Pilot program offers genomic testing to certain patients …

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FEB. 10, 2014

BY SARA WYKES

Euan Ashley

A small group of patients at Stanford Hospital & Clinics and Lucile Packard Children's Hospital Stanford now can have their DNA deciphered as part of a new pilot program.

The goal of the program, the Clinical Genomics Service, is to help doctors better diagnose and treat genetic conditions. In the pilot phase, genomic testing will be limited to patients with "mystery" diseases (typically children), patients with unexplained hereditary cancer risk, patients with inherited cardiovascular or neurological disease, and those with severe, unexplained drug reactions. Potential participants must be referred by a physician, and the clinical genomics team will then determine whether patient cases are suitable for sequencing.

"I am very excited to bring the pioneering work of Stanford genomic scientists directly to the bedside of our patients," said Euan Ashley, MCRP, DPhil, associate professor of medicine and of genetics and co-director of the new Clinical Genomics Service. "Because of the foresight and support of our leadership, we have a remarkable opportunity to bring world-leading Stanford science to Stanford patients fast and first."

The service will use an integrated approach that includes professional genetic counseling, the most advanced genome sequencing technology available and expert interpretation by molecular genetic pathologists and other physicians with expertise in this emerging and complex field. It will be closely integrated with a broad range of other diagnostic genetic testing now being offered by pathology services at the adult and children's hospitals.

"Stanford has a special wealth of information and analysts," said Jason Merker, MD, PhD, assistant professor of pathology, the service's other co-director. "We involved physicians, other health-care providers, bioethicists, bioinformaticians and other researchers, inviting everyone to voice their thoughts for the broadest, deepest discussions possible on how to apply these new methods and knowledge to clinical care."

Michael Snyder, PhD, director of the Stanford Center for Genomics and Personalized Medicine and chair of genetics, as well as other members of the center, have played a pivotal role in the design and implementation of the service. Also, included in those discussions were Carlos Bustamante, PhD, a professor of genetics who was named a 2010 MacArthur Fellow for his work in genetic sequencing, and Michael Cherry, PhD, associate professor of genetics and principal investigator in several genome database projects.

"This new service can represent the best definition of the term personalized medicine," said Amir Dan Rubin, president and CEO of Stanford Hospital & Clinics. "The collaboration of our world-class experts in patient care and scientific research will advance the leading edge of knowledge in genome sequencing, bringing greater value, in the most responsible way, to what we offer our patients. Our goal is to use this new technology for early and accurate diagnosis and treatment for patients now and to learn and share that knowledge with medicine's new future."

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Gender influences symptoms of genetic disorder

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6-Feb-2014

Contact: Michael C. Purdy 314-286-0122 Washington University School of Medicine

A genetic disorder that affects about 1 in every 2,500 births can cause a bewildering array of clinical problems, including brain tumors, impaired vision, learning disabilities, behavioral problems, heart defects and bone deformities. The symptoms and their severity vary among patients affected by this condition, known as neurofibromatosis type 1 (NF1).

Now, researchers at Washington University School of Medicine in St. Louis have identified a patient's gender as a clear and simple guidepost to help health-care providers anticipate some of the effects of NF1. The scientists report that girls with NF1 are at greater risk of vision loss from brain tumors. They also identified gender-linked differences in male mice that may help explain why boys with NF1 are more vulnerable to learning disabilities.

"This information will help us adjust our strategies for predicting the potential outcomes in patients with NF1 and recommending appropriate treatments," said David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology, who treats NF1 patients at St. Louis Children's Hospital.

The findings appear online in the Annals of Neurology.

Kelly Diggs-Andrews, PhD, a postdoctoral research associate in Gutmann's laboratory, reviewed NF1 patient data collected at the Washington University Neurofibromatosis (NF) Center. In her initial assessment, Diggs-Andrews found that the number of boys and girls was almost equal in a group of nearly 100 NF1 patients who had developed brain tumors known as optic gliomas. But vision loss occurred three times more often in girls with these tumors.

With help from David Wozniak, PhD, research professor of psychiatry, the scientists looked for an explanation in Nf1 mice (which, like NF1 patients, have a mutation in their Nf1 gene). They found that more nerve cells died in the eyes of female mice, and they linked the increased cell death to low levels of cyclic AMP, a chemical messenger that plays important roles in nerve function and health in the brain. In addition, Wozniak discovered that only female Nf1 mice had reduced vision, paralleling what was observed in children with NF1.

