Archive for the ‘Gene Therapy Research’ Category

03-07-2012 01:43 Panel "Biotechnology and Gene Manipulation: is R&D worth the price?" at Latitude59 conference. Moderator Stephan Gutzeit, participants Toomas Neuman, Mart Ustav & Claes Post.

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Biotechnology and Gene Manipulation: is R

03-07-2012 11:20 By studying both rats and humans, a team of biologists from Montreal, Canada and Singapore has uncovered a link between abuse and neglect in early life and epigenetic changes in how the brain regulates stress. Translated literally, "epigenetic" means "on top of genetics." Epigenetic changes do not alter the code of an individual's DNA, but rather add a molecule to the surface of the code. Such modifications affect the way in which the DNA's instructions are carried out in the body. In this study, the researchers found that victims of abuse and neglect during childhood had epigenetic modifications on a stress-regulating gene that acts in the brain. The modifications left these subjects less able to quiet their body's natural reactions to stressful situations. The finding helps clarify the physical and mental impacts of childhood trauma and could pave the way for new mental health treatments. The research was published in the journal Nature Neuroscience.

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Science Bulletins: Abuse Lingers in the Genes and Brain - Video

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/83jgv7/gene_expression_pr) has announced the addition of the "Gene Expression Profiling Life Science Dashboard Series 4" report to their offering.

Gene expression profiling methods enable the quantification of multiple transcripts from a single RNA sample. Powerful and continually evolving methods, such as short-read sequencing (RNA-seq), microarray analysis, quantitative real-time RT-PCR, as well as traditional methods for differential gene expression studies using multiplex endpoint PCR and northern blot analysis are employed by scientists to analyze gene function, identify new therapeutic and diagnostic targets, and to map pathways involved in development and disease.

Percepta's 2012 Gene Expression Profiling Dashboard is the fourth in a series that characterizes the dynamic market for products for profiling gene expression. This 2012 Dashboard provides a snapshot of the current market landscape that is compared with data from the 2010 and 2008 Gene Expression Profiling Dashboards, providing an ongoing story of how the market is adapting to new products, new competitors and new sales and marketing strategies.

The 2012 Gene Expression Profiling Dashboard was developed from responses to a 21-question survey completed by 460 scientists predominantly located in North America and Europe. These respondents perform gene expression profiling methods on a regular basis. This dashboard reveals key market indicators for the gene expression profiling market as a whole as well as for the following methods representing market sub-segments:

- Differential gene expression studies using multiplex endpoint PCR

- Digital gene expression/molecular barcodes

- Microarray-based gene expression studies (including bead arrays)

- qRT-PCR (cDNA template) using gene specific fluorescent probe

- qRT-PCR (cDNA template) using non-specific SYBR Green

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Research and Markets: Gene Expression Profiling Life Science Dashboard Series 4

Public release date: 3-Jul-2012 [ | E-mail | Share ]

Contact: Evan Lerner elerner@upenn.edu 215-573-6604 University of Pennsylvania

PHILADELPHIA Finding biocompatible carriers that can get drugs to their targets in the body involves significant challenges. Beyond practical concerns of manufacturing and loading these vehicles, the carriers must work effectively with the drug and be safe to consume. Vesicles, hollow capsules shaped like double-walled bubbles, are ideal candidates, as the body naturally produces similar structures to move chemicals from one place to another. Finding the right molecules to assemble into capsules, however, remains difficult.

Researchers from the University of Pennsylvania have now shown a new approach for making vesicles and fine-tuning their shapes. By starting with a protein that is found in sunflower seeds, they used genetic engineering to make a variety of protein molecules that assemble into vesicles and other useful structures.

Daniel A. Hammer, Alfred G. and Meta A. Ennis Professor of Bioengineering, graduate student Kevin Vargo and research scientist Ranganath Parthasarathy of the Department of Chemical and Biomolecular Engineering in Penn's School of Engineering and Applied Science conducted the research.

Their work was published in the Proceedings of the National Academy of Sciences.

"To our knowledge, this is the first time a vesicle has been made from a recombinant protein," Hammer said.

Recombinant proteins are the products of a well-established technique that involves introducing a designed gene sequence into a host organism in most cases, the bacterium E. coli in order to get that organism to make a protein it would not normally produce.

Hammer's group worked for nearly a decade to find a protein that was biocompatible, could be produced through recombinant methods and, most important, could be induced to form vesicles.

"The molecule we identified is called oleosin," Hammer said. "It's a surfactant protein found in sunflower and sesame seeds."

Excerpt from:
Penn engineers convert a natural plant protein into drug-delivery vehicles

The gene for oleosin, a protein from a plant, was inserted into a vector and expressed in bacteria. Many different variants were made by recombinant methods. The purified proteins were assembled in structures, including vesicles, a capsule that can carry a large payload of drugs. This is the first demonstration of vesicles being made from a recombinant protein. Credit: University of Pennsylvania

(Phys.org) -- Finding biocompatible carriers that can get drugs to their targets in the body involves significant challenges. Beyond practical concerns of manufacturing and loading these vehicles, the carriers must work effectively with the drug and be safe to consume. Vesicles, hollow capsules shaped like double-walled bubbles, are ideal candidates, as the body naturally produces similar structures to move chemicals from one place to another. Finding the right molecules to assemble into capsules, however, remains difficult.

