MEDIA RELEASE

SCIENTISTS MAKE GROUNDBREAKING DISCOVERY OF MUTATION CAUSING GENETIC DISORDER IN HUMANS

1. Scientists at A*STARs Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome[1]. Their groundbreaking findings were published on May13thin the prestigious journal Nature Genetics. The work lends new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility.

2. Hamamy syndrome is a rare genetic disorder which is marked by abnormal facial features (Annex A) and defects in the heart, bone, blood and reproductive cells. Its exact cause was unknown until now. The international team, led by scientists at IMB, have pinpointed the genetic mistake to be a mutation in a single gene called IRX5.

3. This is the first time that a mutation in IRX5 (and the family of IRX genes) has ever been discovered in man. IRX5 is part of a family of transcription factors that is highly conserved in all animals, meaning that this gene is present not only in humans but also in mice, fish, frogs, flies and even worms. Using a frog model, the scientists demonstrated that Irx5 orchestrates cell movements in the developing foetus which underlie head and gonad formation.

4. Carine Bonnard, a final-year PhD student at IMB and the first author of the paper, said, Because Hamamy syndrome causes a wide range of symptoms, not just in newborn babies but also in the adult, this implies that IRX5 is critical for development in the womb as well as for the function of many organs in our adult body. For example, patients with this disease cannot evacuate tears from their eyes, and they will also go on to experience repetitive bone fractures (Annex A) or progressive myopia as they age. This discovery of the causative gene is a significant finding that will catalyze research efforts into the role of the Irx gene family and greatly increase our understanding of human health, such as bone homeostasis, or gamete formation for instance.

5. We believe that this discovery could open up new therapeutic solutions to common diseases like osteoporosis, heart disease, anaemia which affect millions of people worldwide, said Dr Bruno Reversade, Senior Principle Investigator at IMB. The findings also provide a framework for understanding fascinating evolutionary questions, such as why humans of different ethnicities have distinct facial features and how these are embedded in our genome. IRX genes have been repeatedly co-opted during evolution, and small variation in their activity could underlie fine alterations in the way we look, or perhaps even drastic ones such as the traits seen in an elephant, whale, turtle or frog body pattern.

6. Only a handful of people in the world have been identified with Hamamy Syndrome making it a very rare genetic disorder. Rare genetic diseases, usually caused by mutations in a single gene, provide a unique opportunity to better understand more common disease processes. These “natural” experiments are similar to carefully controlled knockout animal experiments in which the function of single genes are analyzed and often give major insights into general health issues.[2]

7. Prof Birgitte Lane, Executive Director of IMB, said, Understanding how various pathways in the human body function is the foundation for developing new therapeutic targets. This is an important piece of research that I believe will be of great interest to many scientists and clinicians around the world because of the clinical and genetic insights it brings to a large range of diseases.

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:: 14, May 2012 :: SCIENTISTS MAKE GROUNDBREAKING DISCOVERY OF MUTATION CAUSING GENETIC DISORDER IN HUMANS

Hamamy syndrome is a rare genetic disorder which is marked by abnormal facial features and defects in the heart, bone, blood and reproductive cells. Its exact cause was unknown until now. The international team, led by scientists at IMB, have pinpointed the genetic mistake to be a mutation in asingle gene called IRX5.

This is the first time that a mutation in IRX5 (and the family of IRX genes) has ever been discovered in man. IRX5 is part of a family of transcription factors that is highly conserved in all animals, meaning that this gene is present not only in humans but also in mice, fish, frogs, flies and even worms. Using a frog model, the scientists demonstrated that Irx5 orchestrates cell movements in the developing foetus which underlie head and gonad formation.

Carine Bonnard, a final-year PhD student at IMB and the first author of the paper, said, “Because Hamamy syndrome causes a wide range of symptoms, not just in newborn babies but also in the adult, this implies that IRX5 is critical for development in the wombas well as for the function of many organs in our adult body. For example, patients with this disease cannot evacuate tears from their eyes, and they will also go on to experience repetitive bone fractures (Annex A) or progressive myopia as they age.This discovery of the causative gene is a significant finding that will catalyze research efforts into the role of the Irx gene family and greatly increase our understanding of human health, such as bone homeostasis, or gamete formation for instance.”

“We believe that this discovery could open up new therapeutic solutions to common diseases like osteoporosis, heart disease, anaemia which affect millions of people worldwide,” said Dr Bruno Reversade, Senior Principle Investigator at IMB. “Thefindings also provide a framework for understanding fascinating evolutionary questions, such as why humans of different ethnicities have distinct facial features and how these are embedded in our genome. IRX genes have been repeatedly co-opted duringevolution, and small variation in their activity could underlie fine alterations in the way we look, or perhaps even drastic ones such as the traits seen in an elephant, whale, turtle or frog body pattern.”

Only a handful of people in the worldhave been identified with Hamamy Syndrome making it a very rare genetic disorder. Rare genetic diseases, usually caused by mutations in a single gene, provide a unique opportunity to better understand more common disease processes. These “natural”experiments are similar to carefully controlled knockout animal experiments in which the function of single genes are analyzed and often give major insights into general health issues.[2]

Prof Birgitte Lane, Executive Director of IMB, said, “Understanding how various pathways in the human body function is the foundation for developing new therapeutic targets. This is an important piece of research that I believe will be of great interest to many scientists and clinicians around the world becauseofthe clinical and genetic insights it brings to a large range of diseases.”

Notes for editor: The research findings described in this news release can be found on Nature Genetics’s website under the title “Mutations in IRX5 impair craniofacialdevelopment and germ cell migration via SDF1″ by Carine Bonnard[1], Anna C Strobl[2], Mohammad Shboul1, Hane Lee[3], Barry Merriman[3], Stanley F Nelson[3], Osama H Ababneh[4], Elif Uz[5],[6], Tulay Guran[7], Hulya Kayserili[8], Hanan Hamamy[9],[10]& Bruno Reversade[1],[11].

