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* Reuters is not responsible for the content in this press release.

Wed Oct 30, 2013 5:14pm EDT

INHERIT EGFR study expands to second site

SAN CARLOS, Calif., Oct. 30, 2013 /PRNewswire-USNewswire/ -- A new research study, funded by the Bonnie J. Addario Lung Cancer Foundation (ALCF), is aiming to understand how an inherited gene in some lung cancer patients could serve as an early detection screening for family members.

"We're hoping this study provides new insight for methods to screen for lung cancer in people who might not have otherwise qualified for screening: the family members of lung cancer patients," said Bonnie J. Addario, lung cancer survivor and founder of the ALCF. "And we also hope to show that lung cancer doesn't just affect people who smoke."

The INHERIT (Investigating Hereditary Risk from T790M) research study, facilitated by the Addario Lung Cancer Medical Institute (ALCMI), is the first to apply inherited familial genetics widely used to assess risk for breast and colon cancer to provide insight into lung cancer. Dr. Geoffrey Oxnard and a team of physicians at Dana-Farber/Brigham and Women's Cancer Center in Boston, MA are leading the INHERIT study to understand whether the presence of the T790M gene mutation in lung cancers is associated with an inherited gene alteration. Oxnard's team will also examine whether having the inherited form of T790M raises the risk of lung cancer in patients and families. The ALCMI study was launched at Dana-Farber and has now expanded to include Vanderbilt-Ingram Cancer Center in Nashville, Tenn. No travel is required to participate.

"This is the first time we are using cancer genetics to offer insight into inherited familial genetics. For breast cancer or colon cancer, it is patients with a family history that get evaluated for inherited mutations in cancer risk genes," said Geoffrey Oxnard, MD, the lead researcher on the study. "For lung cancer, we propose that it is patients with specific genetic subtypes of lung cancer, those carrying the EGFR T790M mutation, that need to be evaluated for an inherited mutation in their family."

Ultimately, the study aims to identify individuals and families who may have an increased risk of developing lung cancer so they can work with their physicians to reduce and manage that risk. Understanding lung cancer's underlying biology in high-risk families could also provide unique insight into why the disease develops and determine whether "germline" (inherited) factors may partly explain lung cancer in individuals without apparent carcinogenic association.

"We are funding this study because of our patient first commitment," Addario said, "and with the hope to raise awareness that the risk for lung cancer exists regardless of smoking history. In 2013 alone, 34,000 people who never smoked will be diagnosed with lung cancer. That population of cancer patients, isolated, would represent the seventh leading cancer in the U.S."

The INHERIT study is offered through Dana-Farber/Harvard Cancer Center, Vanderbilt-Ingram Cancer Center, and soon at other ALCMI member institutions in the United States and Europe. It is led by Geoffrey Oxnard, MD at Dana-Farber/Brigham and Women's Cancer Center. Dana-Farber and Vanderbilt are National Cancer Institute-designated Comprehensive Cancer Centers.

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Research study aims to understand inherited lung cancer gene | Reuters

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The Section of Genetic Medicine was created in May 2005 to both build research infrastructure in genetics within the Department of Medicine and to focus translational efforts related to genetics. I am proud to have been chosen to lead this new section. My expertise is in quantitative human genetics with a long-standing research program focused on understanding the genetic component to complex phenotypes, including diabetes (MODY, type 1 diabetes and type 2 diabetes), asthma and related phenotypes, psychiatric disorders (autism, bipolar disorder, obsessive-compulsive disorders, Tourettes Syndrome, and schizophrenia) and speech disorders such as stuttering. Yves Lussier M.D., a talented physician scientist with substantial expertise in medical informatics and bioinformatics, joined the section in January 2006 and is already building his research program. Among his research interests are systems medicine and phenomics. In the summer of 2006, two new faculty will join our section with diverse but complementary research interests in genetic and genomic science.

Among the first of the initiatives in which the Section of Genetic Medicine has contributed in is beginning the Translational Research Initiative of the Department of Medicine (TRIDOM ) sample collections. Protocols have been approved for sample collections in Department of Medicine outpatient clinics, and initial efforts are underway in several of the clinics to collect samples. The early efforts have been very rewarding nearly 70% of patients offered the opportunity to participate in the studies have agreed to do so! If we can continue to achieve high participation rates as we increase the number of clinics in which samples are collected, we will indeed have a very rich sample resource for Department of Medicine scientists to tap for their research needs. Look for more information about TRIDOM protocols and other resources available through the Section of Genetic Medicine on this website in the future.

