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Two groups joined to publish advice for doctors trying to decide whether the latest genetic testing is right for their youngest patients.

Should worried parents be able to test their babies for diseases they may develop down the road, just because theyre curious? Should worried teens be able to screen themselves, without parental knowledge, for disorders that may manifest decades in their future? And what about delving into your kids DNA on your own, with the help of direct-to-consumer testing?

These are some of the difficult issues addressed by a new statement on genetic testing in children issued by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG).

The joint statement a first for the two groups acknowledges that genetic testing is evolving so rapidly that physicians need guidance navigating what can be an ethical, legal and social thicket. They are not binding, but rather recommendations for how physicians, to whom parents turn for counsel about challenging genetic issues, should ideally proceed.

Genetics is changing rapidly before our eyes, says Dr. Lainie Friedman Ross, a professor of pediatrics and clinical ethics at the University of Chicago and the statements lead author. From a general pediatricians perspective, its really important we start thinking about this.

(MORE: Do All Women Need Genetic Testing Before Pregnancy?)

The agencies policies were long due for an update. The ACMG last issued a statement in 1995; the AAP came out with one in 2001. The current guidelines appear in two versions the journal Pediatrics contains the policy statement, while Genetics in Medicine includes a technical report that delves into the framework of the recommendations and outlines the arguments behind the policy. This very thoughtfully lays out the benefits of testing but also some of the risks inherent in testing so that health-care providers and parents and patients understand the ramifications and know when its useful and when it may not be so useful, says Dr. Mira Irons, associate chief of the division of genetics at Boston Childrens Hospital.

Nearly all parents encounter genetic testing as soon as they welcome a child into the world. All states perform newborn screening, mostly to detect genetic diseases so that treatment can begin as early s possible. The screening is mandatory, but as is the case with immunization, parents may opt out. Yet many dont even realize their infant is being tested, so the new statement emphasizes the importance of asking parents if they want the testing. This might take a little bit more time, but I believe parents will make the right decisions, says Ross. In Maryland, which previously asked parents for consent, less than 0.1% of parents declined. If they refuse, we need to educate and reeducate.

MORE: Kids and DNA series

Excerpt from:
New Guidelines for Genetic Testing in Children

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By Lara Salahi, Boston.com Correspondent

For many parents who face a family history of devestating genetic diseases, the question of whether their child is at risk, and his or her chances of getting the disease, may not be far from mind. The rise in popularity of at-home genetic tests suggest some feel the answers to those questions may no longer be a secret.

But many experts say the anxiety that comes along with predictive test and no definitive results does more harm than good. Thats why a new policy statement by the American Academy of Pediatrics and the American College of Medical Genetics aims to put the brakes on testing children used to identify genetically inherited childhood diseases and diseases that can occur when they become adults.

Physicians should discourage testing in children for adult onset genetic disease, especially if there is no treatment to give during childhood to prevent the disease, according to the new policy statement released Thursday.

In that case, theres nothing the person can do differently until they are an adult, said Dr. Lainie Ross, the Carolyn and Matthew Bucksbaum professor of clinical ethics at the University of Chicago and lead author of the accompanying report published Thursday in the journal Genetics in Medicine.

The statement is the first time both organizations have teamed together. The last time the American Academy of Pediatrics released a statement on genetic testing was in 2001.

Because screening tests dont provide definitive answers, for some families, the findings may lead to anxiety and more questions, said Ross.

With genetics, weve come to learn that its complicated, and people have different reactions to it, she said. Some families need to live with the ambiguity.

Within the first few days of life, nearly every newborn undergoes screening for certain genetic disorders. From then on, physicians dont regularly offer genetic testing for children. But with the rise of new tests and new ways to identify genetic disorders, the number of families opting for genetic testing has dramatically increased.

At-home genetic tests such as 23 and Me pose the largest concern since people who take those tests are often not counseled by genetic experts, Ross said.