[1] Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore

[2] Division of Systems Biology, Medical Research Council National Institute for Medical Research, London,UK

[3] Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA

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Scientists Make Groundbreaking Discovery Of Mutation Causing Genetic Disorder In Humans

Viruses act as tiny piezoelectric generators

Viruses, tiny chunks of protein and nucleic acid, have long plagued mankind and its evolutionary ancestors before it. But thanks to the wonders of modern genetic engineering, researchers believe they have finally been able to instill a beneficial purpose in these deadly pests.

I. From Pest to Power

A team of researchers at Lawrence Berkeley National Laboratory — one of 16 U.S. Department of Energy (DOE) national laboratories — has created a special breed of virus that undergoes self-nanoassembly to form tiny piezoelectric generators — machines which harvest mechanical energy (vibrations or pressure) to directly produce electricity.

The special “bug” is the M13 bacteriophage, a rod-shaped virus that only infects bacteria (such asE. coli bacteria)– not humans.

Faculty researchersSeung-Wuk Lee, Ramamoorthy Ramesh, and Byung Yang Lee selected the virus due to its tendency to self-assemble into nanofilms, given its rod-like shape. The viruses tightly pack “like chopsticks in a box” and are easy to grow by the millions given a small supply of host bacteria.

II. Refining the Virus

But the effect was too weak to be of use. So the researchers spliced a quadruplet of negatively charged amino acids into one of the coat proteins. The results was a larger voltage gradient across the coat. The researchers also tested stacking films of the modifed viruses to see how thick they could layer the viruses in order to get the maximum effect.

When pressure was applied to the film a 400 millivolt, 6 nanoampere current was put off. That’s about a quarter of the voltage of an AAA battery, albeit at a far smaller current. Still it was enough to power a ’1′ to show up on a low-power liquid crystal display.

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Berkeley Trains "Harmless" Viruses to Harvest Human Kinetic Energy

Public release date: 14-May-2012 [ | E-mail | Share ]

Contact: Sophie Mohin smohin@liebertpub.com Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, May 7, 2012The body’s natural inflammatory response is an essential reaction to injury and infection. When acute inflammation escalates out of control, such as in sepsis, it causes nearly 10% of deaths in the U.S. and more than $17 billion in healthcare costs each year. A group of researchers have developed a groundbreaking biohybrid device that can control acute inflammation to prevent sepsis and other related life-threatening complications, as described in an article in the inaugural issue of Disruptive Science and Technology, a new peer-reviewed journal from Mary Ann Liebert, Inc. For a copy of the article “A Biohybrid Device for the Systemic Control of Acute Inflammation,” please contact journalmarketing1@liebertpub.com.

“A device like this has the promise to be the ‘Goldilocks’ of inflammation to be that ‘just right’ modulation of inflammation,” says Yoram Vodovotz, PhD, Department of Surgery, University of Pittsburgh.

This is the first report of a device in essence an auxiliary organ that can reprogram the inflammatory response at the whole-organism level. It represents a foundational concept and design that can accommodate cells genetically modified in an infinite variety of ways and that can be engineered and tailored to meet many different clinical applications.

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About the Journal

Disruptive Science and Technology, a breakthrough, highly innovative, peer-reviewed journal spearheaded by Editor-in-Chief Alan J. Russell, PhD, Highmark Distinguished Professor, Carnegie Mellon University, cultivates, harnesses, and explores how existing paradigms can be changed to improve human health, well-being, and productivity. The Journal provides a multimedia platform and forum for ideas and opportunities, promotes breakthrough science and engineering, facilitates the innovator-market relationship, and accelerates the transition from bench to society. Bold, transparent, and resistant to limitations driven by protection of the science and engineering status quo, Disruptive Science and Technology provides the first destination for those seeking to publish game-changing results that have the capacity to alter the way we live. For complete journal details, please visit the Disruptive Science and Technology website at http://www.disruptivescience.com.

About the Publisher

Mary Ann Liebert, Inc. is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Tissue Engineering, Human Gene Therapy and HGT Methods, and Rejuvenation Research. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry’s most widely read publication worldwide. A complete list of the firm’s 70 journals, newsmagazines, and books is available on the Mary Ann Liebert, Inc. website at http://www.liebertpub.com.

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Cutting-edge device controls acute inflammation

Public release date: 14-May-2012 [ | E-mail | Share ]

Contact: Sophie Mohin smohin@liebertpub.com Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, May 7, 2012 In direct contrast to the increasingly cumbersome and frustrating current model for authoring, editing, reviewing, and publishing scientific literature, Kondziolka et al. have developed an interactive knowledge network, called World Science, that will radically change how scientific knowledge is written, published, and shared. This breakthrough in scientific publishing is featured in an article in the inaugural issue of Disruptive Science and Technology, a peer-reviewed journal published by Mary Ann Liebert, Inc. To request a copy of the article “A Knowledge Network for Authoring, Reviewing, Editing, Searching, and Using Scientific or Other Credible Information,” please contact journalmarketing1@liebertpub.com.

“We believe this new interactive network sets up, for the first time, what we think is the next century of credible information communication across the world,” says Douglas S. Kondziolka, MD, MS, FRCS, Peter J. Jannetta Professor of Neurological Surgery and Radiation Oncology at the University of Pittsburgh & UPMC.

By including multiple elements of knowledge engagement, users, readers, and reviewers can easily examine papers with intuitive and user-friendly tools. On a broader scale, all of the contributors, reviewers, and publishers become part of an integrated knowledge network that focuses on increasing the flow and sharing of scientific information worldwide.

