field it is a leading platform to debate and acquire about the present and developing research works of Toxicology and Pharmacology. Toxicology 2017 which is scheduled at Chicago, USA influences main and important advances in the field. The conference may lead to long-lasting scientific collaborations.

Track 1: Toxicology and Pharmacology

The connected discipline of toxicology includes the study of the nature and mechanisms of deleterious effects of chemicals on living beings. The study of toxicology as a distinct, yet related, discipline to pharmacology highlights the emphasis of toxicologists in formulating measures aimed at protective public health against exposures associated with toxic materials in food, air and water, as well as hazards that may be related with drugs. The word pharmacology itself comes from the Greek word. Pharmacology not only includes the sighting of drugs, but also the study of their biochemical properties, mechanisms of action, uses and biological effects.

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9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; Society of Toxicology; Academy of Toxicological Sciences; American Board of Toxicology; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; EUROTOX; German Society of Toxicology

Track 2: Mechanisms of Toxicity

Mechanisms of toxicity are important in both practical and theory wise. It provides a rational basis for understanding descriptive toxicity data, approximating the possibility that a substance will cause risky effects, establishing measures to avoid or antagonize the toxic effects, designing drugs and industrialized chemicals that are fewer hazardous, and evolving pesticides that are more selectively poisonous for their target organisms.

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9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 5th Immunogenicity & Immunotoxicity Conference on February 6-7, 2017 in San Diego, CA; 2nd International Conference on Pollutant Toxic Ions and Molecules, 6 - 9 November 2017, Lisbon, Portugal; Stem Cells in Drug Discovery & Toxicity Screening, July 10-11, 2017, Boston, USA; 19th International Conference on Predictive Human Toxicity, February 16 - 17, 2017, London, United Kingdom; Predicting Drug Toxicity, June 13-14, 2017, Boston, USA; Academy of Toxicological Sciences; EUROTOX; American Board of Toxicology; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association;

Track 3: Molecular Toxicology

Molecular toxicology, the use of sub-atomic science standards and advancements to preclinical wellbeing appraisal, speaks to a key apparatus for comprehension systems of danger and surveying the dangers connected with toxicities. The utilization of quality expression markers to early stage preclinical security evaluation can possibly affect pipelines in two fundamental zones: lead improvement and issue administration.

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International Conference on Molecular Evolution July 18-19, 2016 Bangkok, Thailand; 2nd World Congress on Molecular Genetics and Gene Therapy July 3-5, 2017 Bangkok, Thailand; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; Computational Aspects: Biomolecular NMR (GRS) June 10 - 11, 2017, USA; Association for Molecular Pathology (AMP) April 3-5, 2017, Berlin, Germany; International Conference on Biochemistry and Molecular Biology April 3-5 2017, Munich, Germany; 60th Annual Conference of the Canadian Society for Molecular Biosciences May 16-20, 2017, Ottawa, Canada; Canadian Anatomic and Molecular Pathology, February 2-4, 2017, Whistler, Canada; 2nd International Conference on Pollutant Toxic Ions and Molecules, 6 - 9 November 2017, Lisbon, Portugal; Academy of Toxicological Sciences; American Board of Toxicology; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association;

Track 4: Applied Toxicology

Applied Toxicology deals with the fundamentals in toxicology and risk assessment, including the most important databases. The topics related to Applied Toxicology are Medicinal Chemistry, Biochemistry, Environmental Chemistry, Pharmacology, Pharmacodynamics, Pharmacokinetics and Instrumental Chemistry. Toxicology is the study of the toxic substances which are poisons and their risky effects on biological systems. Drugs are medicines for diseases but can also have unsafe effects prominent to toxicity and deadly injuries

Occupational Toxicology Conferences | Toxicology Conferences | Pharmaceutical Conferences

11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; EUROTOX; Academy of Toxicological Sciences; American Board of Toxicology; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology

Track 5: Regulatory Toxicology

Regulatory Toxicology includes the gathering, handling and evaluation of epidemiological as well as experimental toxicology data to license toxicologically grounded results absorbed to the safety of health against injurious effects of biochemical materials. Furthermore, Regulatory Toxicology supports the growth of regular procedures and new challenging approaches in order to constantly progress the technical basis for decision-making developments.

Regulatory Toxicology Conferences | Toxicology Conferences | Pharmacovigilance Conference

12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Academy of Toxicological Sciences; Argentine Toxicological Association; American Board of Toxicology; EUROTOX; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Austrian Society of Toxicology; Colombia Society of Toxicology;

Track 6: Clinical Toxicology

Clinical toxicology is absorbed on the diseases related with short-term and long-term disclosure to numerous toxic substances. It typically overlaps with other disciplines such as biochemistry, pharmacology, and pathology. Persons who specify in clinical toxicology are referred to as clinical toxicologists. Their work emphases around the identification, analysis, and treatment of conditions resulting from disclosure to harmful agents. They regularly study the toxic effects of numerous drugs in the body, and are also apprehensive with the treatment and prevention of drug toxicity in the population.

Toxicology Conferences | Clinical Toxicology Conferences | Pharmacology Conferences

9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States;Academy of Toxicological Sciences; American Board of Toxicology; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology;

Track 7: Computational Toxicology

Computational toxicology is a discipline in the area of computational molecular sciences which is definitely swiftly emerging due to the overall public attention stimulated by many of us initiatives. Health care specialists beauty sector fragrance and flavour as well seeing that lawmakers and chemical substance protection regulators. It really is of particular concern in remedy discovery and progression and its own assessment is compulsory for the getting of new medicines for humans make use of it. The effect of toxicity and safety connected events in the progression of new biochemical elements is significant whether it pertains to medications or other chemical substances.

Computational Conferences | Toxicology Conferences | Computational Toxicology Conferences

3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology; EUROTOX; Academy of Toxicological Sciences; American Board of Toxicology;

Track 8: Organ Toxicity

The gathering of antimicrobial drugs and their metabolic by-products in organs can be poisonous, leading to organ injury. Toxicity is the degree to which a material can harm an organism. Toxicity can mention to the effect on an entire organism and the result on a substructure of the creature such as organ which may effect on any organ of the human being organ or tissue in the human body can be affected by antimicrobial toxicity

Organ Toxicology Conferences | Toxicity Conferences | Neurotoxicology Conferences

3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; Predicting Drug Toxicity, June 13-14, 2017, Boston, USA 5th Immunogenicity & Immunotoxicity Conference ImmunoTX Summit on February 6-7, 2017 in San Diego, CA; 2nd International Conference on Pollutant Toxic Ions and Molecules, 6 - 9 November 2017, Lisbon, Portugal; 19th International Conference on Predictive Human Toxicity, February 16 - 17, 2017, London, United Kingdom; Stem Cells in Drug Discovery & Toxicity Screening, July 10-11, 2017, Boston, USA; American Board of Toxicology; Society of Toxicology ; Society of Toxicology of Canada; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology; EUROTOX; Academy of Toxicological Sciences;

Track 9: Applied Pharmacology

Applied Pharmacology is the clinical utilizations of the medications and its use in genuine medicinal practice. Where in this it lets the doctors to extend his realities of the medication the approach it would really work in the medicinal science. It is the utilization of the medications and how the pharmacological activities or data could be connected to the therapeutics. Additionally to give clarification to various medications having associated with the pharmacological activity. It Provides elucidations about medication collaborations and to clear up the activity of different medications on the numerous organs in the body when they are sick state with symptoms disagreements