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Physician organizations recommend against genetic testing for children

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(28) Jaynia -- INFO: Genetics

By: CSULA OralComm

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(28) Jaynia -- INFO: Genetics - Video

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Ep 34 - Waikaka Genetics - PGG Wrightson Stud Tour
Rural TV NZ in association with New Zealand #39;s leading agriculture company, PGG Wrightson, present the PGG Wrightson Stud Tour 2012. WAIKAKA GENETICS -- Paterson Family -- Outram, Southland This week on the PGG Wrightson Stud Tour we the Paterson family, Laurie, Sharon and their son Ross and his wife Steph, farming just out of Waikaka in Southland. The Paterson family, along with Sharons family the Kings of the Lilburn Valley, have been breeding Herefords for decades, and now with their son marrying into the Lake Station Herefords, this family is a powerful force when it comes to Hereford genetics in New Zealand! Not only are the Paterson #39;s concentrating on their years of Hereford breeding and Laurie #39;s strong involvement in the evolution of the Hereford Prime programme, they also run four sheep studs -- Romney, Romdale, Romex (RomTex) and Texel. Sharon #39;s passion for Texel #39;s is very special and profound in the growing market for Texel in the New Zealand lamb industry. Tony Glynn, of Rural TV (NZ) learns of the level of technology the Waikaka Genetics team have implemented into their breeding programme, and value the recording it provides down the chain. Tony also confesses his love for Sharon #39;s views on family farm succession with a brillant philosophy for all to adopt (have to watch right to the end of the episode!) This episode is sure to leave you inspired with the hard work that is happening in the Waikaka Genetics yards to evolve the adoption of technology. MAKE SURE ...

By: RURALTVNZ

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Ep 34 - Waikaka Genetics - PGG Wrightson Stud Tour - Video

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Healthy, happy young ProCross cows at Hoekstra Dairy 2013
Creative Genetics of California Inc. Open House February 15th of 2013 at Hoekstra Dairy, Oakdale, California.

By: frankspage

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medium
Introducing THE most amazing Grace I have ever met! After more than a year of very hard work, high school senior and amazing artist, Julia Sacha, and I have collaborated to create 24 and 23 Make Me, a book in which a teenager named Grace, who has Down #39;s Syndrome, explains the genetics of how she became so very special. All royalties will be donated to the SC Special Olympics. God has blessed me indeed by bringing the real Grace into my life. Love to all of you, Merrie PS This Friday, March 1, 7 pm, McAlister Field House, The Citadel, Opening Ceremonies for the SC Winter Games. Won #39;t you join Team Grace if you can?!

By: merriesouthgate

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Research Experience for Undergraduates 2012, Schnable Lab, ISU
A group of young people who are interested in plant genetics and genomics joined the Schnable Lab at Iowa State University in 2012 for a summer internship. They learned by working in the lab, in the field and visiting places.

By: An-Ping Hsia

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Research Experience for Undergraduates 2012, Schnable Lab, ISU - Video

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Genetics Study Guide Review
This video walks through parts of the study guide due before our exam on Genetics.

By: David Herbst

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Genetics Study Guide Review - Video

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PrimalBurn Exercise - Paleo Burn System
The #1 Worst Food For Weight Gain Revealed. "Click " goo.gl Paleo Burn System - PrimalBurn Exercise Obesity is a condition that is the result of excessive body fat accumulation. It is most often caused by overeating combined with little or no physical activity. It can also be the result of genetics, medications or other disorders. Obesity is determined by the body mass index, or BMI. BMI is calculated by dividing weight by the number of inches in height squared. This figure is multiplied by 703 to get the percentage of body fat. In most cases a BMI of over 30 percent is considered obese for an average adult. Unfortunately, obesity has become extremely common in the United States, where over 37 percent of adults have this condition. The consequences of this epidemic are very serious for many reasons. Obesity greatly increases the chances of a long list of health problems and, depending on the disease, can even result in death. Obesity commonly increases the risk of heart disease and type 2 diabetes, two very serious medical conditions. In addition, obesity can cause sleep apnea, a condition that obstructs the airway during sleep. Asthma, osteoarthritis and cancer are among other conditions that have been linked to obesity. Such serious health problems place a burden on the patient as well as family and friends. Among the many other serious problems due to obesity include its high financial costs. Hospitalization, medication, missed days from work and other issues stemming ...