Researchers from the University of Pennsylvania have now shown a new approach for making vesicles and fine-tuning their shapes. By starting with a protein that is found in sunflower seeds, they used genetic engineering to make a variety of protein molecules that assemble into vesicles and other useful structures.

Daniel A. Hammer, Alfred G. and Meta A. Ennis Professor of Bioengineering, graduate student Kevin Vargo and research scientist Ranganath Parthasarathy of the Department of Chemical and Biomolecular Engineering in Penns School of Engineering and Applied Science conducted the research.

Their work was published in the Proceedings of the National Academy of Sciences.

To our knowledge, this is the first time a vesicle has been made from a recombinant protein, Hammer said.

Recombinant proteins are the products of a well-established technique that involves introducing a designed gene sequence into a host organism in most cases, the bacterium E. coli in order to get that organism to make a protein it would not normally produce.

Hammers group worked for nearly a decade to find a protein that was biocompatible, could be produced through recombinant methods and, most important, could be induced to form vesicles.

The molecule we identified is called oleosin, Hammer said. Its a surfactant protein found in sunflower and sesame seeds.

Surfactants are soap-like chemicals that have two distinct sides; one side is attracted to water and the other is repelled by it. They can make many structures in solution but making vesicles is rare. Most often, surfactants make micelles, in which a single layer of molecules aggregates with the water-loving part on the outside and the water-hating part on the inside. Micelles have a limited ability to carry drugs. Vesicles, in contrast, have two walls aligned so the two water-hating sides face each other. The water-loving interior cavity allows the transport of a large payload of water-soluble molecules that are suspended in water. Since many drugs are water soluble, vesicles offer significant advantages for drug delivery.

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Engineers convert a natural plant protein into drug-delivery vehicles

ScienceDaily (July 3, 2012) Finding biocompatible carriers that can get drugs to their targets in the body involves significant challenges. Beyond practical concerns of manufacturing and loading these vehicles, the carriers must work effectively with the drug and be safe to consume. Vesicles, hollow capsules shaped like double-walled bubbles, are ideal candidates, as the body naturally produces similar structures to move chemicals from one place to another. Finding the right molecules to assemble into capsules, however, remains difficult.

Researchers from the University of Pennsylvania have now shown a new approach for making vesicles and fine-tuning their shapes. By starting with a protein that is found in sunflower seeds, they used genetic engineering to make a variety of protein molecules that assemble into vesicles and other useful structures.

Daniel A. Hammer, Alfred G. and Meta A. Ennis Professor of Bioengineering, graduate student Kevin Vargo and research scientist Ranganath Parthasarathy of the Department of Chemical and Biomolecular Engineering in Penn's School of Engineering and Applied Science conducted the research.

Their work was published in the Proceedings of the National Academy of Sciences.

"To our knowledge, this is the first time a vesicle has been made from a recombinant protein," Hammer said.

Recombinant proteins are the products of a well-established technique that involves introducing a designed gene sequence into a host organism -- in most cases, the bacterium E. coli -- in order to get that organism to make a protein it would not normally produce.

Hammer's group worked for nearly a decade to find a protein that was biocompatible, could be produced through recombinant methods and, most important, could be induced to form vesicles.

"The molecule we identified is called oleosin," Hammer said. "It's a surfactant protein found in sunflower and sesame seeds."

Surfactants are soap-like chemicals that have two distinct sides; one side is attracted to water and the other is repelled by it. They can make many structures in solution but making vesicles is rare. Most often, surfactants make micelles, in which a single layer of molecules aggregates with the water-loving part on the outside and the water-hating part on the inside. Micelles have a limited ability to carry drugs. Vesicles, in contrast, have two walls aligned so the two water-hating sides face each other. The water-loving interior cavity allows the transport of a large payload of water-soluble molecules that are suspended in water. Since many drugs are water soluble, vesicles offer significant advantages for drug delivery.

The team systematically modified oleosin to find variants of the molecule that could form vesicles. Getting oleosin to take this complex shape meant selectively removing and changing parts of oleosin's gene sequence so that the corresponding protein would fold the way the researchers wanted after it was produced by the E.coli.

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Natural plant protein converted into drug-delivery vehicles

ScienceDaily (July 3, 2012) oxic chemicals wreak havoc on cells, damaging DNA and other critical molecules. A new study from researchers at MIT and the University at Albany reveals how a molecular emergency-response system shifts the cell into damage-control mode and helps it survive such attacks by rapidly producing proteins that counteract the harm.

Peter Dedon, a professor of biological engineering at MIT, and colleagues had previously shown that cells treated with poisons such as arsenic alter their chemical modification of molecules known as transfer RNA (tRNA), which deliver protein building blocks within a cell. In their new paper, appearing in the July 3 issue of Nature Communications, the research team delved into how these modifications help cells survive.

The researchers found that toxic stresses reprogram the tRNA modifications to turn on a system that diverts the cell's protein-building machinery away from its routine activities to emergency action. "In the end, a stepwise mechanism leads to selective expression of proteins that you need to survive," says Dedon, senior author of the Nature Communications paper.