Pharmacology Conferences | Toxicology Conferences | Pharmaceutical Conferences

9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 5th International Conference on Pharmacology and Ethnopharmacology Mar 23-25, 2017 Orlando, USA; 6th Global Experts Meeting on Cardiovascular Pharmacology and Cardiac Medications April 13-14, 2017 Dubai, UAE; 7th Global Experts Meeting on Neuropharmacology July 31-Aug 02, 2017 Milan, Italy; 10th International Conference on Neuropharmacology and Neuropharmaceuticals Oct 23-24, 2017 Dubai, UAE; 7th European Congress of Pharmacology 26-30 June 2016 stanbul, Turkey; Annual International Conference on Pharmacology and Pharmaceutical Sciences (PHARMA), 26 - 27 October 2015 Bangkok, Thailand; 18th International Conference on Pharmaceutical Sciences and Pharmacology January 21-22,2016 Paris, France; 117th Annual Meeting of the American Society for Clinical Pharmacology and Therapeutics March 8 - 12, 2016 San Diego, California, USA; World congress on pharma and Advanced Clinical Research November 6-8, 2017, Singapore; American Board of Toxicology; Society of Toxicology ; Society of Toxicology of Canada; EUROTOX; Academy of Toxicological Sciences; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology

Track 10: Genetic Toxicology

Genetic toxicology is of the toxic effects of harm to deoxyribonucleic acid (DNA). Genetic info, programmed chemically in DNA, is conserved, simulated and transmitted to consecutive generations with high reliability. Damage to DNA can happen through usual biological procedure or as the result of contact of DNA, directly or indirectly, with biochemical, physical or agents. Genetic toxicology over the years has been to examine mechanisms of inheritance by providing tools to study DNA and RNA structure, DNA repair and the role of mutation at both the individual and population levels

Genetic Conferences | Medical Toxicology Conferences | Genetic Toxicology Conferences

9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Society of Toxicology; Society of Toxicology of Canada; EUROTOX; Academy of Toxicological Sciences; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology; American Board of Toxicology

Track 11: Risk assessment

Risk assessment is a methodical investigation of an assignment, job or procedure that we carry out at work for the persistence of classifying the important risks that are present. Risk assessments are very significant as they form an essential part of a virtuous occupational health and safety management strategy. They help to make consciousness of exposures and risks. Identify them who may be at risk. The identification, assessment, and valuation of the levels of risks complicated in a situation, their assessment against standards, and determination of an acceptable level of risk

Risk Assessment Conferences | Occupational Conferences | Toxicology Conferences

11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Society of Toxicology; Society of Toxicology of Canada; EUROTOX; Academy of Toxicological Sciences; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology; American Board of Toxicology

Track 12: Environmental and Occupational Toxicology

Environmental Toxicology is the investigation of effects of contaminations on the structure and capacity of biological communities. It does exclude the regular poisons, additionally the synthetic chemicals and their impact on the earth. It relies on upon the impacts of the toxicants on the organic chemistry and physiology. The principle motivation behind the natural toxicology is to recognize the mode/site of the activity of a xenobiotic. It additionally incorporate how the chemicals travel through biological systems and how they are consumed and metabolized by plants and creatures, the instruments by which they cause illness, result in inherent deformities, or toxin living beings

Environmental Toxicology Conferences | Ecologic Conferences | Occupational Conferences

12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Academy of Toxicological Sciences; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Colombia Society of Toxicology; American Board of Toxicology; Society of Toxicology; Society of Toxicology of Canada

Track 13: Experimental Toxicology

Protection of any live non-human vertebrate drifting animals of a tame species shall not be used in processes. The take care of animals used in processes, including management, shall have had suitable education and preparation. Experimental Toxicology widely covers all features of experimental and clinical studies of functional, biochemical and structural disorder. Validity announcements are also given in valuation procedures particularly if a skilled must choose which data of.

Experimental Conferences | Toxicology Conferences | Pharmaceutical Conferences

10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA;9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; American College of Medical Toxicology; Argentine Toxicological Association; American Board of Toxicology; Society of Toxicology; Society of Toxicology of Canada

Track 14: Immunotoxicology

Immunotoxicology offers a critical assessment of planned experimental animal models and methods, and discusses the influence that immunotoxicity can make to the overall valuation of chemical-induced adverse health effects on individuals and the ecosystem. Animal models of autoimmunity associated with chemical exposure, includes recommendations for the selection of sentinel species in ecotoxicology

Immunological Conferences | Immunotoxicology Conferences | Toxicity Conferences

12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; 53rd European Societies of Toxicology, September 10-13, 2017, Bratislava, Slovak; 19th International Conference on Toxicology and Applied Pharmacology, March 29 - 30, 2017 Singapore, SG; 15th International Conference on Toxicology and Clinical Pharmacology December 14-16, 2017 Dubai, UAE; 56th Annual Meeting of Society of Toxicology March 12-16, 2017 Baltimore USA; Society of Environmental Toxicology and Chemistry North America 38th Annual Meeting, November 1216, 2017, Minneapolis, Minnesota, United States; Academy of Toxicological Sciences; International Union of Toxicology; American College of Medical Toxicology; Argentine Toxicological Association; Colombia Society of Toxicology; American Board of Toxicology; Society of Toxicology

Track 15: Toxicity Testing

Toxicity is key to evaluate potential dangers to people through the intense, sub endless, and interminable presentation of creatures to pesticides. The more correct sorts of harmfulness that are resolved incorporate cancer-causing nature; developing incorporating teratogenicity in regenerative danger and neurotoxicity the degree of metabolite testing required relies on upon the level of conceivable poisonous quality and ecological steadiness of the metabolite. A toxicity test, by augmentation, is intended to create information in regards to the antagonistic impacts of a material on human or creature wellbeing, or the earth.

Toxicology Conferences | Toxicity Conferences | Pharmaceutical Conferences

9th Euro-Global Summit on Toxicology and Applied Pharmacology June 22-24, 2017 Paris, France; 11th Global Toxicology and Risk Management Meeting October 10-12, 2017 London, UK; 10th Global Summit on Toxicology and Applied Pharmacology July 20-22, 2017 Chicago, USA; 3rd Global Genomics and Toxicogenomics Meeting September 27-28, 2017 Chicago, USA; 12th International Conference on Environmental Toxicology and Ecological Risk Assessment October 19-20, 2017 Atlanta, USA; Stem Cells in Drug Discovery & Toxicity Screening, July 10-11, 2017, Boston, USA; 2nd International Conference on Pollutant Toxic Ions and Molecules, 6 - 9 November 2017, Lisbon, Portugal; Predicting Drug Toxicity, June 13-14, 2017, Boston, USA 5th Immunogenicity & Immunotoxicity Conference, one of three parallel tracks to the ImmunoTX Summit on February 6-7, 2017 in San Diego, CA; 19th International Conference on Predictive Human Toxicity, February 16 - 17, 2017, London, United Kingdom; American Board of Toxicology; Society of Toxicology; Society of Toxicology of Canada; EUROTOX; Academy of Toxicological Sciences International Union of Toxicology; Argentine Toxicological Association; Austrian Society of Toxicology; Colombia Society of Toxicology; American College of Medical Toxicology

Toxicology 2016

6th Global Summit on Toxicology and Applied Pharmacology was hosted by the Conference Series LLC in Houston, USA during October 17-19, 2016. The conference was focused on the theme "Bringing together leading researchers to share pragmatic insights" and facilitated by the Conference Series LLC. Liberal reaction and cooperation was received from the Editorial Board Members of Conference Series LLC Journals, Toxicology-2016 Organizing Committee Members, and from researchers, analysts and pioneers in Toxicology.

The conference was started by the Keynote Forum and we are chuffed to thank all our Keynote Speakers, Honorable Guests, Speakers and Conference Attendees for creating a successful meeting.

The conference has encrusted through the following sessions:

We would like to specially mention our Keynote Speakers who participated very enthusiastically and actively

The speakers gave their productive commitment as exceptionally enlightening presentations and made the meeting an extraordinary achievement.

We thank all the members who supported the conference by encouraging the healthy discussions. Conference Series LLC expresses gratitude to the Organizing Committee Members for their generous nearness, support and help towards Toxicology-2016. After the immense idealistic reaction from logical crew, prestigious identities and the Editorial Board individuals from Conference Series LLC, we are pleased to announce our forth coming conference 10th Global Summit on Toxicology and Applied Pharmacology" to be held in Chicago, USA during July 20-22, 2017.

We anticipate your precious presence at the Toxicology-2017 Conference.