By: thanawut kappako

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Mazda Takeri Concept ENGLISH VERSION
The Mazda Takeri Concept is a sedan that was presented for the first time in the Motorshow of Tokio at the end of 2011. It is other of the concept that keeps with the new esthetics of the "Kodo" design, modern and breaking, that in first place the genetics of the future models of the brand of Hirosima.

By: DistritoMotor

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Mazda Takeri Concept ENGLISH VERSION - Video

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Poor Genetics You Can #39;t Lose Weight?
#39;Like #39; facebook.com Do your poor genetics mean you can #39;t lose weight or build muscle in the gym? Fitness trainer Russ Howe PTI gives his verdict on why so many fitness enthusiasts are too quick to show the genetics card in this argument. Russ trains a wide variety of people in the gym with a broad set of physical goals to achieve, and has known many people to literally hold themselves back by believing their genetic code is preventing them from building the type of body the want to achieve. Genetics are often discussed in bodybuilding circles because once an athlete in any sport reaches the pinnacle, it can become a battle of who simply has the better genetics. For most people, however, genetics are simply not a serious issue. They don #39;t become a reason for anything until you #39;re pushing towards your own genetic ceiling, by which time you #39;d already be in fantastic shape and probably wouldn #39;t be too concerned about it anyway. No, you are not genetically programmed to be fat. Nor are you genetically designed to have no muscle. Stop believing in myths which were started up by people who simply lacked the desire to push themselves hard in the gym. More no nonsense, common sense training and nutritional advice simply log on to the official Russ Howe PTI blog at http://www.RussHowePTI.com Gym wear and the top recommended supplements are now also provided on site.

By: RussHowePTI

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Poor Genetics You Can't Lose Weight? - Video

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Dr. Eric Genden on Thyroid Cancer and Genetics
Mount Sinai #39;s Dr. Eric Genden addresses issues relatiing to genes and thyroid cancer, now and in the future.

By: MountSinaiNY

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Dr. Eric Genden on Thyroid Cancer and Genetics - Video

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Hopi Hoekstra (Harvard University) Part 3: Genetics of Behavior
The Genetic Basis of Evolutionary Change in Morphology and Behavior Overview In Part 1, Hoekstra explains that her lab is working to understand how changes in an organism #39;s DNA result in adaptations that allow the organism to better survive or reproduce in the wild. She uses wild mice in the genus Peromyscus (commonly referred to as deer mice) as a model system because they are found in large numbers in many different habitats, allowing for many examples of adaptation to local environments, and they also thrive in a lab environment. In Part 2, Hoekstra explains how members of her lab studied the effects of a phenotypic adaptation, in this case coat color, on the ability of mouse populations to survive in different habitats. By crossing mice with light and dark coats and analyzing the genomes of the offspring, Hoekstra and her colleagues were able to identify several genes, and specific mutations in those genes, that determine coat color. Amazingly, one of the same mutations may have determined coat color in ancient mammoths! The link between genes and behavior is the focus of Hoekstra #39;s third talk. By studying burrowing behavior in two species of mice, both in the lab and in the wild, Hoekstra showed that burrowing is not strictly a learned behavior and is, in fact, controlled by a small number of genes. Biography After a short stint studying political science in college, Hopi Hoekstra switched her focus to biology. She received her BA in Integrative Biology from UC ...

By: ibioseminars

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Hopi Hoekstra (Harvard University) Part 3: Genetics of Behavior - Video

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Hopi Hoekstra (Harvard University) Part 2: Genetics of Morphology
The Genetic Basis of Evolutionary Change in Morphology and Behavior Overview In Part 1, Hoekstra explains that her lab is working to understand how changes in an organism #39;s DNA result in adaptations that allow the organism to better survive or reproduce in the wild. She uses wild mice in the genus Peromyscus (commonly referred to as deer mice) as a model system because they are found in large numbers in many different habitats, allowing for many examples of adaptation to local environments, and they also thrive in a lab environment. In Part 2, Hoekstra explains how members of her lab studied the effects of a phenotypic adaptation, in this case coat color, on the ability of mouse populations to survive in different habitats. By crossing mice with light and dark coats and analyzing the genomes of the offspring, Hoekstra and her colleagues were able to identify several genes, and specific mutations in those genes, that determine coat color. Amazingly, one of the same mutations may have determined coat color in ancient mammoths! The link between genes and behavior is the focus of Hoekstra #39;s third talk. By studying burrowing behavior in two species of mice, both in the lab and in the wild, Hoekstra showed that burrowing is not strictly a learned behavior and is, in fact, controlled by a small number of genes. Biography After a short stint studying political science in college, Hopi Hoekstra switched her focus to biology. She received her BA in Integrative Biology from UC ...