The findings offer insight into not only cells' response to toxins, but also their reactions to all kinds of stimuli, such as nutrients or hormones, Dedon says. "We're proposing that any time there's a stimulus, you're going to have a reprogramming [of tRNA] that causes selective translation of proteins you need for the next step in whatever you're going to do," he says.

Lead author of the paper is recent MIT PhD recipient Clement Chan. Other MIT authors are postdocs Yan Ling Joy Pang and Wenjun Deng and research scientist Ramesh Indrakanti. Authors from the University at Albany are Thomas Begley, an associate professor of nanobioscience, and research scientist Madhu Dyavaiah.

A new role for RNA

Transfer RNA is made of 70 to 90 ribonucleotide building blocks. After synthesis, the ribonucleotides usually undergo dozens of chemical modifications that alter their structure and function. The primary job of tRNA is to bring amino acids to the ribosomes, which string them together to make proteins.

In a 2010 paper, Dedon and colleagues exposed yeast cells to different toxic chemicals, including hydrogen peroxide, bleach and arsenic. In each case, the cells responded by uniquely reprogramming the location and amount of each tRNA modification. If the cells lost the ability to reprogram the modifications, they were much less likely to survive the toxic attack.

In the new study, the researchers focused on a particular tRNA modification, known as m5C, which occurs when cells encounter hydrogen peroxide, a chemical produced by white blood cells.

They first discovered that this modification occurs predominantly in one of the tRNAs that carry the amino acid leucine. Every amino acid is encoded by three-letter sequences in the genome called codons. Each tRNA corresponds to one amino acid, but most amino acids can be coded by several tRNA sequences. For example, leucine can be coded by six different genome sequences: TTA, TTG, CTT, CTC, CTA and CTG.

Continued here:
Genetic 911: Cells' emergency systems revealed

V. Rajendran and Sujatha have a six-year-old boy, Raghu, who has been diagnosed with LSD (Lysosomal Storage Disorder) and requires medicines costing Rs. 98,000 per dose.

He needs two doses every month. Raghus older sister does not share his genetic problem or understand the seriousness of the situation as she plays with her brother.

We realised his growth was abnormal when he was 18 months old, Mr. Rajendran said. Diagnosis of the disease was the easier part. If the dose is not administered on time, he suffers from swelling of liver and spleen, he said.

Like Raghu, there are 150 children in the State and while some of them need expensive medicines to manage their condition, others need correctional surgeries.

LSD is a group of 45 different genetic diseases, caused by lack of secretion of certain enzymes in the body.

K. Divya (16), a class XI student, looks like a two-year-old. There are no medicines to treat her, however. Her appearance on a television show helped her get admission in school, said her father J. Karunakaran, who also spearheaded a movement called the LSD Support Society to bring together such children and their parents. Divya scored 92 per cent in the class X board exams.

Worldwide, there are around 10,000 children who can live a near normal life if medicine is made available to them, said geneticist Sujatha Jagadeesh of MediScan, a Chennai-based centre which deals with identification and diagnosis of genetic diseases.

Elsewhere, medicines are provided free of cost. We could at least ensure medicines are provided for those conditions that can be managed with drugs, she said.

There are some laboratories that conduct the basic tests but confirmatory diagnosis is done by sending urine and blood samples to Taiwan. A family requiring such tests must pay Rs. 20,000.

Chief medical director of MediScan S. Suresh said there are medicines for six of the diseases under the LSD umbrella but none of the children can afford it.

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Children with genetic disorder write to Chief Minister for help

Newswise BETHESDA, MD July 3, 2012 As the Genetics Society of Americas Model Organism to Human Biology (MOHB): Cancer Genetics Meeting in Washington, D.C. drew to a close, it was clear that the mantra for drug discovery to treat cancers in the post-genomic era is pathways.

Pathways are ordered series of actions that occur as cells move from one state, through a series of intermediate states, to a final action. Because model organisms fruit flies, roundworms, yeast, zebrafish and others are related to humans, they share many of the same pathways, but in systems that are much easier to study. Focusing on pathways in model organisms can therefore reveal new drug targets that may be useful in treating human disease.

By reading evolutions notes, we can discover what really matters in the genome, keynote speaker Eric Lander, Ph.D., founding director of the Broad Institute of Harvard and MIT and professor of biology at MIT, told a packed crowd at the MOHB: Cancer Genetics Meeting on June 19.

What matters the most in the genome of a cancer cell may be the seeds of drug resistance, the genetic changes that enable cells to evade our best drugs. Bert Vogelstein, M.D., director of the Ludwig Center at Johns Hopkins University and an investigator with the Howard Hughes Medical Institute and a keynote speaker on June 17, told participants. He called drug resistance to single agents a fait accompli, or a done deal as a side effect of the evolution of cancer.

About 3,000 resistant cells are present in every visible metastasis, said Dr. Vogelstein. Thats why we see resistance with all therapeutics, even when they work. And we cant get around it with single agents. Cancer treatment requires combinations of agents.

Presentations throughout the meeting offered specific examples of events in pathways involved in the progression of cancer in model organisms that shed light on how human cancer may metastasize.