Two previous studies have shown that boys with NF1 are at higher risk of learning disorders than girls, including spatial learning and memory problems. To look for the causes of this gender-related difference, the scientists first confirmed that Nf1 mice had learning problems by testing the ability of the mice to find a hidden platform after training. After multiple trials, female Nf1 mice quickly found the hidden platform. In striking contrast, the male Nf1 mice did not, revealing that they had deficits in spatial learning and memory.

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Gender influences symptoms of genetic disorder

Researchers use genetic signals affecting lipid levels to probe heart disease risk

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7-Feb-2014

Contact: John Ascenzi Ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia

New genetic evidence strengthens the case that one well-known type of cholesterol is a likely suspect in causing heart disease, but also casts further doubt on the causal role played by another type. The findings may guide the search for improved treatments for heart disease.

Most of us have heard of "good cholesterol" and "bad cholesterol" coursing through our bloodstream. In the conventional health wisdom of the past 30 years, having more of the "good" variety (high-density lipoprotein, or HDL) lowers your risk of heart disease, while more of the bad one (low-density lipoprotein, LDL) increases your risk. Indeed, over the years, clinical trials and other studies have found that drugs that lower LDL also lower your probability of heart disease.

On the other hand, drug trials have not shown heart-health benefits to increasing HDL or to lowering triglycerides, a third type of blood lipid. Now a new study co-led by scientists at The Children's Hospital of Philadelphia and Penn Medicine sheds light on the role of genes and blood lipid levels in cardiovascular health. Newer tools for gene analysis show how variations in DNA are underlying actors affecting heart diseasea major worldwide cause of death and disability.

"Now we are able to pinpoint gene signals that actually cause some of these conditions," says geneticist Brendan J. Keating, D. Phil., of The Center for Applied Genomics at The Children's Hospital of Philadelphia. "Unraveling how genetic variants that influence lipid traits are related to heart disease risk is a step toward designing treatments." Keating and his colleagues, working in large international collaborative groups, are wielding advanced gene-analysis tools to uncover important clues to heart disease.

Keating collaborated with clinical epidemiologist Michael V. Holmes, M.D., Ph.D., of the Perelman School of Medicine at the University of Pennsylvania, in a blood lipid study published online Jan. 27 in the European Heart Journal. Research co-authors were from six countries and various centers, including the University College London in the U.K.

The study team used a recently developed epidemiology tool called Mendelian randomization (MR). MR analyzes genetic variations using a method that identifies genes responsible for particular diseases, independent of confounding factors such as differences in behavior or environmental influences that often limit the conclusions of epidemiology research. This was one of the largest studies to date using MR, as well as the largest to use an allele-score method, described below.

The researchers analyzed DNA data from 17 studies including over 60,000 individuals, of whom more than 12,000 had experienced coronary heart disease, including heart attacks. Because previous studies had found signals from nearly 200 genes to be associated with blood lipid levels, the study team aggregated data into composite groups, called allele scores, for each of three blood lipids: LDL, HDL and triglycerides, then calculated their relationship to coronary heart disease.

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Researchers use genetic signals affecting lipid levels to probe heart disease risk

Corporate Social Responsibility and Green Tech – Futurist Keynote Speaker – Video

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Corporate Social Responsibility and Green Tech - Futurist Keynote Speaker
Keynote Presentation by Patrick Dixon for Xylem on green technology, corporate social responsibility and positive corporate social action that improves busin...

By: Patrick Dixon Futurist YouTube Videos

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Corporate Social Responsibility and Green Tech - Futurist Keynote Speaker - Video

Global Futurist and Trends Expert, Jack Uldrich, to …

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February 7th, Educational Trends Expert and Futurist, Jack Uldrich will speak at the 48th Annual AAIE Conference. Uldrich will be addressing their theme of "Eyes on the Future: Future Trends and Foresight Education."

Boston, MA (PRWEB) February 06, 2014

From Thursday, February 6, to Sunday, February 9, the Association for the Advancement of International Education will be holding its 48th Annual Conference at the Westin Copley Place in Boston, MA. The keynote address will be given on February 7th by noted futurist and author, Jack Uldrich.

This year's AAIE conference theme of "Eyes on the Future: Future Trends and Foresight Education" will be addressed by Uldrich as he shares insights from his latest book, "Foresight 20/20: A Futurist Explores the Trends Transforming Tomorrow," and highlights from "Higher Unlearning: 39 Post-Requisite Lessons for Achieving a Successful Future."