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Genetic Medicine - The University of Chicago Department of Medicine

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Welcome to Genetics in Medicine

Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine. Stay tuned for cutting-edge clinical research in areas such as genomics, chromosome abnormalities, metabolic diseases, single gene disorders and genetic aspects of common complex diseases.

Genetics in Medicine has launched a new online submission system. Submit your manuscript here.

Instructions to Authors Here you will find all the information you need to submit your manuscript including details on word limits.

Open Access Genetics in Medicine now offers authors the option to publish their articles with immediate open access upon publication. Find out more from our FAQs page.

Volume 15, No 10 October 2013 ISSN: 1098-3600 EISSN: 1530-0366

2012 Impact Factor 5.560* Rank: 20/161 Genetics & Heredity

Editor-in-Chief: James P. Evans, MD, PhD

*2012 Journal Citation Report (Thomson Reuters, 2013)

Genetics in Medicine now offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from our FAQs page.

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Genetics in Medicine - Nature

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Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from Human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, and mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

See the article here:
Medical genetics - Wikipedia, the free encyclopedia

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Pigeon Genetics [06] Grizzle
Common autosomal (co)dominate, Seen in many breeds but not the only way to get white splashed pigeons. (Click #39;Show more #39;) We are NOT professionals or geneti...

By: FlyingTipplers

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Pigeon Genetics [06] Grizzle - Video

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Genetics is a discipline of biology.[1] It is the science of heredity. This includes the study of genes, and the inheritance of variation and traits of living organisms.[2][3][4] In the laboratory, genetics proceeds by mating carefully selected organisms, and analysing their offspring. More informally, genetics is the study of how parents pass some of their characteristics to their children. It is an important part of biology, and gives the basic rules on which evolution acts.

The fact that living things inherit traits from their parents has been known since prehistoric times, and used to improve crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the process of inheritance, only began with the work of Gregor Mendel in the mid-nineteenth century.[5] Although he did not know the physical basis for heredity, Mendel observed that organisms inherit traits via discrete units of inheritance, which are now called genes.

Living things are made of millions of tiny self-contained components called cells. Inside of each cell are long and complex molecules called DNA.[6]DNA stores information that tells the cells how to create that living thing. Parts of this information that tell how to make one small part or characteristic of the living thing red hair, or blue eyes, or a tendency to be tall are known as genes.

Every cell in the same living thing has the same DNA, but only some of it is used in each cell. For instance, some genes that tell how to make parts of the liver are switched off in the brain. What genes are used can also change over time. For instance, a lot of genes are used by a child early in pregnancy that are not used later.

A living thing has two copies of each gene, one from its mother, and one from its father.[7] There can be multiple types of each gene, which give different instructions: one version might cause a person to have blue eyes, another might cause them to have brown. These different versions are known as alleles of the gene.

Since a living thing has two copies of each gene, it can have two different alleles of it at the same time. Often, one allele will be dominant, meaning that the living thing looks and acts as if it had only that one allele. The unexpressed allele is called recessive. In other cases, you end up with something in between the two possibilities. In that case, the two alleles are called co-dominant.

Most of the characteristics that you can see in a living thing have multiple genes that influence them. And many genes have multiple effects on the body, because their function will not have the same effect in each tissue. The multiple effects of a single gene is called pleiotropism. The whole set of genes is called the genotype, and the total effect of genes on the body is called the phenotype. These are key terms in genetics.

We know that man started breeding domestic animals from early times, probably before the invention of agriculture. We do not know when heredity was first appreciated as a scientific problem. The Greeks, and most obviously Aristotle, studied living things, and proposed ideas about reproduction and heredity.[8]

Probably the most important idea before Mendel was that of Charles Darwin, whose idea of pangenesis had two parts. The first, that persistent hereditary units were passed on from one generation to another, was quite right. The second was his idea that they were replenished by 'gemmules' from the somatic (body) tissues. This was entirely wrong, and plays no part in science today.[9] Darwin was right about one thing: whatever happens in evolution must happen by means of heredity, and so an accurate science of genetics is fundamental to the theory of evolution. This 'mating' between genetics and evolution took many years to organise. It resulted in the Modern evolutionary synthesis.

The basic rules of genetics were first discovered by a monk named Gregor Mendel in around 1865. For thousands of years, people had already studied how traits are inherited from parents to their children. However, Mendel's work was different because he designed his experiments very carefully.

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Genetics - Simple English Wikipedia, the free encyclopedia

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Resources and information to help you understand genetics. Find information on genes, chromosomes, reproduction and more.

Genetic Code The genetic code is the information in DNA and RNA that determines amino acid sequences in protein synthesis.