###

About the Journal

Disruptive Science and Technology, a breakthrough, highly innovative, peer-reviewed journal spearheaded by Editor-in-Chief Alan J. Russell, PhD, Highmark Distinguished Professor, Carnegie Mellon University, cultivates, harnesses, and explores how existing paradigms can be changed to improve human health, well-being, and productivity. The Journal provides a multimedia platform and forum for ideas and opportunities, promotes breakthrough science and engineering, facilitates the innovator-market relationship, and accelerates the transition from bench to society. Bold, transparent, and resistant to limitations driven by protection of the science and engineering status quo, Disruptive Science and Technology provides the first destination for those seeking to publish game-changing results that have the capacity to alter the way we live. For complete journal details, please visit the Disruptive Science and Technology website at http://www.disruptivescience.com.

About the Publisher

Mary Ann Liebert, Inc. is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Tissue Engineering, Human Gene Therapy and HGT Methods, and Rejuvenation Research. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry’s most widely read publication worldwide. A complete list of the firm’s 70 journals, newsmagazines, and books is available on the Mary Ann Liebert, Inc. website at www.liebertpub.com.

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Paradigm-shifting publishing format for scientific research

Public release date: 14-May-2012 [ | E-mail | Share ]

Contact: Sophie Mohin smohin@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, May 14, 2012Disruptive Science and Technology, a new groundbreaking, peer-reviewed journal published by Mary Ann Liebert, Inc., publishers, has officially released its inaugural issue. Spearheaded by Alan J. Russell, PhD, Highmark Distinguished Career Professor, Carnegie Mellon University, the Journal presents new and innovative results and thorough syntheses and analyses focused on front-line concepts that will improve the way we live. Papers in the inaugural issue explore new paradigms in scientific publishing, treatments for sepsis, and temperature regulation, as well as advances in vaccine development, microfluidics, and nanodiamonds. The inaugural issue is free on the Disruptive Science and Technology website at http://www.disruptivescience.com.

“Our main focus is to publish world-class papers that challenge the status quo and bring about new innovations and discoveries that will better our lives,” says Dr. Russell. “Disruptive Science and Technology provides a custom-designed forum for the publication of breakthrough science and engineering that has the capacity to dynamically improve our society.”

Offering original articles accompanied by personal video interviews with authors, the Journal provides an up-close-and-personal view into the extraordinary discoveries presented by developing a direct relationship between reader and author. Readers will become participants in a unique multimedia platform that allows for dialog among a community of top academic scientists, corporate innovators, business leaders, and futurists who provide unique and fascinating views on the science and technology that will shape our future. The Disruptive Science and Technology editorial board is comprised of a group of renowned experts and opinion leaders in innovation, science, health, technology, and business. The complete multidisciplinary editorial board can be viewed on the Journal website at http://www.disruptivescience.com.

###

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Tissue Engineering, Rejuvenation Research, and Human Gene Therapy. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry’s most widely read publication worldwide. A complete list of the firm’s 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc. website at http://www.liebertpub.com.

Mary Ann Liebert, Inc. 140 Huguenot St., New Rochelle, NY 10801-5215 Phone: (914) 740-2100 (800) M-LIEBERT Fax: (914) 740-2101 www.liebertpub.com

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New journal on disruptive science and technology launched by Mary Ann Liebert Inc. publishers

The Southern Action on Genetic Engineering (SAGE)-Karnataka, which undertook a jatha to highlight the threat to farmers’ seeds by corporate seed companies, will conclude its awareness campaign by holding a State-level Seed Savers’ convention in Bangalore on May 20 and 21.

The two-day convention, which will be held at the NGO Hall, Cubbon Park, will hold deliberations on the threat to Karnataka’s seed sovereignty and highlight the State’s seed diversity.

Representative of SAGE-Karnataka V. Gayatri told presspersons here on Friday that efforts have been made by corporate seed companies, particularly foreign companies, to gain control over the agricultural practices of the country. By promoting hybrid seeds, these companies want to destroy traditional and indigenous seeds and make farmers dependent on them.

Chief Minister D.V. Sadananda Gowda will inaugurate the convention on May 20. M.K. Ramesh from National Law School of India University will speak on the emerging legal issues related to seeds.

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State's seed diversity is under threat, say activists

Hematoxylin and eosin (H&E) staining of sections of wild-type (top row) and H1 triple-knockout (bottom row) embryoid bodies. After 14 days in rotary suspension culture, the wild-type embryoid bodies showed more differentiated morphologies with cysts forming (black arrows) and the knockout embryoid bodies failed to form cavities (far right). (Credit: Yuhong Fan)

(Phys.org) — New research findings show that embryonic stem cells unable to fully compact the DNA inside them cannot complete their primary task: differentiation into specific cell types that give rise to the various types of tissues and structures in the body.

Researchers from the Georgia Institute of Technology and Emory University found that chromatin compaction is required for proper embryonic stem cell differentiation to occur. Chromatin, which is composed of histone proteins and DNA, packages DNA into a smaller volume so that it fits inside a cell.

A study published on May 10, 2012 in the journal PLoS Genetics found that embryonic stem cells lacking several histone H1 subtypes and exhibiting reduced chromatin compaction suffered from impaired differentiation under multiple scenarios and demonstrated inefficiency in silencing genes that must be suppressed to induce differentiation.

While researchers have observed that embryonic stem cells exhibit a relaxed, open chromatin structure and differentiated cells exhibit a compact chromatin structure, our study is the first to show that this compaction is not a mere consequence of the differentiation process but is instead a necessity for differentiation to proceed normally, said Yuhong Fan, an assistant professor in the Georgia Tech School of Biology.

Fan and Todd McDevitt, an associate professor in the Wallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory University, led the study with assistance from Georgia Tech graduate students Yunzhe Zhang and Kaixiang Cao, research technician Marissa Cooke, and postdoctoral fellow Shiraj Panjwani.