By: ibioseminars

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Hopi Hoekstra (Harvard University) Part 2: Genetics of Morphology - Video

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fightsanfilippo. Sanfilippo angels
Hundreds of children are in a life #39;s threatening condition. MPSIII or Sanfilippo Syndrome. There #39;s no cure or treatment, only HOPE. Please, help us to save their lifes. Help us finance the first American Gene Therapy clinical trial to cure Sanfilippo type A and B, and the next one, to cure Sanfilippo C

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New Study at the Center for Regenerative Medicine - Mayo Clinic
The Center for Regenerative Medicine at Mayo Clinic investigates what advances of stem cell biology would be useful to apply in the treatment of patients with end stage diseases. Jorge Rakela, MD, associate director for the Center, provides an overview of the Center which is also involved in a tissue engineering program with Arizona State University. Jeffery Cornella, MD, a gynecological surgeon at Mayo Clinic, and Johnny Yi, MD, a surgical fellow at Mayo Clinic, talk about a study underway to develop new tissue to aid in the treatment of vaginal prolapse and other conditions.

By: mayoclinic

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New Study at the Center for Regenerative Medicine - Mayo Clinic - Video

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SILVER SPRING, Md., Feb. 20, 2013 (GLOBE NEWSWIRE) -- Nuvilex, Inc. (NVLX), international biotechnology and clinical stage provider of natural products and cell and gene therapy solutions for the treatment of diseases, announced today its subsidiary, Medical Marijuana Sciences, Inc., is planning to develop treatments for pancreatic cancer based on cannabinoids from Cannabis sativa.

In 2006, in a publication in the prestigious scientific journal Cancer Research, cannabinoids were reported to cause the death of pancreatic cells in laboratory and animal studies; these results were also seen with human pancreatic cancer cells implanted in mice whose immune systems were suppressed. Since then, laboratory studies have shown that when gemcitabine (Gemzar(R)), the only drug approved by the FDA as a single agent for the treatment of advanced pancreatic cancer, was combined with three different cannabinoids (each used singly), the growth inhibition was more than additive for six different pancreatic cancer cell lines. When these studies were done with human pancreatic cancer cells in immunosuppressed mice, the antitumor effectiveness of gemcitabine was greatly enhanced. These results, combined with those from other studies not mentioned here, indicate the important potential for developing treatments for pancreatic cancer that include the use of cannabinoids.

Pancreatic cancer is the fourth deadliest form of cancer worldwide. In 2013, it is estimated that more than 45,000 people in the US alone will be newly diagnosed with pancreatic cancer and that more than 38,000 people will die from this disease (Cancer Facts & Figures 2013 --American Cancer Society). Pancreatic cancer is extremely hard to detect; it does not show symptoms until it is at an advanced stage and, to date, treatments have only been marginally effective. The median survival of those with advanced, inoperable, pancreatic cancer is given in terms of weeks or months, not years.

Gemzar(R) was approved on the basis that it increased median survival of patients by a mere 1.6 months over the best previously available treatment -- this illustrates dramatically the difficulty in treating this form of cancer successfully. Several drugs have been combined with gemcitabine in an effort to improve survival rates, but they have only increased survival by a few months, if at all. Accordingly, there is a great need for the development of new treatments for this devastating form of cancer.

"The development of treatments for pancreatic cancer that include cannabinoids is an obvious avenue for Nuvilex to follow because of our interest in this difficult-to-treat cancer in addition to our understanding of both the cancer biology and the drug chemistry," noted Dr. Gerald Crabtree, COO. He continued, "We are already working in the pancreatic cancer area with the Company's treatment for advanced, inoperable, disease (currently being readied for late-phase clinical trials) that involves our unique, living cell encapsulation technology. Thus, a significant portion of Nuvilex's efforts will be devoted to developing novel, effective treatments against pancreatic cancer."