Let us meet again @ Toxicology-2017

Toxicology 2015

Toxicology 2015 Past Conference Report

Conference Series LLC is the proud host of the4thGlobal Summit on Toxicologywhich took place inPhiladelphia, USAduringAugust 24-26, 2015with the theme,Exploring the Tailored Strategies and Lucid Technologies in Toxicology and Pharmacology.The Editorial Board Members of Conference Series LLC Journals and the Organizing Committee Members of the conference have extended their unsparing support and active participation towards Toxicology 2015. The participants included eminent speakers, scientists, industrialists, delegates, researchers and students who thoroughly relished the conference.

The core of the conference revolved around interactive sessions on the following scientific tracks:

This event is a collaborative effort and Conference Series LLC would like to thank the following people for making this conference a grand success:

Moderators

Keynote Speakers

We would sincerely thank the distinguished speakers who resplendently conducted workshops on Genotoxicity:

The conference marked its start by an opening ceremony which included introduction by the Honorable Guests and the Members of Keynote Forum. All the speakers have extended their contribution in the form of highly informative presentations to lead the conference to the ladder of success. Conference Series LLC extends its warm gratitude towards all the Participants, Eminent Speakers, Young Researchers, Delegates and Students.

All accepted abstracts have been indexed inConference Series LLCjournal, theJournal ofClinical Toxicologyas a special issue.

After the huge optimistic response from scientific fraternity, renowned personalities and the Editorial Board Members ofConference Series LLCfrom across the world,Conference Series LLCis pleased to announce the5thGlobal Summit on Toxicology and Applied Pharmacologyto be held duringOctober 17-19, 2016inHouston, Texas, USA.

We look forward to welcoming you to theToxicology 2016Conference and hope that the event will be both informative and enjoyable.

Toxicology-2014

Toxicology 2014 Past Conference Report

The3rdInternational Summit on Toxicology & Applied Pharmacologytook place inChicago, USAonOctober 20-22, 2014. The conference was titled: New Challenges and Innovations in Pharmacological and Toxicological Sciences and hosted by theConference Series LLC. Generous response and active participation was received from the Editorial Board Members ofConference Series LLCJournals, Toxicology-2014 Organizing Committee Members, as well as from scientists, researchers and leaders in Toxicology.

Students from various parts of the world took active participation in poster presentations. Students who presented well were awarded Best Poster Presentations for their outstanding contribution in the field of Toxicology.

The conference was carried out through various sessions and the discussions were held on the following scientific tracks:

The conference was opened by introductions from the honorable guests and members of the keynote forum. On the first day of opening the keynote speakers were,

Gerhard Eisenbrand,University of Kaiserslautern, Germany

Pavel Vodicka,Institute of Experimental Medicine, Czech Republic

Anne Marie Vinggaard,Technical University of Denmark, Denmark

Special session was conducted by Carter Cliff, Cellular Dynamics International, USA on the topic Pluripotent stem cell models-Application in toxicology and beyond, Heres-Pulido M E, Universidad Nacional Autnoma de Mxico, Mexico on the topic The Somatic Mutation and Recombination Test (SMART) in Drosophila melanogaster.

Symposium conducted by Cinzia Forni from University of Rome Tor Vergata, Italy and Hemant Misra from Prolong Pharmaceuticals, USA and the title of the Symposium is Stress response in living organisms exposed to pollutants.

All the speakers gave their fruitful contribution in the form of highly informative presentations and made the conference a great success.

All accepted abstracts have been indexed inConference Series LLCJournal of Clinical Toxicologyas a special issue.

Toxicology-2013

Toxicology 2013 Past Conference Report

The2ndInternational Summit on Toxicologytook place inLas Vegas, USAonOctober 07-09, 2013.The conference was titled: Insight into the Global Issues of Toxicology and hosted by theConference Series LLC. Generous response and active participation was received from the Editorial Board Members ofConference Series LLCJournals, Organizing Committee Members, scientists, researchers, clinical experts and leaders from the field of Toxicology.

Read more:

Toxicology Conferences 2017 | Pharmacology Conferences ...

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1 variant in the SACS gene; relevant for French Canadian descent

1 variant in the SLC12A6 gene; relevant for French Canadian descent

3 variants in the PKHD1 gene

10 variants in the HBB gene; relevant for Cypriot, Greek, Italian, Sardinian descent

1 variant in the BLM gene; relevant for Ashkenazi Jewish descent

3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent

2 variants in the PMM2 gene; relevant for Danish descent

28 variants in the CFTR gene; relevant for European, Hispanic/Latino, Ashkenazi Jewish descent

2 variants in the HSD17B4 gene

1 variant in the DLD gene; relevant for Ashkenazi Jewish descent

1 variant in the IKBKAP gene; relevant for Ashkenazi Jewish descent

3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent

1 variant in the BCS1L gene; relevant for Finnish descent

1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent

2 variants in the SLC37A4 gene

3 variants in the ALDOB gene; relevant for European descent

3 variants in the LAMB3 gene

1 variant in the LRPPRC gene; relevant for French Canadian descent

1 variant in the SGCA gene; relevant for Finnish descent

1 variant in the SGCB gene; relevant for Southern Indiana Amish descent

1 variant in the FKRP gene; relevant for European descent

3 variants in the ACADM gene; relevant for Northern European descent

2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent

1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent

1 variant in the CLN5 gene; relevant for Finnish descent

3 variants in the PPT1 gene; relevant for Finnish descent

3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent

1 variant in the NBN gene; relevant for Eastern European descent

2 variants in the GJB2 gene; relevant for Ashkenazi Jewish, European descent

6 variants in the SLC26A4 gene

23 variants in the PAH gene; relevant for Northern European descent

1 variant in the GRHPR gene; relevant for European descent

1 variant in the PEX7 gene

1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent

1 variant in the HBB gene; relevant for African descent

1 variant in the ALDH3A2 gene; relevant for Swedish descent

4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent

4 variants in the FAH gene; relevant for French Canadian, Finnish descent

1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent

1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent

1 variant in the PEX1 gene

*Our tests can be used to determine carrier status in adults from saliva collected using an FDA-cleared collection device (OrageneDX model OGD-500.001), but cannot determine if you have two copies of the genetic variant. Each test is most relevant for people of certain ethnicities. The tests are not intended to diagnose a disease, or tell you anything about your risk for developing a disease in the future. On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn child's risk of developing a particular disease later in life.

Our product is in English only, and due to the applicable regulations it is only available for customers with shipping addresses in the following countries.

If your country is not listed, visit the International site.

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23andMe - DNA Genetic Testing & Analysis

Genetic code – Wikipedia

The genetic code is the set of rules by which information encoded within genetic material (DNA or mRNA sequences) is translated into proteins by living cells. Translation is accomplished by the ribosome, which links amino acids in an order specified by mRNA, using transfer RNA (tRNA) molecules to carry amino acids and to read the mRNA three nucleotides at a time. The genetic code is highly similar among all organisms and can be expressed in a simple table with 64 entries.

The code defines how sequences of nucleotide triplets, called codons, specify which amino acid will be added next during protein synthesis. With some exceptions,[1] a three-nucleotide codon in a nucleic acid sequence specifies a single amino acid. Because the vast majority of genes are encoded with exactly the same code (see the RNA codon table), this particular code is often referred to as the canonical or standard genetic code, or simply the genetic code, though in fact some variant codes have evolved. For example, protein synthesis in human mitochondria relies on a genetic code that differs from the standard genetic code.

While the "genetic code" determines a protein's amino acid sequence, other genomic regions determine when and where these proteins are produced according to a multitude of more complex "gene regulatory codes".