The work was supported by the National Institutes of Healths National Institute of General Medical Sciences (NIGMS), the National Science Foundation, a Georgia Cancer Coalition Distinguished Scholar Award, and a Johnson & Johnson/Georgia Tech Healthcare Innovation Award.

Enlarge

Phase contrast images showing that H1 triple-knockout (bottom) embryonic stem cells were unable to adequately form neurites and neural networks compared to wild-type embryonic stem cells (top). (Click image for high-resolution version. Credit: Yuhong Fan)

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Genetic packing: Successful stem cell differentiation requires DNA compaction, study finds

With some clever genetic engineering but without ever touching a cell or an animal, scientist can remotely control cells using ultrasound, light,and, now, also radio waves. The electromagnetic waves can be used to selectivelyheat up parts of cells and activate a gene to make insulin in mice, according to a recent study published in Science.

But why care about radio waves if we have light and ultrasound?Radio waves have a couple distinct advantages over existing techniques.

In the current study, the radio waves didnt heat up a whole patch of tissue or even a whole cellit only affected specific pores in the cell, calledTRPV1,that open in response to heat. To get this specificity, the scientists made special iron oxide nanoparticles attached to an antibody that only sticks to TRPV1. When they turned on the radio waves, the iron oxide particles warmed up and opened the TRPV1 channel, minimally affecting the rest of the cell or surrounding cells.Ultrasound, on the other hand, heats up a whole patch of tissue to 42 Celsius, which could have damaging or confounding effects on the cells.

Radio waves, unlike light, can also penetrate deep into tissue. To show how the radio could safely work inside an animal, scientists injected mice with special cells that had been genetically engineered to include both the TRPV1 pore and a gene switch that would release insulin when exposed to calcium. Then they got those cells in the mice to start making insulin with a little Rube Goldberg-esque cellular machine: heat from the radio waves opened the TRPV1 channels, calcium rushed into the cells through the open TRPV1, the flood of calcium turned on the insulin gene switch, and, finally, the cells began making insulin. (The whole chain of events makes you appreciate the complexity of biology, right?)

In one last step, the scientists did away with the synthetic iron oxide nanoparticles altogther. They got cells to produce their own iron nanoparticles, a iron storage protein calledferritin. When they tested ferritin in cells, it was 2/3 as effective at inducing insulin production as the synthetic nanoparticles.

There could be medical applications for activating genes in stem cell therapy in the future, but for now, this is just pretty cool: scientists can turn on some radio waves and hack right into the cellular machinery of a mouse.

[via Nature News]

Mouse image via Shutterstock / lculig

Excerpt from:
Now *This* Is a Cell Phone: Using Radio Waves to Control Specific Genes in Mice | 80beats

The Californian Right to Know campaign in support of labeling foods and ingredients produced using genetic engineering looks set for inclusion in the states November ballot, after it attracted nearly a million signatures. If enacted, what would the proposed law mean for food manufacturers?

The state has up to seven weeks to validate the 971,126 signatures. If they are validated, and voters approve the measure in November, food manufacturers could be required to label genetically modified (GM) foods and ingredients sold in California from July 1, 2014.

The California Right to Know Genetically Engineered Food Act would require such foods to be labeled in a clear and conspicuous manner, whether raw agricultural commodities or processed foods.

The bill reads that a food would deemed to be misbranded unless labeled: In the case of any processed food, in clear and conspicuous language on the front or back of the package of such food, with the words Partially Produced with Genetic Engineering or May be Partially Produced with Genetic Engineering

GMOs deemed unnatural

In addition, food labeled as natural would be deemed misbranded under the legislation if it contained genetically modified ingredients, in line with the precept of a swathe of lawsuits that have been brought against food companies in California. Currently the US Food and Drug Administration has no definition of the word natural.

The proposed legislation contains a number of exceptions, including allowances for unintentional presence of GM ingredients, and meat or milk from animals that may have eaten feed produced using genetic engineering. These would be exempt from labeling under the proposal, as is the case in European law.

Until July 2019, food products would also be exempt from labeling if a GM ingredient accounts for less than 0.5% of the foods total weight, and foods could contain up to ten such ingredients.

Industry opposition

Several major industry organizations and trade groups have set up a campaign opposing the proposition, including the California Retailers Association, Grocery Manufacturers Association, American Beverage Association, and California League of Food Processors, among others . Calling the coalition Californians Against the Costly Food Labeling Proposition, they claim that labeling GM foods and ingredients could increase food prices and mislead consumers into thinking their foods are unsafe.

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Californian GMO labeling: What would it mean for food companies?

ScienceDaily (May 7, 2012) The cells that slough off from a cancerous tumor into the bloodstream are a genetically diverse bunch, Stanford University School of Medicine researchers have found. Some have genes turned on that give them the potential to lodge themselves in new places, helping a cancer spread between organs. Others have completely different patterns of gene expression and might be more benign, or less likely to survive in a new tissue. Some cells may even express genes that could predict their response to a specific therapy. Even within one patient, the tumor cells that make it into circulating blood vary drastically.

The finding underscores how multiple types of treatment may be required to cure what appears outwardly as a single type of cancer, the researchers say. And it hints that the current cell-line models of human cancers, which showed patterns that differed from the tumor cells shed from human patients, need to be improved upon.

The new study, published May 7 in PLoS ONE, is the first to look at so-called circulating tumor cells one by one, rather than taking the average of many of the cells. And it’s the first to show the extent of the genetic differences between such cells.

“Within a single blood draw from a single patient, we’re seeing heterogeneous populations of circulating tumor cells,” said senior study author Stefanie Jeffrey, MD, professor of surgery and chief of surgical oncology research.