About Nuvilex

Nuvilex, Inc. (NVLX) has been a provider of all-natural products for many years. The company has been expanded to increase its natural product-based footprint through medical marijuana studies. We are an international biotechnology provider of live, therapeutically valuable, encapsulated cells and services for research and medicine. New developments by our company and subsidiaries will be substantial as we have been working on many fronts to move us forward. Our company's offerings will ultimately include cancer, diabetes and other treatments using the Company's natural product knowledge, product base, cell and gene therapy expertise, and live-cell encapsulation technology in addition to other new products currently under development.

The Nuvilex, Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=13494

Safe Harbor Statement

This press release contains forward-looking statements described within the 1995 Private Securities Litigation Reform Act involving risks and uncertainties including product demand, market competition, and meeting current or future plans which may cause actual results, events, and performances, expressed or implied, to vary and/or differ from those contemplated or predicted. Investors should study and understand all risks before making an investment decision. Readers are recommended not to place undue reliance on forward-looking statements or information. Nuvilex is not obliged to publicly release revisions to any forward-looking statement, reflect events or circumstances afterward, or disclose unanticipated occurrences, except as required under applicable laws.

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Nuvilex Reports Cannabinoid-Based Pancreatic Cancer Treatments to be Developed by Its Subsidiary, Medical Marijuana ...

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Public release date: 19-Feb-2013 [ | E-mail | Share ]

Contact: Kim Polacek kim.polacek@moffitt.org 813-745-7408 H. Lee Moffitt Cancer Center & Research Institute

Researchers at the Moffitt Cancer Center have found a potential mechanism by which immune suppressive myeloid-derived suppressor cells can prevent immune response from developing in cancer. This mechanism includes silencing the tumor suppressor gene retinoblastoma 1 or Rb1. Their data explains a new regulatory mechanism by which myeloid-derived suppressor cells are expanded in cancer.

Their study appeared in a recent issue of Nature Immunology.

According to the authors, two kinds of myeloid-derived suppressor cells - monocytic M-MDSCs and granulocytic PMN-MDSCs - regulate immune responses in cancer and other conditions. In experiments with tumor-bearing mice, they discovered that M-MDSCs acquire some of the physical characteristics of PMN-MDSCs. Acquisition of the PMN-MDSCs characteristics, they found, was "mediated" by the silencing of Rb1 by modifications in a histone deacetylase 2 (HDAC-2), an enzyme decoded by the HDAC2 gene.

"Our findings demonstrate the function of a newly discovered regulatory mechanism of myeloid cells in cancer," said study lead author Dmitry I. Gabrilovich, M.D., senior member of Moffitt's Immunology Program.

According to study first author Je-In Youn, Ph.D., a post-doctoral fellow in the Gabrilovich laboratory, Rb1 is among members of the retinoblastoma family of transcription regulators that integrate multiple cellular signals to control cell proliferation and differentiation. In their experiments, the researchers found that when Rb1 was deficient in tumor-bearing mice it indicated a direct role for Rb1 in regulating M-MDSC differentiation toward PMN-MDSCs.

Their data suggested that Rb1 silencing could be initiated by HDAC-2 which, said Youn, is known to be involved in modulating the repressive activity on promoters of certain genes involved in cell differentiation.

They proposed that, in tumors, a large portion of M-MDSCs acquire the ability to differentiate into PMN-MDSCs and that it "appears that, in cancer, M-MDSCs probably acquire the ability to differentiate into PMN-MDSCs" and "may represent an important pathways for the accumulation of these cells in contrast to normal monocytes."

"We demonstrated that HDAC-2 can directly interact with Rb1 promoter and participate in silencing Rb1 expression," said study co-author Vinit Kumar, Ph.D., also a post-doctoral fellow in the Gabrilovich laboratory. He added that "silencing Rb1 expression in monocytes and other myeloid progenitors may be critical to the accumulation of PMN-MDSCs."