Serious efforts to understand how proteins are encoded began after the structure of DNA was discovered in 1953. George Gamow postulated that sets of three bases must be employed to encode the 20 standard amino acids used by living cells to build proteins. With four different nucleotides, a code of 2 nucleotides would allow for only a maximum of 42 = 16 amino acids. A code of 3 nucleotides could code for a maximum of 43 = 64 amino acids.[2]

The Crick, Brenner et al. experiment first demonstrated that codons consist of three DNA bases; Marshall Nirenberg and Heinrich J. Matthaei were the first to elucidate the nature of a codon in 1961 at the National Institutes of Health. They used a cell-free system to translate a poly-uracil RNA sequence (i.e., UUUUU...) and discovered that the polypeptide that they had synthesized consisted of only the amino acid phenylalanine.[3] They thereby deduced that the codon UUU specified the amino acid phenylalanine. This was followed by experiments in Severo Ochoa's laboratory that demonstrated that the poly-adenine RNA sequence (AAAAA...) coded for the polypeptide poly-lysine[4] and that the poly-cytosine RNA sequence (CCCCC...) coded for the polypeptide poly-proline.[5] Therefore, the codon AAA specified the amino acid lysine, and the codon CCC specified the amino acid proline. Using different copolymers most of the remaining codons were then determined. Subsequent work by Har Gobind Khorana identified the rest of the genetic code. Shortly thereafter, Robert W. Holley determined the structure of transfer RNA (tRNA), the adapter molecule that facilitates the process of translating RNA into protein. This work was based upon earlier studies by Severo Ochoa, who received the Nobel Prize in Physiology or Medicine in 1959 for his work on the enzymology of RNA synthesis.[6]

Extending this work, Nirenberg and Philip Leder revealed the triplet nature of the genetic code and deciphered the codons of the standard genetic code. In these experiments, various combinations of mRNA were passed through a filter that contained ribosomes, the components of cells that translate RNA into protein. Unique triplets promoted the binding of specific tRNAs to the ribosome. Leder and Nirenberg were able to determine the sequences of 54 out of 64 codons in their experiments.[7] In 1968, Khorana, Holley and Nirenberg received the Nobel Prize in Physiology or Medicine for their work.[8]

A codon is defined by the initial nucleotide from which translation starts and sets the frame for a run of uninterrupted triplets, which is known as an "open reading frame" (ORF). For example, the string GGGAAACCC, if read from the first position, contains the codons GGG, AAA, and CCC; and, if read from the second position, it contains the codons GGA and AAC; if read starting from the third position, GAA and ACC. Every sequence can, thus, be read in its 5' 3' direction in three reading frames, each of which will produce a different amino acid sequence (in the given example, Gly-Lys-Pro, Gly-Asn, or Glu-Thr, respectively). With double-stranded DNA, there are six possible reading frames, three in the forward orientation on one strand and three reverse on the opposite strand.[9]:330 The actual frame from which a protein sequence is translated is defined by a start codon, usually the first AUG codon in the mRNA sequence.

In eukaryotes, ORFs in exons are often interrupted by introns.

Translation starts with a chain initiation codon or start codon. Unlike stop codons, the codon alone is not sufficient to begin the process. Nearby sequences such as the Shine-Dalgarno sequence in E. coli and initiation factors are also required to start translation. The most common start codon is AUG, which is read as methionine or, in bacteria, as formylmethionine. Alternative start codons depending on the organism include "GUG" or "UUG"; these codons normally represent valine and leucine, respectively, but as start codons they are translated as methionine or formylmethionine.[10]

The three stop codons have been given names: UAG is amber, UGA is opal (sometimes also called umber), and UAA is ochre. "Amber" was named by discoverers Richard Epstein and Charles Steinberg after their friend Harris Bernstein, whose last name means "amber" in German.[11] The other two stop codons were named "ochre" and "opal" in order to keep the "color names" theme. Stop codons are also called "termination" or "nonsense" codons. They signal release of the nascent polypeptide from the ribosome because there is no cognate tRNA that has anticodons complementary to these stop signals, and so a release factor binds to the ribosome instead.[12]

During the process of DNA replication, errors occasionally occur in the polymerization of the second strand. These errors, called mutations, can affect the phenotype of an organism, especially if they occur within the protein coding sequence of a gene. Error rates are usually very low1 error in every 10100million basesdue to the "proofreading" ability of DNA polymerases.[14][15]

Missense mutations and nonsense mutations are examples of point mutations, which can cause genetic diseases such as sickle-cell disease and thalassemia respectively.[16][17][18] Clinically important missense mutations generally change the properties of the coded amino acid residue between being basic, acidic, polar or non-polar, whereas nonsense mutations result in a stop codon.[9]:266

Mutations that disrupt the reading frame sequence by indels (insertions or deletions) of a non-multiple of 3 nucleotide bases are known as frameshift mutations. These mutations usually result in a completely different translation from the original, and are also very likely to cause a stop codon to be read, which truncates the creation of the protein.[19] These mutations may impair the function of the resulting protein, and are thus rare in in vivo protein-coding sequences. One reason inheritance of frameshift mutations is rare is that, if the protein being translated is essential for growth under the selective pressures the organism faces, absence of a functional protein may cause death before the organism is viable.[20] Frameshift mutations may result in severe genetic diseases such as Tay-Sachs disease.[21]

Although most mutations that change protein sequences are harmful or neutral, some mutations have a beneficial effect on an organism.[22] These mutations may enable the mutant organism to withstand particular environmental stresses better than wild type organisms, or reproduce more quickly. In these cases a mutation will tend to become more common in a population through natural selection.[23]Viruses that use RNA as their genetic material have rapid mutation rates,[24] which can be an advantage, since these viruses will evolve constantly and rapidly, and thus evade the defensive responses of e.g. the human immune system.[25] In large populations of asexually reproducing organisms, for example, E. coli, multiple beneficial mutations may co-occur. This phenomenon is called clonal interference and causes competition among the mutations.[26]

Degeneracy is the redundancy of the genetic code. This term was given by Bernfield and Nirenberg. The genetic code has redundancy but no ambiguity (see the codon tables below for the full correlation). For example, although codons GAA and GAG both specify glutamic acid (redundancy), neither of them specifies any other amino acid (no ambiguity). The codons encoding one amino acid may differ in any of their three positions. For example, the amino acid leucine is specified by YUR or CUN (UUA, UUG, CUU, CUC, CUA, or CUG) codons (difference in the first or third position indicated using IUPAC notation), while the amino acid serine is specified by UCN or AGY (UCA, UCG, UCC, UCU, AGU, or AGC) codons (difference in the first, second, or third position).[27]:102117:521522 A practical consequence of redundancy is that errors in the third position of the triplet codon cause only a silent mutation or an error that would not affect the protein because the hydrophilicity or hydrophobicity is maintained by equivalent substitution of amino acids; for example, a codon of NUN (where N = any nucleotide) tends to code for hydrophobic amino acids. NCN yields amino acid residues that are small in size and moderate in hydropathy; NAN encodes average size hydrophilic residues. The genetic code is so well-structured for hydropathy that a mathematical analysis (Singular Value Decomposition) of 12 variables (4 nucleotides x 3 positions) yields a remarkable correlation (C = 0.95) for predicting the hydropathy of the encoded amino acid directly from the triplet nucleotide sequence, without translation.[28][29] Note in the table, below, eight amino acids are not affected at all by mutations at the third position of the codon, whereas in the figure above, a mutation at the second position is likely to cause a radical change in the physicochemical properties of the encoded amino acid.