For over a century, scientists have known that circulating tumor cells, or CTCs, are shed from tumors and move through the bloodstreams of cancer patients. And over the past five years, there’s been a growing sense among many cancer researchers that these cells — accessible by a quick blood draw — could be the key to tracking tumors non-invasively. But separating CTCs from blood cells is hard; there can be as few as one or two CTCs in every milliliter of a person’s blood, mixed among billions of other blood cells.

To make their latest discovery, Jeffrey, along with an interdisciplinary team of engineers, quantitative biologists, genome scientists and clinicians, relied on a technology they developed in 2008. Called the MagSweeper, it’s a device that lets them isolate live CTCs with very high purity from patient blood samples, based on the presence of a particular protein — EpCAM — that’s on the surface of cancer cells but not healthy blood cells.

With the goal of studying CTCs from breast cancer patients, the team first tested whether they could accurately detect the expression levels of 95 different genes in single cells from seven different cell-line models of breast cancer — a proof of principle since they already knew the genetics of these tumors. These included four cell lines generally used by breast cancer researchers and pharmaceutical scientists worldwide and three cell lines specially generated from patients’ primary tumors.

“Most researchers look at just a few genes or proteins at a time in CTCs, usually by adding fluorescent antibodies to their samples consisting of many cells,” said Jeffrey. “We wanted to measure the expression of 95 genes at once and didn’t want to pool our cells together, so that we could detect differences between individual tumor cells.”

So once Jeffrey and her collaborators isolated CTCs using the MagSweeper, they turned to a different kind of technology: real-time PCR microfluidic chips, invented by a Stanford collaborator, Stephen Quake, PhD, professor of bioengineering. They purified genetic material from each CTC and used the high-throughput technology to measure the levels of all 95 genes at once. The results on the cell-line-derived cells were a success; the genes in the CTCs reflected the known properties of the cell-line models. So the team moved on to testing the 95 genes in CTCs from 50 human breast cancer patients — 30 with cancer that had spread to other organs, 20 with only primary breast tumors.

“In the patients, we ended up with a subset of 31 genes that were most dominantly expressed,” said Jeffrey. “And by looking at levels of those genes, we could see at least two distinct groups of circulating tumors cells.” Depending on which genes they used to divide the CTCs into groups, there were as many as five groups, she said, each with different combinations of genes turned on and off. And if they’d chosen genes other than the 95 they’d picked, they likely would have seen different patterns of grouping. However, because the same individual CTCs tended to group together in multiple different analyses, these cells likely represent different types of spreading cancer cells.

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Not all tumor cells are equal: Huge genetic diversity found in cells shed by tumors

Devangshu Datta: Towards an HIV cure Advances in genetic engineering techniques may finally help us win the battle against this global scourge Devangshu Datta / New Delhi May 04, 2012, 00:53 IST

Since AIDS, or acquired immune deficiency syndrome, was identified in 1981, there has been only one medically-certified cure. That occurred under unusual circumstances and it gave researchers an important clue about new ways to attack the disease. Recent advances in genetic engineering techniques have aided in this process. Some studies offer new hope of a cure for the 35 million estimated to be infected worldwide.

No disease inspires as much superstitious dread. So far, AIDS is estimated to have killed over 30 million people and it infects millions every year. It is especially prevalent in Sub-Saharan Africa.

HIV is transmitted through the exchange of body fluids. Common causes of infection (not necessarily in order) include unprotected sex, blood transfusions, sharing needles and so on. The associations with promiscuity and drug addiction make it hard to implement policies to stop HIV-spread. What works best is a combination of sex education and drug awareness programmes, coupled with easy availability of condoms and disposable needles. But in conservative societies like India, people object to sex education. Some religions also discourage the use of condoms.

Someone infected with HIV (HIV-positive) may survive years, without symptoms. The virus attacks a class of white blood cells called CD4 T-cells. It inserts itself into the cell and replicates. T-cells are part of the natural immune system. Once AIDS develops owing to HIV taking over T-cells, the immune system shuts down. Most AIDS patients die of cancer, pneumonia, or some other infection.

The new approaches involve inserting immune genes into HIV-positive patients, through genetic engineering of stem cells. Every researcher is cautious about claims of cures. The characteristic long symptom-less periods and HIVs ability to hide can be cruelly deceptive. HIV-positive people are also vulnerable to quacks. Many charlatans, including a cross-dresser who teaches yoga on Indian television, have claimed at various times to have found AIDS cures.

Some people have natural genetic immunity for various reasons. Advances in understanding of genomes have helped identify some of the causes of immunity. Researchers have known for a while that a mutated gene called CCR5 Delta 32 offers natural immunity to HIV.

The mutation is rare and found only in a few northern Europeans. The normal CCR5 gene, which most people possess, is the receptor HIV uses to enter T-cells. HIV cannot use the Delta-32 mutated gene and, hence, cannot replicate in a host who has two copies of the CCR5 Delta 32 gene (one inherited from each parent). Even one copy of Delta 32 seems to offer some protection. Only about one per cent of northern Europeans possess both copies.

In 2007, Timothy Ray Brown, an American resident in Berlin, was HIV-positive and also under treatment for leukaemia. Leukaemia causes an abnormal increase in white blood cells and a drop in red cells. Blood cells are produced by bone marrow. One drastic treatment is a bone marrow stem cell transplant from a healthy person. This helps regenerate healthy blood with a good haemoglobin ratio, and a new immune system. Its dangerous since the patients entire immune system must be destroyed prior to the transplant.

Browns doctors at the Charite University Medicine Berlin, Kristina Allers and Gero Hutter, found a compatible donor who belonged to that rare one per cent with the Delta-32 mutation. Five years later, after the transplant procedures, the Berlin Patient, as Brown is called in medical journals, is still HIV-free and doctors concur that this is a functional cure.