To identify the genes behind a breast cancers spread to the lungs, Joan Massagu, Ph.D., chair of the Cancer Biology & Genetics Program at Memorial Sloan-Kettering Cancer Center and colleagues, placed cells from the lung fluid of patients into mice, deducing a breast cancer lung metastasis signature and identifying several mediators of metastasis that are clinically relevant and potential drug targets.

Denise Montell, Ph.D., from Johns Hopkins University School of Medicine, traced the signaling pathways that developing egg cells in the Drosophila (fruit fly) ovary use to migrate as using some of the same genes that are expressed as ovarian cancer spreads.

David Botstein, Ph.D., and his group at Princeton University use yeast to model the evolution of cancer through serial mutations, revealing that only a few destinations for a particular type of cancer are possible. Breast cancers cant turn into leukemias, There are limited subtypes, not just anything can happen, he explained.

David Q. Matus, Ph.D., a postdoctoral researcher at Duke University, discussed an in vivo model of cell invasion, a key component of cancer metastasis that occurs during the larval development of the roundworm, Caenorhabditis elegans. He showed that the invasive gonadal anchor cell needs to exit the cell cycle, (be non-dividing), in order to invade. Proliferative anchor cells fail to form "invadopodia" -- invasive feet or protrusions in the basement membrane -- suggesting that cell division and cell invasion are disparate states.

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Following the Genomic Pathways to Stop the Spread of Cancer

02-07-2012 15:42 Uploaded by TheFrontlinereports on Sep 9, 2011 Pandora's Box has surely been opened. A dangerous genetic experiment has come out of the shadows, and the human-animal hybrids, chimeras and other transgenic clones it has yielded now threaten to endanger and irrevocably alter life as we know it. The controllers of elite-funded science and R&D have wantonly tampered with the genetic code of the planet, ignoring the rather obvious dangers posed by cross-species experimentation and flagrantly jeopardizing the earth's delicately-balanced biodiversity. In a special video, Alex Jones addresses the profound risks posed by genetically-modified hybrids now featuring prominently in the field of biotechnology. Fresh revelations about a "secret lab" program in the UK admittedly ongoing 'for the last three years' that developed such bestial-hybrids only serves to reinforce our available data concerning the fact that genetically-modified laboratory creations are fast spinning out of control. Now the biotech industry has unleashed these Franken-breeds into the world under the auspices of monopolizing some of the most important and dangerous developments in Agra, Pharma and Medical research for the 21st Century. Their GM "solutions" to life's challenges promise lucrative returns, as we reported earlier today, due royalties on their patented gene-expressions. Transgenic clones, created by deleting-and-replacing DNA sequences to create a cross-species hybrid ...

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Genetic Armageddon - Video

03-07-2012 01:43 Presentation in Latitude59 panel discussion "Biotechnology and Gene Manipulation: is R&D worth the price?" by Claes Post, Ph.D., Senior Business developer at Linköping University.

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Claes Post: "Biotechnology and Gene Manipulation: is R

03-07-2012 01:43 Presentation in Latitude59 panel discussion "Biotechnology and Gene Manipulation: is R&D worth the price?" by Toomas Neuman Ph.D., Enterpreneur & Cell Biologist, Chief Science Officer, FibroTx.

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Toomas Neuman: "Biotechnology and Gene Manipulation: is R

03-07-2012 01:43 Presentation in Latitude59 panel discussion "Biotechnology and Gene Manipulation: is R&D worth the price?" by Mart Ustav Ph.D., Enterpreneur & Academic, SVP at FIT Biotech, Professor of Biomedical Technology at the University of Tartu.

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Mart Ustav: "Biotechnology and Gene Manipulation: is R

Research gets to root of cancer gene

By Fiachra Cionnaith

Tuesday, July 03, 2012

A joint Irish Cancer Society and University College Cork team has found a way to show how a critical cancer-causing gene found in acute myeloid leukemia can survive in the body meaning a cure is one step closer to reality.

This specific type of cancer, which is diagnosed in 80 Irish children and adults a year, starts inside the bone marrow and grows from cells that in a healthy body turn into white blood cells.

When this occurs, the bone marrow stops to work properly, making sufferers more prone to infection and other serious illnesses.

A long-term study led by UCC Professor of Biochemistry Thomas Cotter and ICS research scholar Joanna Stanicka has found this cancer survives in the body by generating reactive oxygen molecules.

This then allows a tumour to grow in "an uncontrolled and aggressive manner".

The study findings were presented for the first time over the weekend at an international cancer fatalities conference in Singapore, and will be published in the peer-reviewed journal PLoS ONE on July 13.

Linked research by Prof Cotter in the 1990s focussed on how the same cancer-causing gene can block the "suicide gene" defence mechanism the body uses to kill off malfunctioning cells.

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Research gets to root of cancer gene

Imagine a lotion that can treat irreversible genetic skin diseases like psoriasis or life-threatening skin cancers like melanoma. Researchers at Northwestern University say they're another step closer to creating a treatment that will naturally slip through the skin and genetically alter cells to treat a particular skin disease.

Using creams and lotions to target a particular problem area is seen as a great advantage among many dermatologists in treating a localized skin problem.