The frequency of codons, also known as codon usage bias, can vary from species to species with functional implications for the control of translation. The following codon usage table is for the human genome.[30]

While slight variations on the standard code had been predicted earlier,[31] none were discovered until 1979, when researchers studying human mitochondrial genes discovered they used an alternative code.[32] Many slight variants have been discovered since then,[33] including various alternative mitochondrial codes,[34] and small variants such as translation of the codon UGA as tryptophan in Mycoplasma species, and translation of CUG as a serine rather than a leucine in yeasts of the "CTG clade" (Candida albicans is member of this group).[35][36][37] Because viruses must use the same genetic code as their hosts, modifications to the standard genetic code could interfere with the synthesis or functioning of viral proteins.[38] However, some viruses (such as totiviruses) have adapted to the genetic code modification of the host.[39] In bacteria and archaea, GUG and UUG are common start codons, but in rare cases, certain proteins may use alternative start codons not normally used by that species.[33]

In certain proteins, non-standard amino acids are substituted for standard stop codons, depending on associated signal sequences in the messenger RNA. For example, UGA can code for selenocysteine and UAG can code for pyrrolysine. Selenocysteine is now viewed as the 21st amino acid, and pyrrolysine is viewed as the 22nd.[33] Unlike selenocysteine, pyrrolysine encoded UAG is translated with the participation of a dedicated aminoacyl-tRNA synthetase.[40] Both selenocysteine and pyrrolysine may be present in the same organism.[41] Although the genetic code is normally fixed in an organism, the achaeal prokaryote Acetohalobium arabaticum can expand its genetic code from 20 to 21 amino acids (by including pyrrolysine) under different conditions of growth.[42]

Despite these differences, all known naturally occurring codes are very similar to each other, and the coding mechanism is the same for all organisms: three-base codons, tRNA, ribosomes, reading the code in the same direction and translating the code three letters at a time into sequences of amino acids.

Variant genetic codes used by an organism can be inferred by identifying highly conserved genes encoded in that genome, and comparing its codon usage to the amino acids in homologous proteins of other organisms. For example, the program FACIL[43] infers a genetic code by searching which amino acids in homologous protein domains are most often aligned to every codon. The resulting amino acid probabilities for each codon are displayed in a genetic code logo, that also shows the support for a stop codon.

The DNA codon table is essentially identical to that for RNA, but with U replaced by T.

The origin of the genetic code is a part of the question of the origin of life. Under the main hypothesis for the origin of life, the RNA world hypothesis, any model for the emergence of genetic code is intimately related to a model of the transfer from ribozymes (RNA enzymes) to proteins as the principal enzymes in cells. In line with the RNA world hypothesis, transfer RNA molecules appear to have evolved before modern aminoacyl-tRNA synthetases, so the latter cannot be part of the explanation of its patterns.[45]

A consideration of a hypothetical random genetic code further motivates a biochemical or evolutionary model for the origin of the genetic code. If amino acids were randomly assigned to triplet codons, there would be 1.51084 possible genetic codes to choose from.[46]:163 This number is found by calculating how many ways there are to place 21 items (20 amino acids plus one stop) in 64 bins, wherein each item is used at least once. [2] In fact, the distribution of codon assignments in the genetic code is nonrandom.[47] In particular, the genetic code clusters certain amino acid assignments. For example, amino acids that share the same biosynthetic pathway tend to have the same first base in their codons. This could be an evolutionary relic of early simpler genetic code with fewer amino acids, that later diverged to code for a larger set of amino acids.[48] It could also reflect steric and chemical properties that had another effect on the codon during its evolution. Amino acids with similar physical properties also tend to have similar codons,[49][50] reducing the problems caused by point mutations and mistranslations.[47]

Given the non-random genetic triplet coding scheme, it has been suggested that a tenable hypothesis for the origin of genetic code should address multiple aspects of the codon table such as absence of codons for D-amino acids, secondary codon patterns for some amino acids, confinement of synonymous positions to third position, a limited set of only 20 amino acids instead of a number closer to 64, and the relation of stop codon patterns to amino acid coding patterns.[51]

There are three main ideas for the origin of the genetic code, and many models belong to either one of them or to a combination thereof:[52]

Hypotheses for the origin of the genetic code have addressed a variety of scenarios:[56]

Since 2001, 40 non-natural amino acids have been added into protein by creating a unique codon (recoding) and a corresponding transfer-RNA:aminoacyl tRNA-synthetase pair to encode it with diverse physicochemical and biological properties in order to be used as a tool to exploring protein structure and function or to create novel or enhanced proteins.[71][72]

H. Murakami and M. Sisido have extended some codons to have four and five bases. Steven A. Benner constructed a functional 65th (in vivo) codon.[73]

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Genetic code - Wikipedia

Genetics & Medicine – Site Guide – NCBI – ncbi.nlm.nih.gov

Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

A registry and results database of publicly- and privately-supported clinical studies of human participants conducted around the world.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

A compilation of data from the NIAID Influenza Genome Sequencing Project and GenBank. It provides tools for flu sequence analysis, annotation and submission to GenBank. This resource also has links to other flu sequence resources, and publications and general information about flu viruses.

A portal to information about medical genetics. MedGen includes term lists from multiple sources and organizes them into concept groupings and hierarchies. Links are also provided to information related to those concepts in the NIH Genetic Testing Registry (GTR), ClinVar,Gene, OMIM, PubMed, and other sources.

A project involving the collection and analysis of bacterial pathogen genomic sequences originating from food, environmental and patient isolates. Currently, an automated pipeline clusters and identifies sequences supplied primarily by public health laboratories to assist in the investigation of foodborne disease outbreaks and discover potential sources of food contamination.

A database of human genes and genetic disorders. NCBI maintains current content and continues to support its searching and integration with other NCBI databases. However, OMIM now has a new home at omim.org, and users are directed to this site for full record displays.

A database of citations and abstracts for biomedical literature from MEDLINE and additional life science journals. Links are provided when full text versions of the articles are available via PubMed Central (described below) or other websites.

A digital archive of full-text biomedical and life sciences journal literature, including clinical medicine and public health.

A collection of clinical effectiveness reviews and other resources to help consumers and clinicians use and understand clinical research results. These are drawn from the NCBI Bookshelf and PubMed, including published systematic reviews from organizations such as the Agency for Health Care Research and Quality, The Cochrane Collaboration, and others (see complete listing). Links to full text articles are provided when available.

A collection of resources specifically designed to support the research of retroviruses, including a genotyping tool that uses the BLAST algorithm to identify the genotype of a query sequence; an alignment tool for global alignment of multiple sequences; an HIV-1 automatic sequence annotation tool; and annotated maps of numerous retroviruses viewable in GenBank, FASTA, and graphic formats, with links to associated sequence records.

A summary of data for the SARS coronavirus (CoV), including links to the most recent sequence data and publications, links to other SARS related resources, and a pre-computed alignment of genome sequences from various isolates.

An extension of the Influenza Virus Resource to other organisms, providing an interface to download sequence sets of selected viruses, analysis tools, including virus-specific BLAST pages, and genome annotation pipelines.

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Genetics & Medicine - Site Guide - NCBI - ncbi.nlm.nih.gov

Department of Genetic Medicine – Weill Cornell Medical College

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine. The field of genetic therapies comprises gene and stem cell therapies and our laboratory has extensive expertise in both areas. Our group was the first to use a recombinant virus as a vehicle for in vivo gene therapy and we have carried out human trials of gene therapy for cystic fibrosis, cardiac ischemia, cancer and central nervous system disorders. Among the current projects are gene transfer strategies for cancer, inherited CNS disorders, 1-antitrypsin deficiency, anti-bioterrorism applications and development of vaccines. We also operate the clinical vector production laboratory of the Belfer Gene Therapy Core Facility, which has produced adenovirus and adeno-associated virus vectors that have been used in numerous human studies. Current projects in the field of stem cell therapy include characterization of the roles of cancer stem cells in lung cancer and the role of airway epithelium stem cells in chronic obstructive pulmonary disease.

Personalized medicine is the use of information and data from an individual's genotype, or level of gene expression to stratify complex diseases, select a medication or dose of a medication, provide a therapy, or initiate a preventative measure that is specifically suited to that patient. In addition to genetic information, other factors, including imaging, laboratory, and clinical information about the disease process or the patient are integrated into the process of developing personalized medicine. Our group utilizes microarray technologies for genome-wide characterization of gene expression, single nucleotide polymorphism and copy number variation profiles on clinical samples as the basis for projects aimed at indentifying candidate genes associated with complex disease such as chronic obstructive pulmonary disease.