During his presentation, Uldrich will focus on the practice of unlearning as a key concept, (a video of his TED Talk on unlearning can be viewed here: http://www.youtube.com/watch?v=AR9fdhJGxtI.)

Uldrich will also provide an overview of how technological change and enhanced mobility is rapidly shifting the expectations and behavior of students, teachers, parents and administration, thereby upending long-standing educational models. Throughout the presentation, Uldrich will use vivid analogies and memorable stories, and videos and games drawn from a wide spectrum of industries, to ensure his message of change is both inspirational and applicable.

A sample of some his ideas on the future of education can be found in this chapter, The Future of Higher Education: A Cloudy Forecast from his latest book Foresight 2020: A Futurist Explores the Trends Transforming Tomorrow.

In the past year, Uldrich has addressed dozens of educational groups and associations, including customized keynote presentations for Indiana University, The Council of Great Lakes Schools, The University of Minnesotas Carlson School of Business, Educational Services of America, Belmont University, The Chief Learning Officers Summit, The Minneapolis Public School System, The Teaching and Technology Conference, The League of Innovation, The California League of Middle Schools, The American Technical Education Association and the 2013 European Association for International Education's annual conference, in Istanbul. Uldrich has also addressed a number of major, non education-related corporations and institutions on the topics of future trends, change management and unlearning, including Cisco, IBM, PepsiCo, United Healthcare, Case IH, Guardian Life Insurance, WiPro, and General Electric.

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Global Futurist and Trends Expert, Jack Uldrich, to ...

Students embrace avant-garde theatre style

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From the time of the Ancient Greeks, theater as an artistic expression has taken many forms and shapes. Despite more than 2000 years of history, that evolutionary tradition continues to this day. One of the newest forms of theater is called neo-futurism, and is being performed by theater students at Southern Illinois University Edwardsville. We invited five of them to talk about this new form of expression. They are: Tyson Cole, Jeffrey Bennett, Emily Speight, Amanda Wales and Ryan Wiechmann. For Bennett, a term often used for neo futurism is disposable art.

It is creating new art without focusing too much on what has come before by creating new and exciting things right in the space that they are performed, he explained. There are no characters. There is no setting. Every piece takes place on the stage with the people who are performing those particular pieces. Another term oftentimes used to describe this movement is honest art, which Wales thinks is a good description for it.

One of the coolest things I found with neo-futurism is that all of the performers use their own names. So youre never doing a character, youre never acting as someone else, said Wales. When you actually put on the neo-futurist pieces, the lines will say whoever they were actually written for. Then when you perform you substitute the name of the actors youre using. You are just being yourself in different situations. Youre not putting on a persona.

Since most theatergoers are accustomed to plays where someone can be identified as the author, one wonders who really writes these neo-futurist pieces.

The different members of the neo-futurists write it, said Cole. They often write from their own personal experiences. That is why it is honest theater because they are talking about themselves, they are talking about what they have gone through and how that relates back to the art. There is no question that this form of theater is wide open for creativity. I asked if the SIUE students had observed this type of theater elsewhere, and were they inspired by it. Wiechmann said that he has seen such performances.

Normally the neo-futurists do 30 short plays in 60 minutes, said Wiechmann. I have seen a 15-minute production with seven plays in high school. And then I have seen YouTube videos. We all watched them when we were preparing for the show. It is really interesting to see how different ages and different groups of people will interpret the pieces and their quality of production. But if the approach to performing is so different, what about the themes of the shows?

There was one we did in the full show called Rape and it was really serious and played with the idea of people using the word rape in a lighthearted way, said Wales. For example, if someone were to say, That test raped me, they point out how serious it is and how terrible it can be to compare a small not very tragic event with something as tragic as rape. Then there are also pieces that are very silly like Danger Can. There are really hard hitting personal scenes and then there are pieces that are meant to be ridiculous and make the audience laugh. With such diversity of approaches, one expects that they may even get the audience to participate.

There is a piece called Do What You Will. It gives the audience permission to do whatever they want on the stage, said Cole. We talk for about 30 seconds and the rest of the time the audience is invited to come up and do whatever they want.

This type of theater, added Speight, tries to invite people into theater. It tries to build a relationship with the audience, she said. It tries to get them involved as much as possible and just let them experience something different that they have never experienced before.

In their first show these students performed 40 pieces in 80 minutes. The question is how these students from a midsize university in the Midwest became interested in such an avant-garde art form in the first place.

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Students embrace avant-garde theatre style