"We like to treat skin diseases with topical creams so that we avoid side effects from treatments taken by mouth or injected," said Dr. Amy Paller, chair of dermatology and professor of pediatrics at Northwestern University Feinberg School of Medicine.

But the difficulty among researchers has been creating a gene-altering topical agent that can successfully penetrate the skin to specifically treat genetic skin diseases.

"The problem is that our skin is a formidable barrier," Paller said. "Genetic material can't get through the skin through regular means."

Using nanotechnology, the researchers packaged gene-altering structures on top of tiny particles of gold designed to target epidermal growth factor receptor, a genetic marker associated with many types of skin cancers. The structure is designed to sneak through the skin and latch onto targets underneath without eliciting an immune response.

The researchers mixed the structure into the ointment Aquaphor, which is commonly used among many patients who have dry skin or irritation.

The researchers then rubbed the ointment onto the mice and onto human skin tissue and saw the gene-altering structure in the lotion successfully penetrated the skin and was able to shut down the potentially cancer-causing protein, according to the findings published Monday in the journal Proceedings of the National Academy of Sciences.

The preliminary study is regarded as the first to deliver topical gene therapy effectively with no toxic effects.

Topical steroids are the most commonly used cream-based treatment for skin problems such as psoriasis. While they can treat inflammation or other effects of a skin disease, they do not treat the underlying mechanism that's causing the problem, Paller said. And in cases like melanoma, the diseased cells are often surgically removed from the skin, leaving scarring.

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Lotion May Treat Skin Diseases

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/x5ds4f/the_year_in_human) has announced the addition of John Wiley and Sons Ltd's new book "The Year in Human and Medical Genetics: Inborn Errors of Immunity II" to their offering.

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011.

This volume focuses on new developments in primary immunodeficiencies" (PIDs), insights into PID pathophysiology, and PIDs in India and the Middle East. Volume I opens with a dialog between the volume editors on the definition of PIDs; additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific.

For more information visit http://www.researchandmarkets.com/research/x5ds4f/the_year_in_human

Source: John Wiley and Sons Ltd

Excerpt from:
Research and Markets: The Year in Human and Medical Genetics: Inborn Errors of Immunity II

PHILADELPHIA Douglas C. Wallace, PhD, professor of Pathology and Laboratory Medicine, at the Perelman School of Medicine, University of Pennsylvania, is the recipient of the 2012 Genetics Prize of the Gruber Foundation. Wallace is a pioneering genetics researcher who founded the field of mitochondrial genetics in humans. He is also the director of the Center for Mitochondrial and Epigenomic Medicine at The Children's Hospital of Philadelphia.

Wallace is being honored with this prestigious international award for his groundbreaking achievements in understanding the role of mitochondriathe "power plants" of cellsin the development of disease and as markers for human evolution. He is also being honored for training and inspiring numerous pre- and postdoctoral students who have gone on to have distinguished careers of their own.

Wallace will receive the award on November 9 at the annual meeting of the American Society of Human Genetics in San Francisco. The Gruber Foundation, now based at Yale University, announced the Genetics Prize on June 28. The Foundation's Genetics Prize annually honors leading scientists for groundbreaking contributions to genetics research. The Peter and Patricia Gruber Foundation's International Prize Program honors contemporary individuals in the fields of Cosmology, Genetics, Neuroscience, Justice and Women's Rights, whose groundbreaking work provides new models that inspire and enable fundamental shifts in knowledge and culture. The Gruber Foundation's Genetics Prize, a gold medal and an unrestricted $500,000 cash award for fundamental insights in the field of genetics, was established in 2001.

"Douglas Wallace's contributions to our understanding of mitochondrial genetics have changed the way human and medical geneticists think about the role of mitochondria in human health and disease." said Elizabeth Blackburn, chair of the Selection Advisory Board to the Prize. Blackburn is the 2006 Gruber Genetics Prize laureate and shared the 2009 Nobel Prize in Physiology and Medicine.

Wallace began his research on mitochondrial biology 40 years ago, at a time when few people thought the study of mitochondria and its DNA (mtDNA) would have any significant applications for clinical medicine. In the late 1970s, Wallace demonstrated that human mtDNA is inherited solely through the mother. Using maternal inheritance as a guide, Wallace identified the first inherited mtDNA disease -Leber's hereditary optic neuropathy - and subsequently linked mtDNA mutations to a wide range of clinical symptoms, including deafness, neuropsychiatric disorders, cardiac and muscle problems, and metabolic diseases such as diabetes. Wallace also showed that mtDNA mutations accumulate in human tissue with age, and thus may play a role in age-related diseases, such as heart disease and cancer. In addition, he found that the levels of these age-related mtDNA mutations are higher in the brains of people with certain neurodegenerative diseases, including Alzheimer disease, Parkinson disease, and Huntington disease.

Wallace's research has also made a major contribution to the field of molecular anthropology. Using mtDNA variation, he has reconstructed the origins and ancient migrations of women, tracing all mtDNA lineages back some 200,000 years to a single African origin the so-called mitochondrial Eve.