The overall research program of the group includes close collaborations with other laboratories at Weill Cornell and elsewhere, including Malcolm Moore's group at Memorial Sloan Kettering Cancer Center for stem cell projects. Of particular note are our collaborations on personalized medicine projects with colleagues at Weill Cornell Medical College-Qatar and Hamad Medical Corporation in Doha, Qatar and collaborations on Bioinformatics and Biostatistical Genetics with several laboratories at Cornell-Ithaca, including Andy Clark and Jason Mezey.

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Department of Genetic Medicine - Weill Cornell Medical College

Worlds Leading Genomics Conference | Global Meetings …

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Biomarkerscan be trademark organic properties or particles that can be distinguished and measured in parts of the body such as the blood or tissue.Biomarkerscan be particular cells, atoms, or qualities, quality items, chemicals, orhormones.Atomicmarkeris a section of DNA that is connected with a specific area inside of thegenome. Atomic markers are utilized as a part of sub-atomic science andbiotechnologyto distinguish a specific grouping of DNA in a pool of obscure DNA.

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Clinical Genomicsis the utilization of genome sequencing to educate understanding analysis and care.Genome sequencingis relied upon to have the most effect in: portraying and diagnosinghereditary infection; stratifying patients for fittingmalignancytreatment; and giving data around an individual'simaginable reactionto treatment to lessen antagonistic medication responses.

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Track 7:Micro RNA

MicroRNAscomprise a novel class of small, non-coding endogenous RNAs that regulategene expressionby directing their targetmRNAsfor degradation or translational repression. miRNAs represent smallRNA moleculesencoded in thegenomesofplantsand animals. These highly conserved 22 nucleotides longRNA sequencesregulate the expression of genes by binding to the 3'-untranslated regions (3'-UTR) of specific mRNAs. A growing body of evidence shows that mRNAs are one of the key players in cell differentiation and growth, mobility andapoptosis.

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Canadian Association of Genetic Counsellors, Canada.European Cytogeneticists Association, Europe.Human Genome Organisation, South Korea.Biochemistry Moroccan Society and Molecular Biology, Africa,Federation of African societies of Biochemistry & Molecular Biology, Kenya.South African Stem Cell Transplantation Society, South Africa.National Society of Genetic Counselors, Chicago.Canadian College of Medical Geneticists, Canada.German Society of Human Genetics, Germany.

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mRNAis a subtype of RNA. AmRNAatom conveys a segment of the DNA code to different parts of the cell for preparing.mRNAis made amid interpretation. Amid the translation handle, a solitary strand ofDNAis decoded by RNA polymerase, and mRNA is incorporated. Physically, mRNA is a strand of nucleotides known asribonucleiccorrosive, and is single-stranded.

RelatedConferences:

7th International Conference onPlantGenomics,Bangkok, Thailand,July 03-05, 2017; 15th EuroBiotechnologyCongress,Valencia, Spain,June 05-07, 2017; International Conference onIntegrative Medicine& Nutrition,Dubai, UAE,May11-13, 2017; 14th Asia-PacificBiotechCongress, April 10-12, 2017; Beijing, China,15thBiotechnologyCongress,Baltimore, USA,June 22-23, 2017. 29thFungal Genetics conferenceMarch 14-19, 2017 Pacific Grove, CA.

Related Societies:

Swiss Society of Medical Genetics, Switzerland.Human Variome Project, Australia.American College of Medical Genetics and Genomics, USA.International Federation of Human Genetics Societies, South Africa.Human Genetics Society of Australasia, Australia.Belgian Society for Human Genetics, Belgian.Asia Pacific Society of Human Genetics, Asia.

Track9:BioinformaticsinGenomics

Bioinformaticsis the exploration of gathering and breaking down complex organic information, for example,hereditary codes. Sub-atomic solution requires the joining and examination of genomic, sub-atomic, cell, and additionallyclinical informationand it in this way offers a momentous arrangement of difficulties to bioinformatics.

RelatedConferences:

5th International Conference and Exhibition onCell and Gene Therapy,Madrid, Spain, Mar 2-3, 2017;International Conference onCell Signalling andCancer Therapy,Paris, France,Aug 20-22, 2017; 7th Annual Conference onStem Celland Regenerative Medicine,Paris, France,Aug 04-05, 2016;3rd International Conference & Exhibition onTissue Preservationand Bio banking,Baltimore, USA,June 29-30, 2017.Internation Plant and Animal Conference XXVJanuary 14-18, 2017 San Diego, CA, USA.

Related Societies:

International Federation of Human Genetics Societies, South Africa.Europe. Human Genome Organisation, South Korea.National Society of Genetic Counselors, Chicago.Canadian College of Medical Geneticists, Canada.International Federation of Human Genetics Societies, South Africa.Human Genetics Society of Australasia, Australia.German Society of Human Genetics, Germany.

Track 10:Comparative Genomics

SimilarGenomicsandgenomicmedicinenewfieldofnaturalexaminationinwhichthegenomegroupins of variousspecies- human, mouse and a wide assortment of different life forms from yeast to chimpanzees-are looked at. The assessment of likenesses and contrasts betweengenomesof various life forms; can uncover contrasts in the middle of people and species and also transformative connections.

RelatedConferences:

6th International Conference onTissue Engineering &Regenerative Medicine,Baltimore, USA,Aug 20-22, 2017; 8th World Congress and Expo onCell &Stem Cell Research,Orlando, USA,March 20-22, 2017; 15thWorld Congress onBiotechnologyand Biotech Industries Meet,Rome, Italy,March 20-21, 2017; 2nd International Conference onGenetic Counselling andGenomic Medicine,Beijing, China, July 10-12, 2017; International Conference onClinical andMolecular Genetics,Las Vegas, USA,April 24-26, 2017.Plant Genomics and Gene Editing CongressConference Asia April 10-11, 2017 Hong Kong.

Related Societies:

Canadian Association of Genetic Counsellors, Canada.European Cytogeneticists Association, Europe.Human Genome Organisation, South Korea.Biochemistry Moroccan Society and Molecular Biology, Africa,Federation of African societies of Biochemistry & Molecular Biology, Kenya.South African Stem Cell Transplantation Society, South Africa.National Society of Genetic Counselors, Chicago.Canadian College of Medical Geneticists, Canada.German Society of Human Genetics, Germany.

Track 11:Plant Genomics

Late mechanical headways have generously extended our capacity to dissect and comprehendplantgenomesand to diminish the crevice existing in the middle of genotype and phenotype. The quick advancing field of genomics permits researchers to dissect a huge number of qualities in parallel, to comprehend the hereditary building design ofplant genomesfurthermore to separate the qualities in charge oftransformations.

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2nd International Conference onMolecular Biology, London, UK,June 22-24, 2017;3rd WorldBioSummit & Expo, Abu Dhabi, UAE,June 19-21, 2017;5th International Conference onIntegrativeBiology, London, UK,June 19-21, 2017;2nd World Congress on HumanGenetics, Chicago, USA,July 24-26, 2017;9th International Conference onGenomicsand Pharmacogenomics, London,UK,June 15-16, 2017. 28thAnnual Lorne Genomics Conference2017 February 12-14, 2017 Mantra Lorne, Victoria, Australia.

Related Societies:

Swiss Society of Medical Genetics, Switzerland.Human Variome Project, Australia.American College of Medical Genetics and Genomics, USA.International Federation of Human Genetics Societies, South Africa.Human Genetics Society of Australasia, Australia.Belgian Society for Human Genetics, Belgian.Asia Pacific Society of Human Genetics, Asia.

Track 12:Personal Genomics

Individualgenomicsis the branch of genomics worried with thesequencingand examination of the genome of a person. Thegenotypingstage utilizes diverse strategies, includingsingle-nucleotide polymorphism(SNP) examination chips or incomplete or fullgenome sequencing.

RelatedConferences:

7th International Conference onPlantGenomics,Bangkok, Thailand,July 03-05, 2017; 15th EuroBiotechnologyCongress,Valencia, Spain,June 05-07, 2017; International Conference onIntegrative Medicine& Nutrition,Dubai, UAE,May11-13, 2017; 14th Asia-PacificBiotechCongress, April 10-12, 2017; Beijing, China,15thBiotechnologyCongress,Baltimore, USA,June 22-23, 2017. 29thFungal Genetics conferenceMarch 14-19, 2017 Pacific Grove, CA.