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Moffitt researchers say silencing of retinoblastoma gene regulates differentiation of myeloid cells

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NASHVILLE, Tenn.--(BUSINESS WIRE)--

Diagnovus, LLC, a molecular diagnostic company focused on underserved, aggressive and lesser-known diseases, today announced the launch of ENGAUGETM-cancer-DLBCL, the first commercial gene expression assay that can aid physicians in better risk stratification and treatment of patients with diffuse large B-cell lymphoma (DLBCL).

DLBCL is an aggressive tumor that can arise in virtually any part of the body. It is the most common sub-type of non-Hodgkin lymphoma, with an incidence of 7-8 cases per 100,000 people per year. Physicians currently assess a patients DLBCL risk of disease progression and outcome by using the International Prognostic Index (IPI), but more accurate classification of patients based on the underlying tumor biology is needed to allow physicians and patients to make more informed treatment decisions.

ENGAUGETM-cancer-DLBCL, which combines a patients IPI score and the results of the gene expression assay, can more accurately predict outcomes for patients than IPI alone in order to optimize treatment choices for patients, said Dr. Ron Levy, leader of the Lymphoma Program at Stanford University School of Medicine. Traditional stratification schemes based on clinical characteristics such as the IPI have provided prognostic guidance in the management of patients with DLBCL. Despite the ease of use, IPI does not fully capture disease heterogeneity, and it is common to have two patients with identical IPI risk scores have very different outcomes.

Dr. Izidore Lossos, University of Miami head of Lymphoma, said, Application of better prognostic models at diagnosis will change the treatment of DLBCL patients, leading to more effective care. Knowledge of molecular prognostic markers may identify cellular mechanisms leading to the recognition of specific molecular targets for new therapeutic approaches.

According to James Stover, Ph.D., vice president and co-founder of Diagnovus, the company is committed to bringing personalized medicine to patients afflicted with these aggressive, underserved diseases by developing assays that assist physicians in achieving better outcomes for their patients. The ENGAUGETM-cancer-DLBCL assay is the first of a comprehensive line of molecular diagnostic tests for less frequent diseases.

Using well-studied genes incorporated into a multiplexed panel, ENGAUGETM-cancer-DLBCL has been developed from more than 10 years of research and exceeds the standard clinical characteristics that clinicians have used for prognosis for the last three decades, Dr. Stover said. Even more important is the fact that we can perform this assay in a reproducible and accurate manner using routinely available formalin-fixed, paraffin-embedded (FFPE) diagnostic biopsy tissue, unlike other genome-based assays that require special handling, such as snap freezing in liquid nitrogen.

About DLBCL

Diffuse large B-cell lymphoma is a cancer of B cells, a type of white blood cell called lymphocytes responsible for producing antibodies. It occurs primarily in older individuals, with a median age at diagnosis of around 70, although in rare cases it can occur in children and young adults. The standard of care for the treatment of most cases of DLBCL is the R-CHOP regimenmulti-agent chemotherapy plus a therapeutic antibody directed against CD20, a marker of B-lymphocytes. Despite this treatment, however, DLBCL is still incurable in about 50 percent of cases.

About Diagnovus

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Diagnovus Launches First Commercial Gene Expression Assay for Patients With Diffuse Large B-Cell Lymphoma

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Feb. 18, 2013 Scientists at Queen Mary, University of London have identified a gene present in some melanoma which appears to make the tumour cells more resistant to treatment, according to research published February 19 in the Journal of Experimental Medicine.

The scientists discovered that the gene TP63 is unexpectedly expressed in some melanoma and correlates significantly with a worse prognosis. It is hoped this new understanding of what makes some melanoma cells so difficult to kill will help inform the development of new therapies.

Melanoma is a form of skin cancer which usually appears on the body as a new or changing mole. Almost 13,000 people in the UK are diagnosed with melanoma each year. While it is less common than other forms of skin cancer -- around five per cent of skin cancers are melanoma -- it results in around 75 per cent of skin cancer related deaths (more than 2000 deaths a year in the UK).

The number of cases of melanoma is rising faster than almost any other cancer and one of the main risk factors is ultraviolet light, which comes from the sun or sunbeds. While early-stage melanomas can often be removed by surgery, more advanced melanomas are much harder to treat.