Wallace holds the Michael and Charles Barnett Endowed Chair in Pediatric Mitochondrial Medicine at Children's Hospital. He is a member of the National Academy of Sciences, as well as the Academy's Institute of Medicine, and is also a member of the American Academy of Arts and Sciences. Wallace joined the Penn Department of Pathology and Laboratory Medicine in 2010 and previously held academic positions at Stanford University, at Emory University, where he chaired the Department of Genetics and Molecular Medicine, and most recently at the University of California Irvine, where he was Director of the Center for Molecular and Mitochondrial Medicine and Genetics.

For more information, read the Gruber Foundation news release.

The Perelman School of Medicine is currently ranked #2 in U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $479.3 million awarded in the 2011 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top 10 hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Continued here:
Douglas Wallace to Receive Gruber Foundation 2012 Genetics Prize

When last we met, the subject was athletic performance enhancement. I spoke of modalities for raising one's game, including surgery, lucky genetics and, of course, eau de Canseco, also known as anabolic steroids. That column contended that many world-class athletes are freaksof nature, yes, but freaks nonetheless. In effect, they make use of performance-enhancing substances that happen to be produced by their own bodies rather than by a friend of a friend who knows a really good pharmaceutical chemist.

I'll continue to pull on that thread briefly here because within days of that column going to press, news broke that is directly related to the topic. After being lobbied by the union representing its players, the National Football League has agreed to do a study. The investigation will try to determine if football players, who represent the last remnants of a once thriving pre-Clovis North American population of megafauna, naturally have crazy high amounts of compounds that can make one large.

As the New York Times put it on April 21, the union has said that football players, because of their size, might have a higher level of naturally occurring human growth hormone [HGH] and could be at risk of having false positives. At which point, league officials would presumably stand on a chair to raise the level of HGH that counts as a positive test result in pigskin land.

All of which brings me back to the question I asked last time: If users of performance-enhancing drugs are disqualified, should holders of performance-enhancing mutations be barred, too? In other wordsand I do not know the right answer to this questionwhy is it okay for a guy to have a body that makes a lot of hormone but not a buddy who makes a lot of hormone to inject?

Speaking of hormones and injections, have you seen Museum of Copulatory Organs? Part of the 18th Sydney Biennale in Australia, this collection of 3-D models of insect genitalia was the Ph.D. project of Colombian-born artist Maria Fernanda Cardoso.

Her previous claim to fame was a recreation of a 19th-century-style flea circus, which is paradoxically no small task. A blog post at the Australian Broadcasting Corporation (ABC) Web site quotes Cardoso as saying, It's one of the hardest things in life to train fleas, it took six years and it requires a lot of patience, no one knew how to train fleas anymore. Actually the New York City subway system still trains fleas on a daily basis, judging by the number of passengers carrying tiny dogs around with them for some reason probably related to the effect of Paris Hilton on our culture.

According to the ABC article, Cardoso was inspired to pursue the copulatory organ project when she found within the flea literature this quote about the insects' penises: It's not size that matters, it is shape. Indeed, some insect penises come equipped with hooks that enable the ensconced male to grab a previous suitor's sperm packet and remove it from the female. I suggest that these hooks be called cuckholders.

Speaking of shaft-shaped devices used to convey information, have you visited the Cumberland Pencil Museum in England lately? It bills itself as a great all weather attraction for the whole family, although I would submit that a pencil museum is best appreciated when rain necessitates the cancellation of outdoor festivities. Fortunately for pencil aficionados, this is England.

The museum's Web site speculates that Cumberland locals first struck graphite some five centuries ago, when a violent storm uprooted trees and unearthed vast stores of the carbon allotrope. Shepherds soon used the material to mark their sheep. Meanwhile aspiring scribes wrapped sticks of graphite in sheep hides to make rudimentary pencils. This animal-implement relationship was clearly the source of the old adage He was as write as a sheep.

Pencils reached their pinnacle in the U.S. in the second half of the 20th century, when millions of high school students clutched No. 2 versions in their clammy hands to mark the answers on their SATs. Some who may not have done well still managed to earn sheepskins by carrying pigskins.

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Genetics and Graphite Provide Scribe Fodder

ScienceDaily (July 2, 2012) Getting under your skin takes on a brave new meaning thanks to Northwestern University research that could transform gene regulation.

A team led by a physician-scientist and a chemist -- from the fields of dermatology and nanotechnology -- is the first to demonstrate the use of commercial moisturizers to deliver gene regulation technology that has great potential for life-saving therapies for skin cancers.

The topical delivery of gene regulation technology to cells deep in the skin is extremely difficult because of the formidable defenses skin provides for the body. The Northwestern approach takes advantage of drugs consisting of novel spherical arrangements of nucleic acids. These structures, each about 1,000 times smaller than the diameter of a human hair, have the unique ability to recruit and bind to natural proteins that allow them to traverse the skin and enter cells.

Applied directly to the skin, the drug penetrates all of the skins layers and can selectively target disease-causing genes while sparing normal genes. Once in cells, the drug simply flips the switch of the troublesome genes to off.

A detailed study of a method that could dramatically redefine the field of gene regulation will be published online during the week of July 2 by the Proceedings of the National Academy of Sciences (PNAS).

Early targets of the novel treatment are melanoma and squamous cell carcinoma (two of the most common types of skin cancer), the common inflammatory skin disorder psoriasis, diabetic wound healing and a rare genetic skin disorder that has no effective treatment (epidermolytic ichthyosis). Other targets could even include wrinkles that come with aging skin.