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Devangshu Datta: Towards an HIV cure

A team of researchers from Johns Hopkins University and the National Human Genome Research Institute has evaluated the whole genomic sequence of stem cells derived from human bone marrow cellsso-called induced pluripotent stem (iPS) cellsand found that relatively few genetic changes occur during stem cell conversion by an improved method. The findings, reported in the March issue of Cell Stem Cell, the official journal of the International Society for Stem Cell Research (ISSCR), will be presented at the annual ISSCR meeting in June.

“Our results show that human iPS cells accrue genetic changes at about the same rate as any replicating cells, which we don’t feel is a cause for concern,” says Linzhao Cheng, Ph.D., a professor of medicine and oncology, and a member of the Johns Hopkins Institute for Cell Engineering.

Each time a cell divides, it has the chance to make errors and incorporate new genetic changes in its DNA, Cheng explains. Some genetic changes can be harmless, but others can lead to changes in cell behavior that may lead to disease and, in the worst case, to cancer.

In the new study, the researchers showed that iPS cells derived from adult bone marrow cells contain random genetic changes that do not specifically predispose the cells to form cancer.

“Little research was done previously to determine the number of DNA changes in stem cells, but because whole genome sequencing is getting faster and cheaper, we can now more easily assess the genetic stability of these cells derived by various methods and from different tissues,” Cheng says. Last year, a study published in Nature suggested higher than expected cancer gene mutation rates in iPS cells created from skin samples, which, according to Cheng, raised great concerns to many in the field pertaining to usefulness and safety of the cells. This study analyzed both viral and the improved, nonviral methods to turn on stem cell genes making the iPS cells

To more thoroughly evaluate the number of genetic changes in iPS cells created by the improved, non-viral method, Cheng’s team first converted human blood-forming cells or their support cells, so-called marrow stromal cells (MSCs) in adult bone marrow into iPS cells by turning on specific genes and giving them special nutrients. The researchers isolated DNA from–and sequenced–the genome of each type of iPS cells, in comparison with the original cells from which the iPS cells were derived.

Cheng says they then counted the number of small DNA differences in each cell line compared to the original bone marrow cells. A range of 1,000 to 1,800 changes in the nucleic acid “letters” A, C, T and G occurred across each genome, but only a few changes were found in actual genes–DNA sequences that act as blueprints for our body’s proteins. Such genes make up two percent of the genome.

The blood-derived iPS cells contained six and the MSC-derived iPS cells contained 12 DNA letter changes in genes, which led the researchers to conclude that DNA changes in iPS cells are far more likely to occur in the spaces between genes, not in the genes themselves.

Read the original:
Human iPS cells accrue genetic changes at about the same rate as replicating cells

Public release date: 1-May-2012 [ | E-mail | Share ]

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

New Rochelle, NY, May 1, 2012Passage of the America Invents Act into law led to the most dramatic changes in the U.S. patent system in 60 years. These reforms will have a significant impact on technology innovators such as biotechnology-based businesses, as detailed in two articles in Industrial Biotechnology, a peer-reviewed journal from Mary Ann Liebert, Inc. The articles are available free online on the Industrial Biotechnology website.

“Industrial biotechnology companies rely heavily on their patents to attract investment to fund the research and development necessary to bring innovative products to consumers. Strong intellectual property protection is critical for these companies,” says Brent Erickson, Consulting Editor of Industrial Biotechnology and Executive Vice President, Industrial & Environmental Section, Biotechnology Industry Organization (BIO), Washington, DC. “The Leahy-Smith America Invents Act will strengthen America’s patent system and drive job growth throughout our economy. The improvements made by the bill will benefit all sectors of the national economy by enhancing patent quality and the efficiency, objectivity, predictability and transparency of the U.S. patent system. Companies will benefit from the improvements to our nation’s patent system made by this legislation.”

One of the most critical and far-reaching features of the America Invents Act (AIA) that will affect all U.S. patent applications filed on or after March 16, 2013 is the change from a “first-to-invent” to a “first-inventor-to-file” system. Technology specialists Tiffany Reiter, PhD and Erin Baker, PhD, and principal patent attorney J. Peter Fasse, Fish & Richardson (Boston, MA), provide a comprehensive review of the new system, describing its implications and exceptions. The authors clearly illustrate how pending and future patent applications will be affected by the new law in the article “The America Invents Act and Its Importance to Patent Prosecution in the Biotech Sector.”

Sandra Thompson, JD, PhD, a specialist in intellectual property law at Buchalter Nemer (Irvine, CA), clarifies some common misunderstandings related to the new first-to-file system as well as other aspects of the AIA. In the article “The America Invents Act and Your Biotech-Based Business,” Dr. Thompson explains which aspects of the AIA went into effect immediately and which will be put into practice gradually over an 18-month period, and why this knowledge is crucial for companies developing novel products and technologies.

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About the Journal

Industrial Biotechnology, led by Co-Editors-in-Chief Larry Walker, PhD, and Glenn Nedwin, PhD, MBA, is an authoritative journal focused on biobased industrial and environmental products and processes, published bimonthly in print and online. The Journal reports on the science, business, and policy developments of the emerging global bioeconomy, including biobased production of energy and fuels, chemicals, materials, and consumer goods. The articles published include critically reviewed original research in all related sciences (biology, biochemistry, chemical and process engineering, agriculture), in addition to expert commentary on current policy, funding, markets, business, legal issues, and science trends. Industrial Biotechnology offers the premier forum bridging basic research and R&D with later-stage commercialization for sustainable biobased industrial and environmental applications.

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How will the US biotechnology industry benefit from new patent laws?

Public release date: 1-May-2012 [ | E-mail | Share ]

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

New Rochelle, NY, May 1, 2012Herbal, dietary, and energy or nutritional supplements may offer specific health benefits, but they can also have harmful and even life-threatening effects when combined with commonly used medications. Clinicians need to be aware of and educate their patients about the potential risks of mixing supplements and therapeutic agents, since their interaction can diminish or increase drug levels. This timely topic is explored in a provocative article in Alternative and Complementary Therapies, published by Mary Ann Liebert, Inc. The article is available free on the Alternative and Complementary Therapies website at www.liebertpub.com/act.