Dr Daniele Bergamaschi, a senior lecturer in cutaneous research at Queen Mary said: "For most patients where the melanoma has spread beyond the skin, there are few effective treatments and overall survival rates for this disease have not changed much over the past 30 years.

"To develop better treatments we need to understand the basic biology underpinning why these cells are so resistant to being killed."

The researchers analysed 156 melanoma tissue samples from 129 individuals for expression of the protein p63 -- the protein encoded by the gene TP63. They found that p63 was expressed in more than 50 per cent of the samples (58% of primary metastatic samples, 53% of recurrent samples and 66% of metastatic samples) and correlated significantly with death from melanoma.

Dr Bergamaschi said: "We did not expect to find the TP63 gene expressed in melanoma. It is not usually found in the melanocytes (skin pigment cells), which are the cells from which melanomas develop. However, it appears in some cases this gene is turned on as the tumour forms, and when it does it is linked to a worse prognosis."

The researchers suggest that the TP63 gene, and the subsequent production of the protein p63 in some melanoma, is inhibiting the apoptotic function of the protein p53. One of the main activities mediated by p53 is apoptosis -- the process of programmed cell death and one of the main mechanisms by which cancer cells die.

Dr Bergamaschi said: "The apoptotic pathway is often not working in melanoma. However this is not explained by mutations in the TP53 gene, which encodes for the p53 protein, as evidence suggests this is mutated in less than 10 per cent of melanoma.

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Gene linked to worse outcomes for melanoma

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Project Human Genetic Engineering
Astronomy Project Human Genetic Engineering Professor Howard Daniela and Adriana Gonzalez

By: Daniela Gonzalez

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Project Human Genetic Engineering - Video

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The Wall Street Journal reports that China's BGI is sequencing around 2,200 samples of individuals with high IQ in order to identify genes associated with intelligence.

The project is sequencing the genomes of people with IQs of 160 or higher. As the WSJ notes, "the average Nobel laureate registers at around 145." These genomes will be compared with sequences from the general population in the hope of identifying genes linked to high IQ. The scientists expect to have results in three months.

BGI's Zhao Bowen, who is leading the project, acknowledges that the genetics of intelligence is a "controversial topic" in the West, but says "that's not the case in China," where the Shenzhen government is paying for half the project and BGI the other half.

Most of the samples have come from a project led by Robert Plomin, a professor of behavioral genetics at King's College, London, who has collected DNA samples from around 1,600 individuals through a US project called the Study of Mathematically Precocious Youth.

It's worth questioning whether several thousand genomes will be sufficient to identify genes associated with a complex trait like intelligence. As the article notes, citing height as an example, "attempts to find height-related genes didn't yield any reliable hits until the number of DNA samples exceeded 10,000."

However, Stephen Hsu from Michigan State University, a collaborator on the project, tells the WSJ that the fact that the scientists are studying an extreme phenotype IQs over 160 will serve as a shortcut for finding intelligence-related genes.

Most of the participants in the study are the cognitive equivalent of people "who are 6-foot-9-inches tall," Hsu says, making it relatively easy to identify IQ-related genes.

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BGI Hunts for Genetic Links to High IQ

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Public release date: 19-Feb-2013 [ | E-mail | Share ]

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

New Rochelle, NY, February 19, 2013A large study of nearly half a million older adults followed for about 12 years revealed a clear trend: as coffee drinking increased, the risk of death decreased. Study author Neal Freedman, PhD, MPH, National Cancer Institute, discusses the significance of these findings and the potential links between coffee drinking, caffeine consumption, and various specific causes of disease in an interview in Journal of Caffeine Research, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Caffeine Research website at http://www.liebertpub.com/jcr.

"Epidemiology of Caffeine Consumption and Association of Coffee Drinking with Total and Cause-specific Mortality" presents an in-depth interview exploring the many factors that could contribute to the association between coffee, disease, and mortality.

Dr. Freedman examines the relationship between coffee drinking and behaviors such as smoking and alcohol abuse, the physiological effects of caffeine on blood pressure and cardiac function, and the importance of differentiating between the effects of coffee and caffeine.