The technology developed by my collaborator Chad Mirkin and his lab is incredibly exciting because it can break through the skin barrier, said co-senior author Amy S. Paller, M.D., the Walter J. Hamlin Professor, chair of dermatology and professor of pediatrics at Northwestern University Feinberg School of Medicine. She also is director of Northwesterns Skin Disease Research Center.

This allows us to treat a skin problem precisely where it is manifesting -- on the skin, she said. We can target our therapy to the drivers of disease, at a level so minute that it can distinguish mutant genes from normal genes. Risks are minimized, and side effects have not been seen to date in our human skin and mouse models.

A co-senior author of the paper, Mirkin is the George B. Rathmann Professor of Chemistry in the Weinberg College of Arts and Sciences and professor of medicine, chemical and biological engineering, biomedical engineering and materials science and engineering. He also is the director of Northwesterns International Institute for Nanotechnology.

Mirkin first developed the nanostructure platform used in this study in 1996 at Northwestern, and the FDA-cleared technology now is the basis of powerful commercialized medical diagnostic tools. This, however, is the first realization that the nanostructures naturally enter skin and that they can deliver a large payload of therapeutics.

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Breaking the skin barrier: Drugs topically deliver gene therapy via commercial moisturizers for skin disease treatment

02-07-2012 09:43 State of the Nation is a nightly newscast anchored by award-winning broadcast journalist, Jessica Soho. It airs Mondays to Fridays at 9:00 PM (PHL Time) on GMA News TV Channel 11. For more videos from State of the Nation, visit fthenation.

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SONA: Stem cell therapy, kaya raw makapagpabata ng pangangatawan - Video

Public release date: 2-Jul-2012 [ | E-mail | Share ]

Contact: Sarah Jackson press_releases@the-jci.org Journal of Clinical Investigation

In Parkinson's disease, the loss of dopamine-producing cells in the midbrain causes well-characterized motor symptoms. Though embryonic stem cells could potentially be used to replace dopaminergic (DA) neurons in Parkinson's disease patients, such cell therapy options must still overcome technical obstacles before the approach is ready for the clinic. Embryonic stem cell-based transplantation regimens carry a risk of introducing inappropriate cells or even cancer-prone cells. To develop cell purification strategies to minimize these risks, Dr. Lorenza Studer and colleagues at Memorial Sloan Kettering Cancer Center in New York developed three different mouse lines to fluorescently label dopaminergic neurons at early, mid, and late stages of differentiation. Their data suggest that mouse embryonic stem cells induced to the mid stage of neuronal differentiation are best suited for transplantation to replace dopaminergic neurons. Further, their work identified new genes associated with each stage of neuronal differentiation. Their results in the mouse model system help define the differentiation stage and specific attributes of embryonic stem cell-derived, dopamine-generating cells that hold promise for cell therapy applications.

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TITLE:

Identification of embryonic stem cellderived midbrain dopaminergic neurons for engraftment

AUTHOR CONTACT:

Lorenz Studer

Memorial Sloan Kettering Cancer Center, New York, NY, USA

Phone: 212.639.6126; E-mail: studerl@mskcc.org

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Generating dopamine via cell therapy for Parkinson's disease

01-07-2012 19:52 Does identifying athletic genes matter to you? Professor Kathryn North's research led to the discovery of the 'gene for speed'. Learn more and have your say at

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Identifying athletic genes matters to Kathryn North - Video

Public release date: 2-Jul-2012 [ | E-mail | Share ]

Contact: Marla Paul marla-paul@northwestern.edu 312-503-8928 Northwestern University

EVANSTON, Ill. --- Getting under your skin takes on a brave new meaning thanks to Northwestern University research that could transform gene regulation.

A team led by a physician-scientist and a chemist -- from the fields of dermatology and nanotechnology -- is the first to demonstrate the use of commercial moisturizers to deliver gene regulation technology that has great potential for life-saving therapies for skin cancers.

The topical delivery of gene regulation technology to cells deep in the skin is extremely difficult because of the formidable defenses skin provides for the body. The Northwestern approach takes advantage of drugs consisting of novel spherical arrangements of nucleic acids. These structures, each about 1,000 times smaller than the diameter of a human hair, have the unique ability to recruit and bind to natural proteins that allow them to traverse the skin and enter cells.

Applied directly to the skin, the drug penetrates all of the skins layers and can selectively target disease-causing genes while sparing normal genes. Once in cells, the drug simply flips the switch of the troublesome genes to off.

A detailed study of a method that could dramatically redefine the field of gene regulation will be published online during the week of July 2 by the Proceedings of the National Academy of Sciences (PNAS).

Early targets of the novel treatment are melanoma and squamous cell carcinoma (two of the most common types of skin cancer), the common inflammatory skin disorder psoriasis, diabetic wound healing and a rare genetic skin disorder that has no effective treatment (epidermolytic ichthyosis). Other targets could even include wrinkles that come with aging skin.

The technology developed by my collaborator Chad Mirkin and his lab is incredibly exciting because it can break through the skin barrier, said co-senior author Amy S. Paller, M.D., the Walter J. Hamlin Professor, chair of dermatology and professor of pediatrics at Northwestern University Feinberg School of Medicine. She also is director of Northwesterns Skin Disease Research Center.