Related Societies:

International Federation of Human Genetics Societies, South Africa.Europe. Human Genome Organisation, South Korea.National Society of Genetic Counselors, Chicago.Canadian College of Medical Geneticists, Canada.International Federation of Human Genetics Societies, South Africa.Human Genetics Society of Australasia, Australia.German Society of Human Genetics, Germany.

Track 13:Microbial Genomics

MicrobialGenomicsappliesrecombinantDNA,DNAsequencingroutines,andbioinformaticsto succession, gather, and dissect the capacity and structure of genomes in organisms. Amid the previous 10 years, genomics-based methodologies have profoundly affected the field ofmicrobiologyand our comprehension of microbial species. In view of their bigger genome sizes,genome sequencingendeavors on growths and unicellular eukaryotes were slower to begin than ventures concentrated on prokaryotes.

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5th International Conference and Exhibition onCell and Gene Therapy,Madrid, Spain, Mar 2-3, 2017;International Conference onCell Signalling andCancer Therapy,Paris, France,Aug 20-22, 2017; 7th Annual Conference onStem Celland Regenerative Medicine,Paris, France,Aug 04-05, 2016;3rd International Conference & Exhibition onTissue Preservationand Bio banking,Baltimore, USA,June 29-30, 2017.Internation Plant and Animal Conference XXVJanuary 14-18, 2017 San Diego, CA, USA.

Related Societies:

Canadian Association of Genetic Counsellors, Canada.European Cytogeneticists Association, Europe.Human Genome Organisation, South Korea.Biochemistry Moroccan Society and Molecular Biology, Africa,Federation of African societies of Biochemistry & Molecular Biology, Kenya.South African Stem Cell Transplantation Society, South Africa.National Society of Genetic Counselors, Chicago.Canadian College of Medical Geneticists, Canada.German Society of Human Genetics, Germany.

Track 14:Future trends in Genomics

Genomics researchholds the way to meeting a considerable lot of the difficulties of the coming years. Right now, the greatest test is in information investigation. We can produce a lot of information modestly, yet that overpowers our ability to comprehend it. The significant test of theGenomeResearch is we have to imbuegenomic datainto restorative practice, which is truly hard.

RelatedConferences:

6th International Conference onTissue Engineering &Regenerative Medicine,Baltimore, USA,Aug 20-22, 2017; 8th World Congress and Expo onCell &Stem Cell Research,Orlando, USA,March 20-22, 2017; 15thWorld Congress onBiotechnologyand Biotech Industries Meet,Rome, Italy,March 20-21, 2017; 2nd International Conference onGenetic Counselling andGenomic Medicine,Beijing, China, July 10-12, 2017; International Conference onClinical andMolecular Genetics,Las Vegas, USA,April 24-26, 2017.Internation Plant and Animal Conference XXVJanuary 14-18, 2017 San Diego, CA, USA.Plant Genomics and Gene Editing CongressConference Asia April 10-11, 2017 Hong Kong.

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Worlds Leading Genomics Conference | Global Meetings ...

Genetic Medicine | Angies List

If a patient has a genetic disorder, or suspects one, a doctor in this field is often good to see. Genetics is extremely complex and it is important that patients with these disorders get the most skilled care.

For example, a neurologist often treats those with epilepsy, as it is largely a neurological disorder. But this disorder also often runs in families, making it also hereditary in nature. A genetic specialist and a neurologist can work together to ensure the best and most comprehensive care for the patient.

Another example is a BRCA gene mutation. A genetic counselor and a molecular genetics specialist will work to determine whether the patient actually does have this gene. Once they've determined the patient is positive for this gene mutation, she will need to consult with other specialists, such as an OB/GYN, to determine whether surgery or other treatment options will lower her risk of breast, ovarian or other cancers associated with this gene. So, in this case, the genetic specialist initiates the patient's care and then refers her to the appropriate specialists, depending on the results of the testing.

A genetic specialist may also be necessary for patients with an undiagnosed illness. If the patient has been through testing with different specialists and still does not have a diagnosis, a genetic doctor may come in and help the other specialists determine whether the patient has a genetic disease or some type of genetic abnormality that could help the doctors give the patient the right diagnosis.

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Genetic Medicine | Angies List

USC Institute for Genetic Medicine

USC Institute for Genetic Medicine

The USC Institute for Genetic Medicine (IGM) is a place where researchers work closely together in a shared space to approach problems of the highest impact to human health. The IGM houses the offices and laboratories of a group of leading faculty members from the University of Southern California (USC). IGM scientists, engineers and clinicians take a multidisciplinary approach using molecular, genetic, omics, and computational technologies in human and genetic models.

The IGM is administered as a department reporting to the Dean of the Keck School of Medicine of USC. It is part of the USC Health Sciences Campus, located on the east side of Los Angeles.

The IGM comprises 21 faculty members. The department is an important research training ground for USC, and typically supports about 50 trainees at any one time. Including scientific and administrative staff, the total number of people working within the IGM hovers around 110 individuals.

IGM research is funded by federal, state, and industry-sponsored grants, as well as gifts from donors and benefactors. The major sponsor is the National Institutes of Health (NIH). The Center for Applied Molecular Medicine (CAMM) within the IGM holds a Physical Sciences in Oncology Center (PS-OC) grant from the NIHs National Cancer Institute.

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USC Institute for Genetic Medicine

Department of Genetic Medicine (Research) | Medicine …

Practice Info

The Department of Genetic Medicine at Weill Cornell Medicine is a highly specialized form of personalized medicine that involves the introduction of genetic material into a patients cells to fight or prevent disease. This experimental approach requires the use of information and data from an individual's genotype or specific DNA signature, to challenge a disease, select a medication or its dosage, provide a specific therapy, or initiate preventative measures specifically suited to the patient. While this technology is still in its infancy, gene therapy has been used with some success and offers the promise of regenerative cures.

As none of New York's premier healthcare networks, Weill Cornell Medicine's genetic research program includes close collaborations with fellow laboratories such as Memorial Sloan Kettering Cancer Center for stem cell projects, Weill Cornell Medical College in Qatar and Hamad Medical Corporation in Doha, Qatar and Bioinformatics and Biostatistical Genetics at Cornell-Ithaca.

Department of Genetic Medicine Services

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine, and we arestudying gene therapy for a number of diseases, such as combined immuno-deficiencies, hemophilia, Parkinson's, cancer and even HIV using a number of different approaches.

Patients interested in gene therapy are invited to participate in our full range of services, including:

-diagnostic testing

-imaging

-laboratory analysis

-clinical informatics

-managed therapies

In addition, we offer genetic testing to provide options for individuals and families seeking per-emptive strategies for addressing the uncertainties surrounding inherited diseases.The Department of Genetic Medicine at Weill Cornell is a pioneer in the advancement of genetics for patients and their families. These are the strengths we draw upon as we collaborate with our integrated network of partners, including the #1 hospital in New York, New York Presbyterian, to make breakthroughs a reality for our patients.

For more information or to schedule an appointment, call us toll-free at 1-855-WCM-WCMU.

More here:

Department of Genetic Medicine (Research) | Medicine ...

Genomic Medicine – Genome.gov

Genomic Medicine

NHGRI defines genomic medicine as "an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use." Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

The nation's investment in the Human Genome Project (HGP) was grounded in the expectation that knowledge generated as a result of that extraordinary research effort would be used to advance our understanding of biology and disease and to improve health. In the years since the HGP's completion there has been much excitement about the potential for so-called 'personalized medicine' to reach the clinic. More recently, a report from the National Academy of Sciences [dels.nas.edu] has called for the adoption of 'precision medicine,' where genomics, epigenomics, environmental exposure, and other data would be used to more accurately guide individual diagnosis [nimh.nih.gov]. Genomic medicine, as defined above, can be considered a subset of precision medicine.