"Given the near-universal daily consumption of caffeine, Dr. Freedman's research underscores the urgent need for randomized controlled trials to identify which components of coffee and other caffeine beverages benefit or harm consumers, under what circumstances, and in relation to which health outcomes," says Jack E. James, PhD, Editor-in-Chief of Journal of Caffeine Research.

###

About the Journal

Journal of Caffeine Research: The International Multidisciplinary Journal of Caffeine Science is a quarterly journal published in print and online that covers the effects of caffeine on a wide range of diseases and conditions, including mood disorders, neurological disorders, cognitive performance, cardiovascular disease, and sports performance. The Journal explores all aspects of caffeine science including the biochemistry of caffeine; its actions on the human body; benefits, dangers, and contraindications; and caffeine addiction and withdrawal, across all stages of the human life span from prenatal exposure to end-of-life. Complete tables of content and a sample issue may be viewed on the Journal of Caffeine Research website at http://www.liebertpub.com/jcr.

About the Publisher

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Is there a link between coffee drinking and mortality?

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Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

What if, before your children were born, you could make sure they had the genes to be taller or smarter? Would that tempt you, or would you find it unnerving?

What if that genetic engineering would save a child from a rare disease?

As advancements in science bring these ideas closer to reality, a group of experts faced off two against two in an Intelligence Squared U.S. debate on the proposition: "Prohibit Genetically Engineered Babies."

Before the debate, 24 percent of the audience supported the idea of prohibiting genetic engineering of babies, while 30 percent were against. Forty-six percent were undecided. After each side presented its case, 41 percent of the audience voted for the motion, "Prohibit Genetically Engineered Babies," while 49 percent sided with the experts arguing against it making them the winners of the debate.

Those debating were:

Robert Winston argues in favor of banning genetic engineering of babies.

Robert Winston argues in favor of banning genetic engineering of babies.

FOR THE MOTION

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Should We Prohibit Genetically Engineered Babies?

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REDWOOD CITY, Calif., Feb. 20, 2013 /PRNewswire/ -- Ingenuity Systems, a leading provider of biomedical information and analysis solutions, today announced that the company will complete comprehensive curation of all human phenotype-implicated mutations in the peer-reviewed biomedical literature. The comprehensive curation of hereditary, cancer and pharmacogenetic mutations will be integrated into the Ingenuity Knowledge Base and made available in Ingenuity Variant Analysis, a web-based analysis application that enables rapid identification of causal variants for human diseases from sequencing data.

"Human genome interpretation requires up-to-date, accurate and comprehensive information on populations' variant frequencies, causal network interactions, curated disease models and evidence from the biomedical literature in order to establish strong links from variants, genes and pathways to diseases and optimal treatment," said Dr. Christopher E. Mason, Assistant Professor, Weill Cornell Medical College. "Ingenuity's commitment to provide ready access to high-quality, comprehensive and structured biomedical content will enable us to achieve the next level of fast, in-depth genome interpretation that is so critical to unlocking the full potential of personalized and precision medicine."

The Ingenuity Knowledge Base is a 14 year effort to accurately, manually curate and computationally structure the biomedical literature, all human disease implicated variants and the thousands of disease models all of which are critical for the interpretation of NGS sequence data and the clinical assessment of variants observed in molecular diagnostic panels.

"This game-changing effort to richly curate and structure all published mutations has been underway for years," said Dr. Doug Bassett, Ingenuity Systems, Chief Scientific Officer and Chief Technical Officer."We are very close to completing the curation of all hereditary, pharmacogenetic and cancer mutations this year and then will maintain up-to-date coverage going forward. Millions of expert-curate findings from the biomedical literature are already available to users of Variant Analysis establishing rich relationships between and among variants, genes, protein and therapies to enable rapid identification of causal and actionable variants."

About Ingenuity Systems

Ingenuity Systems is a leading provider of biomedical information and analysis solutionsfor the exploration, interpretation and analysis of complex biological systems inlife science research and molecular diagnostics.Today, Ingenuity's solutions are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.

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Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation

Recommendation and review posted by Bethany Smith