This allows us to treat a skin problem precisely where it is manifesting -- on the skin, she said. We can target our therapy to the drivers of disease, at a level so minute that it can distinguish mutant genes from normal genes. Risks are minimized, and side effects have not been seen to date in our human skin and mouse models.

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Breaking the skin barrier

By Brian Alexander

Most people who buy cosmetic lotions and potions know that while the people working behind the department store makeup counters may wear white lab coats, the stuff they sell is more about packaging than science.

But a Northwestern University team is bucking that image, reporting today that theyve created a way to regulate genes affecting the skin -- merely by applying moisturizer.

Not only could their technology pave the way for cosmetics that actually work, but it also might also prove to be a valuable weapon in fighting melanoma, the deadliest form of skin cancer, or diseases like psoriasis, and wounds like the intractable sores that often plague diabetics.

This is a blockbuster in the ways we will treat diseases of the skin, saidChad Mirkin, director of the International Institute for Nanotechnology and the George B. Rathmann Professor of Chemistry at Northwestern said. Were talking about ailments, scarring, wound healing, ways of regulating them or retarding them.

In a research paper published today in the Proceedings of the National Academy of Sciences, Mirkin and his colleagues describe not a drug, exactly, but a way of delivering small sections of nucleic acids (DNA and RNA are nucleic acids) called short interfering RNA, or siRNA, to cells. The cells take up the siRNA, which then alters the way a gene inside each cell can be read by the protein-making system.

The team used gold particles with a diameter of 13 nanometers. (One nanometer is 1-billionth of a meter. A typical strand of human hair is roughly 60,000 nanometers wide.) They coated the particles with siRNA to create what they call spherical nucleic acid nanoparticleconjugates, or SNAs. Millions of SNAs were then added to a commercially available petroleum-based skin moisturizer and the mixture was applied to mice and to lab-grown human skin.

In their key experiment in mice, they used their new system to tamp down the activity of a gene called epidermal growth factor receptor, or EGFR, thats involved in the growth of melanoma. As its name implies, EGFR receives messages from the epidermal growth factor protein. So toning down EGFR will interrupt the message; growth will be reduced or stop.

After mice were treated with the mixture three times per week for three weeks, the expression of the EGFR gene was reduced by 65 percent.

'Impressive' resultsSteve Dowdy, professor of cellular and molecular medicine at the University of California San Diego, and a Howard Hughes Medical Institute investigator specializing in RNA inhibition and ways to deliver siRNAs, called that result impressive.

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Gene healing in a lotion? Researchers are close

In February last year, The New York Times published an interview with my University of Chicago colleague Janet Rowley. Janet is deservedly famous for finding a repeated chromosome rearrangement in certain types of leukemia. This was one of the earliest indications that genome changes in cancer cells do not occur randomly.

In the interview, Janet explained how she discovered this particular chromosome change, now called the "Philadelphia Chromosome." She was just looking through the microscope, motivated by her curiosity to know more about these tumor cells.

Janet pointed out that she might well not be able to repeat her discovery in today's scientific environment. She was practicing what she called "observationally driven research." Today, she said, granting agencies don't support that kind of work. "That's the kiss of death if you're looking for funding today. We're so fixated now on hypothesis-driven research that if you do what I did, it would be called a 'fishing expedition,' a bad thing."

In other words, you have to know what kind of result to expect before the funding agencies will give you money to look for it. Surprises are not fundable. But "surprise" is just another word for "discovery." As Janet put it, "I keep saying that fishing is good. You're fishing because you want to know what's there."

Let's look at how we would "fish" for complex genomic novelty through natural genetic engineering. I can think of two approaches. There will definitely turn out to be more.

One approach was included in my book. The idea was to do interspecific hybridization with a well-characterized organism, like the mustard weed Arabidopsis, and follow what happens with the genetically unstable hybrid progeny.

We know that interspecific hybridization and genome duplication lead to high levels of genomic and phenotypic variation. DNA sequencing has found evidence of genome duplication at many critical points of evolutionary divergence, especially in plants. There is a fine Scientific American article by the famous 20th-century evolutionist G. Ledyard Stebbins entitled "Cataclysmic Evolution," which describes how hybridization between two wild grasses can recreate the origin of flour wheat.

The hybrid progeny can be followed, and those plants that develop significant new traits, such as flower patterns, can then be analyzed. Sequencing the whole Arabidopsis genome in a short time is now feasible. The sequence data will let the Arabidopsis genome speak for itself in telling us how the new traits evolved.

We can then look for multiple changes that show signs of coordination in the underlying natural genetic engineering events. Such coordinated events might be insertions of the same or related mobile elements at distinct locations in the genome or the addition of the same domains to more than one protein in the network responsible for development of the novel trait.

The second "fishing" approach to asking how a novel feature can evolve would use a microbe, as suggested in the previous blog on experimental evolution. In this case, however, the changes would not be pre-targeted to a number of different sites in the genome.

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James A. Shapiro: Experimental Evolution II: More Ways to Watch Natural Genetic Engineering in Real Time