“‘Natural’ does not equal ‘safe,’” and the effects and interactions of herbal or dietary supplements and functional foods such as energy drinks or nutritional bars can be difficult to predict, says Catherine Ulbricht, PharmD, co-founder of Natural Standard Research Collaboration and Senior Attending Pharmacist at Massachusetts General Hospital (Boston, MA). “If something has a therapeutic action in a human body, this substance can also cause a reaction or an interaction.”

The risk for interactions is greatest in younger and older people and in individuals with multiple health conditions or who take multiple medications, explains Dr. Ulbricht in the article “What Every Clinician Should Know About HerbSupplementDrug Interactions.” She describes in detail some of the most common side effects that result from interactions between herbal supplements and therapeutic drugs, and provides guidance to clinicians on how to decrease the risk of harmful interactions in their patients and what resources are available for obtaining accurate information and reporting patient reactions.

Common examples include an increased risk of significant bleeding associated with garlic, ginkgo, ginger, and saw palmetto supplements; decreased blood sugar as a result of chromium, cinnamon, whey protein, and others; hormonal effects of dong quai, black cohosh, kudzu, and saw palmetto; and elevated blood pressure caused by bloodroot, green tea, hawthorn, and mat.

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About the Journal

Alternative and Complementary Therapies is a bimonthly journal that publishes original articles, reviews, and commentaries evaluating alternative therapies and how they can be integrated into clinical practice. Topics include botanical medicine, vitamins and supplements, nutrition and diet, mind-body medicine, acupuncture and traditional Chinese medicine, ayurveda, indigenous medicine systems, homeopathy, naturopathy, yoga and meditation, manual therapies, energy medicine, and spirituality and health. Complete tables of content and a sample issue may be viewed on the Alternative and Complementary Therapies website at www.liebertpub.com/act.

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Risks of mixing drugs and herbal supplements: What doctors and patients need to know

Public release date: 30-Apr-2012 [ | E-mail | Share ]

Contact: Vanessa McMains vmcmain1@jhmi.edu 410-502-9410 Johns Hopkins Medical Institutions

A team of researchers from Johns Hopkins University and the National Human Genome Research Institute has evaluated the whole genomic sequence of stem cells derived from human bone marrow cellsso-called induced pluripotent stem (iPS) cellsand found that relatively few genetic changes occur during stem cell conversion by an improved method. The findings, reported in the March issue of Cell Stem Cell, the official journal of the International Society for Stem Cell Research (ISSCR), will be presented at the annual ISSCR meeting in June.

“Our results show that human iPS cells accrue genetic changes at about the same rate as any replicating cells, which we don’t feel is a cause for concern,” says Linzhao Cheng, Ph.D., a professor of medicine and oncology, and a member of the Johns Hopkins Institute for Cell Engineering.

Each time a cell divides, it has the chance to make errors and incorporate new genetic changes in its DNA, Cheng explains. Some genetic changes can be harmless, but others can lead to changes in cell behavior that may lead to disease and, in the worst case, to cancer.

In the new study, the researchers showed that iPS cells derived from adult bone marrow cells contain random genetic changes that do not specifically predispose the cells to form cancer.

“Little research was done previously to determine the number of DNA changes in stem cells, but because whole genome sequencing is getting faster and cheaper, we can now more easily assess the genetic stability of these cells derived by various methods and from different tissues,” Cheng says. Last year, a study published in Nature suggested higher than expected cancer gene mutation rates in iPS cells created from skin samples, which, according to Cheng, raised great concerns to many in the field pertaining to usefulness and safety of the cells. This study analyzed both viral and the improved, nonviral methods to turn on stem cell genes making the iPS cells

To more thoroughly evaluate the number of genetic changes in iPS cells created by the improved, non-viral method, Cheng’s team first converted human blood-forming cells or their support cells, so-called marrow stromal cells (MSCs) in adult bone marrow into iPS cells by turning on specific genes and giving them special nutrients. The researchers isolated DNA from–and sequenced–the genome of each type of iPS cells, in comparison with the original cells from which the iPS cells were derived.

Cheng says they then counted the number of small DNA differences in each cell line compared to the original bone marrow cells. A range of 1,000 to 1,800 changes in the nucleic acid “letters” A, C, T and G occurred across each genome, but only a few changes were found in actual genes–DNA sequences that act as blueprints for our body’s proteins. Such genes make up two percent of the genome.

The blood-derived iPS cells contained six and the MSC-derived iPS cells contained 12 DNA letter changes in genes, which led the researchers to conclude that DNA changes in iPS cells are far more likely to occur in the spaces between genes, not in the genes themselves.

Read more:
Improved adult-derived human stem cells have fewer genetic changes than expected

The Obama administration is to unveil its National Bioeconomy Blueprint plan today, reports The New York Times. “The growth of today’s US bioeconomy is due in large part to the development of three foundational technologies: genetic engineering, DNA sequencing, and automated high-throughput manipulations of biomolecules,” the report notes, adding that “tomorrow’s bioeconomy relies on the expansion of emerging technologies such as synthetic biology (the direct engineering of microbes and plants), proteomics (the large-scale study and manipulation of proteins in an organism), and bioinformatics (computational tools for expanding the use of biological and related data), as well as new technologies as yet unimagined.” The report adds that such technologies appear to be moving toward advances in health, bioenergy, biomanufacturing, and environmental clean-up.

The report includes five strategies, including some to support research and development, and to encourage translating basic findings into commercial applications. In addition, the plan calls for improving training and promoting collaborations between the public and private sectors. Finally, the plan calls for regulation reform namely to speed up regulatory processes and make them more predictable.