The translation of new discoveries to use in patient care takes many years. Based on discoveries over the past five to ten years, genomic medicine is beginning to fuel new approaches in certain medical specialties. Oncology, in particular, is at the leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies.

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It has often been estimated that it takes, on average, 17 years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRI Genomic Medicine Working Group (GMWG) has been gathering expert stakeholders in a series of Genomic Medicine meetings to discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical specialty, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to the National Advisory Council on Human Genome Research (NACHGR) and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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For more examples of genomic medicine advances, please see Notable Accomplishments in Genomic Medicine

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At NHGRI, the Division of Genomic Medicine administers research programs with a clinical focus. A number of research programs currently underway are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an individual's clinical care:

Within NHGRI's Division of Policy, Communications, and Education, the Policy and Program Analysis Branch (PPAB), and the Genomic Healthcare Branch (GHB) are both involved in helping pave the way for the widespread adoption of genomic medicine.

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Last Updated: March 31, 2015

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Genomic Medicine - Genome.gov

preimplantation genetic diagnosis – Penn Medicine

All Clinical Services

Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). Preimplantation genetic diagnosis screens embryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus.

For couples undergoing IVF, preimplantation genetic diagnosis may be recommended when:

Thousands of clinical preimplantation genetic diagnosis cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies.

Preimplantation genetic diagnosis can be used to determine if embryos produced through in vitro fertilization carry a gene mutation associated with a specific genetic disorder, such as cystic fibrosis or muscular dystrophy.

The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the genetic disorder can be selected for transfer to the uterus, therefore greatly reducing the risk that a couple will pass a genetic disorder onto their child.

Couples who are at high risk of having a child with a severe genetic disorder may choose preimplantation genetic diagnosis for many reasons, including:

Preimplantation genetic diagnosis is also offered to couples when one partner has a chromosomal abnormality, such as an unbalanced translocation or anerplocity. If the abnormality is present in the embryo, the condition could ultimately prevent embryo implantation, lead to pregnancy loss, or result in the birth of a child with congenital malformations (physical problems) or mental retardation.

The benefit of preimplantation genetic diagnosis is that the diagnosis can be made before the embryos are transferred to the uterus and a pregnancy is established. Embryos unaffected by the chromosomal abnormality can be selected for transfer to the uterus, therefore greatly reducing the risk that the pregnancy will be adversely affected by the chromosomal abnormality.

Couples who are at high risk of having a child with a chromosomal disorder may choose preimplantation genetic diagnosis for many reasons, including:

Genetic counseling is an important step to determine if preimplantation genetic diagnosis is an appropriate option for a patient. Penn Fertility Care providers work closely with the genetic counselors in Penns Division of Reproductive Genetics. For couples undergoing IVF who are concerned that their child may inherit a genetic disorder or chromosomal abnormality, genetic counselors are available to discuss options and can advise patients on how raising a handicapped child may affect a family.

Learn more about Genetic Counseling services at Penn

Preimplantation genetic diagnosis is available for couples undergoing IVF. The steps of the IVF process include:

Embryo biopsy may be performed after 3 days of culture in the laboratory. The embryos are typically 8-cell embryos on Day-3 and the process involves the removal of one to two cells.

After the biopsy and following receipt of the results from the genetic/chromosomal testing, embryo(s) of the best quality that are not affected by the genetic disorder or chromosomal abnormality) are selected for transfer to the uterus. For day 3 embryo biopsies, the embryo is usually transferred "fresh" following two additional days of culture in the laboratory (Day-5 embryo transfer).

In some cases, the biopsy will be done on either Day-5 or -6 (trophectoderm biopsy). At this stage, the embryo consists of many cells and is called a blastocyst. Cells are removed from the outer layer of cells called the trophectoderm.

Following the biopsy of a good quality blastocyst, the blastocyst is then frozen. When the patient receives the results from the genetic testing, the non-affected or chromosomally normal blastocyst(s) are thawed and transferred in a subsequent frozen embryo cycle.

Embryos are analyzed by one of the techniques described below:

Polymerase Chain Reaction (PCR) is performed on the biopsied cell(s) to determine the presence of a single gene. This is done when a couple has a significantly increased risk of conceiving a child with a severe genetic disorder. When PCR is to be performed, the cell(s) obtained at biopsy is loaded into a tiny tube of medium and sent to for analysis. The specific area of DNA of interest is amplified by making thousands of copies of the DNA through repeated cycles of DNA strand separation and replication. The sample can be analyzed for the presence of a specific sequence of DNA or gene and also for linkage markers near the gene. The biopsied cell(s) are destroyed during this process. Therefore, they cannot be used for another purpose or returned to the embryo.

The genetic material (DNA) within the biopsied cell(s) is amplified using a technique called the polymerase chain reaction (PCR). This amplification produces enough DNA to use a second technique, known as array comparative genomic hybridization (aCGH). Array CGH assesses the amount of DNA derived from each chromosome, revealing whether or not there are both a normal amount and correct number of chromosomes. The biopsied cell(s) are destroyed during this process. Therefore, they cannot be used for another purpose or returned to the embryo. aCGH can be used to screen for numeric abnormalities in all chromosomes and/or known rearrangements of chromosomes (translocations). Array CGH does not detect all types of chromosome aberrations or genetic mutations and cannot distinguish between no translocation present and balanced translocation present.

The results of preimplantation genetic diagnosis are reported to the couple no later than the morning of their scheduled day for embryo transfer. Typically this is five days after oocyte retrieval and in vitro fertilization are performed. Of the embryo(s) that are not affected by the genetic disorder or chromosomal abnormality, the best quality embryo(s) are selected for transfer to the uterus. If additional unaffected and good-quality embryos are available, they may be cryopreserved for a future embryo transfer.

No, preimplantation genetic diagnosis does not replace prenatal testing, such as chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis provides diagnostic information based on the analysis of asinglecell. Therefore, prenatal testing is still recommended and currently remains the standard of care.

Learn more about prenatal testing services at Penn

For more information about preimplantation genetic diagnosis or to schedule an appointment with a Penn Fertility Care specialist, call 800-789-PENN (7366).

Need an appointment? Request one online 24 hours/day, 7 days/week or call 800-789-PENN (7366) to speak to a referral counselor.

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preimplantation genetic diagnosis - Penn Medicine

Department of Genetic Medicine (Research) | – | Weill …

The Department of Genetic Medicine at Weill Cornell Medicine is a highly specialized form of personalized medicine that involves the introduction of genetic material into a patients cells to fight or prevent disease. This experimental approach requires the use of information and data from an individual's genotype or specific DNA signature, to challenge a disease, select a medication or its dosage, provide a specific therapy, or initiate preventative measures specifically suited to the patient. While this technology is still in its infancy, gene therapy has been used with some success and offers the promise of regenerative cures.

As none of New York's premier healthcare networks, Weill Cornell Medicine's genetic research program includes close collaborations with fellow laboratories such as Memorial Sloan Kettering Cancer Center for stem cell projects, Weill Cornell Medical College in Qatar and Hamad Medical Corporation in Doha, Qatar and Bioinformatics and Biostatistical Genetics at Cornell-Ithaca.

Department of Genetic Medicine Services

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine, and we arestudying gene therapy for a number of diseases, such as combined immuno-deficiencies, hemophilia, Parkinson's, cancer and even HIV using a number of different approaches.

Patients interested in gene therapy are invited to participate in our full range of services, including:

-diagnostic testing

-imaging

-laboratory analysis

-clinical informatics

-managed therapies

In addition, we offer genetic testing to provide options for individuals and families seeking per-emptive strategies for addressing the uncertainties surrounding inherited diseases.The Department of Genetic Medicine at Weill Cornell is a pioneer in the advancement of genetics for patients and their families. These are the strengths we draw upon as we collaborate with our integrated network of partners, including the #1 hospital in New York, New York Presbyterian, to make breakthroughs a reality for our patients.

For more information or to schedule an appointment, call us toll-free at 1-855-WCM-WCMU.

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Department of Genetic Medicine (Research) | - | Weill ...