“This may be the first time the country has recognized the total impact that biological sciences has for the current and future economy,” MIT’s Phillip Sharp tells the Times.

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Bioeconomy Plans

All of the nine classrooms in the science wing at Ossining High School were abuzz last week, with students learning about biodiversity, electromagnetic waves and the solubility curves of potassium nitrate.

In the Regents Living Environment class, students had their heads down as they took a unit test on genetic engineering. Down the hall, the handful of teens in the schools Fundamentals of Science Research program were busy collecting data on their various projects.

Senior Francis Russell, 17, is working on neuro-protection in a stroke event, or rather the buildup of cell tolerance against major strokes through smaller ischemic constriction or obstruction of the blood vessels events. Russell worked with a mentor at New York Medical College.

My grandfather had a stroke so I built up a personal relationship through that, she said.

The complicated topics are commonplace in the rigorous, three-year program that was formed in 1998 by science teacher Angelo Piccirillo. Each year, students from that elective course are selected to attend Intel competitions, including its Science Talent Search and the International Science and Engineering Fair.

This year was no different as seven students head to ISEF in May.

But along with these accolades, Ossining High School received another distinction last week from the prestigious organization when it was named a finalist in Intels 2012 Schools of Distinction Awards. The honor recognizes the high schools entire science department.

I think its outstanding for the school and the district, Piccirillo said. Its a great reflection of our communitys dedication to education.

Ossining High was among 18 finalists and one of only three high schools in the country to be named in the science category. The other two were Boston Latin School in Boston and Gatton Academy in Bowling Green, Ky.

Most of the focus it seems is on science-based schools so this is really a huge honor, science research teacher Valerie Holmes said.

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Ossining H.S. a finalist for Intel Schools of Distinction Awards

Public release date: 18-Apr-2012 [ | E-mail | Share ]

Contact: Michael Bernstein m_bernstein@acs.org 202-872-6042 American Chemical Society

Scientific insights that expand on the teachings of Mendel, Watson and Crick, and underpinnings of the Human Genome Project are moving drug companies along the path to development of new medicines based on deeper insights into how factors other than the genetic code influence health and disease. That’s the topic of the cover story in the current edition of Chemical & Engineering News (C&EN), the weekly newsmagazine of the American Chemical Society (ACS), the world’s largest scientific society.

The article, by C&EN Senior Editor Lisa M. Jarvis, focuses on the quiet revolution in epigenetics that has been sweeping through biology, chemistry and other scientific fields for the last several years. It explains how scientists initially believed that cracking the genetic code, achieved a decade ago, would lay out a straight path for inventing new medicines: Identify the genetic mutation behind a disease and then find a drug that overcomes it. But scientists now know that another layer of biochemical controls, an epigenetics layer, influences how and when genes work in health and disease without changing DNA itself. Early epigenetics research already produced four drugs currently approved to treat blood cancer. But these treatments lack selectivity, limiting their effectiveness.

Now, Jarvis explains, companies like GlaxoSmithKline, Epizyme and Constellation Pharmaceuticals are moving ahead to develop the next generation of epigenetic drugs, particularly for cancer. Armed with a better understanding of how specific epigenetic enzymes are implicated in disease, they are designing compounds to block the activity of those enzymes. The article describes GSK’s announcement earlier this month of an epigenetic inhibitor it has developed that might fight lymphoma. “Although no one will know the value of the new epigenetic compounds until they are tested in humans, scientists are confident that the field is moving forward with the right balance of caution and enthusiasm,” Jarvis concludes.

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The American Chemical Society is a nonprofit organization chartered by the U.S. Congress. With more than 164,000 members, ACS is the world’s largest scientific society and a global leader in providing access to chemistry-related research through its multiple databases, peer-reviewed journals and scientific conferences. Its main offices are in Washington, D.C., and Columbus, Ohio.

To automatically receive news releases from the American Chemical Society contact newsroom@acs.org.

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Read more from the original source:
Not by DNA alone: How the epigenetics revolution is fostering new medicines

Published on April 19, 2012 at 3:18 AM

Scientific insights that expand on the teachings of Mendel, Watson and Crick, and underpinnings of the Human Genome Project are moving drug companies along the path to development of new medicines based on deeper insights into how factors other than the genetic code influence health and disease. That’s the topic of the cover story in the current edition of Chemical & Engineering News (C&EN), the weekly newsmagazine of the American Chemical Society (ACS), the world’s largest scientific society.

The article, by C&EN Senior Editor Lisa M. Jarvis, focuses on the quiet revolution – in epigenetics – that has been sweeping through biology, chemistry and other scientific fields for the last several years. It explains how scientists initially believed that cracking the genetic code, achieved a decade ago, would lay out a straight path for inventing new medicines: Identify the genetic mutation behind a disease and then find a drug that overcomes it. But scientists now know that another layer of biochemical controls, an epigenetics layer, influences how and when genes work in health and disease without changing DNA itself. Early epigenetics research already produced four drugs currently approved to treat blood cancer. But these treatments lack selectivity, limiting their effectiveness.

Now, Jarvis explains, companies like GlaxoSmithKline, Epizyme and Constellation Pharmaceuticals are moving ahead to develop the next generation of epigenetic drugs, particularly for cancer. Armed with a better understanding of how specific epigenetic enzymes are implicated in disease, they are designing compounds to block the activity of those enzymes. The article describes GSK’s announcement earlier this month of an epigenetic inhibitor it has developed that might fight lymphoma. “Although no one will know the value of the new epigenetic compounds until they are tested in humans, scientists are confident that the field is moving forward with the right balance of caution and enthusiasm,” Jarvis concludes.

Source: American Chemical Society

See more here:
GSK, Epizyme and Constellation to develop next generation of epigenetic drugs for cancer