Chromosome Mutation A chromosome mutation causes changes in the structure or number of chromosomes in a cell. These mutations are often caused by errors that occur during the process of cell division or by mutagens.

Gene Mutation A gene mutation is any change that occurs in the DNA. These changes can be beneficial to, have some effect on, or be seriously detrimental to an organism.

Sex-Linked Traits Sex-linked traits originate from genes found on sex chromosomes. Hemophilia is an example of a common sex-linked disorder that is an X-linked recessive trait.

Blood Type The presence or absence of certain identifiers on the surface of red blood cells determine human blood type.

Asexual Reproduction An introduction to the mechanisms of asexual reproduction in animals.

Reproduction in Animals: Sexual Reproduction An introduction to the mechanisms of sexual reproduction in animals.

Sexual Reproduction: Fertilization Information on internal and external modes of fertilization.

African Americans in Science Learn about the contributions that various African American scientists and inventors have made to science.

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Genetics - About.com Biology

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DNA EXTRACTION

DNA is extracted from human cells for a variety of reasons. With a pure sample of DNA you can test a newborn for a genetic disease, analyze forensic evidence, or study a gene involved in cancer. Try this virtual laboratory to perform a cheek swab and extract DNA from human cells.

PCR

PCR is a relatively simple and inexpensive tool that you can use to focus in on a segment of DNA and copy it billions of times over. PCR is used every day to diagnose diseases, identify bacteria and viruses, match criminals to crime scenes, and in many other ways. Step up to the virtual lab bench and see how it works!

Have you ever wondered how scientists work with tiny molecules that they can't see? Here's your chance to try it yourself! Sort and measure DNA strands by running your own gel electrophoresis experiment.

DNA MICROARRAY

DNA microarray analysis is one of the fastest-growing new technologies in the field of genetic research. Scientists are using DNA microarrays to investigate everything from cancer to pest control. Now you can do your own DNA microarray experiment! Here you will use a DNA microarray to investigate the differences between a healthy cell and a cancer cell.

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Learn.Genetics™

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This article is about the general scientific term. For the scientific journal, see Genetics (journal).

Genetics (from Ancient Greek genetikos, "genitive" and that from genesis, "origin"),[1][2][3] a discipline of biology, is the science of genes, heredity, and variation in living organisms.[4][5]

Genetics concerns the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behavior in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations (such as through Genome-Wide Association Studies). Given that genes are universal to living organisms, genetics can be applied to the study of all living systems; including bacteria, plants, animals, and humans. The observation that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding[citation needed]. The modern science of genetics, seeking to understand this process, began with the work of Gregor Mendel in the mid-19th century.[6]

Mendel observed that organisms inherit traits by way of discrete 'units of inheritance.' This term, still used today, is a somewhat ambiguous definition of a gene. A more modern working definition of a gene is a portion (or sequence) of DNA that codes for a known cellular function. This portion of DNA is variable, it may be small or large, have a few subregions or many subregions. The word 'Gene' refers to portions of DNA that are required for a single cellular process or single function, more than the word refers to a single tangible item. A quick idiom that is often used (but not always true) is 'one gene, one protein' meaning a singular gene codes for a singular protein type in a cell. Another analogy is that a 'gene' is like a 'sentence' and 'letters' are like 'nucleotides.' A series of nucleotides can be put together without forming a gene (non-coding regions of DNA), like a string of letters can be put together without forming a sentence (babble). Nonetheless, all sentences must have letters, like all genes must have a nucleotides.

The sequence of nucleotides in a gene is read and translated by a cell to produce a chain of amino acids which in turn spontaneously fold into proteins. The order of amino acids in a protein corresponds to the order of nucleotides in the gene. This relationship between nucleotide sequence and amino acid sequence is known as the genetic code. The amino acids in a protein determine how it folds into its unique three-dimensional shape; a structure that is ultimately responsible for the proteins function. Proteins carry out many of the functions needed for cells to live. A change to the DNA in a gene can change a protein's amino acid sequence, thereby changing its shape and function, rendering the protein ineffective or even malignant (see: sickle cell anemia). When a gene change occurs, it is referred to as a mutation.

Although genetics plays a large role in the appearance and behavior of organisms, it is a combination of genetics with the organisms' experiences (aka. environment) that determines the ultimate outcome. Genes may be activated or inactivated, which is determined by a cell's or organism's environment, intracellularly and/or extracellularly. For example, while genes play a role in determining an organism's size, the nutrition and health it experiences after inception also have a large effect.

Although the science of genetics began with the applied and theoretical work of Gregor Mendel in the mid-19th century, other theories of inheritance preceded Mendel. A popular theory during Mendel's time was the concept of blending inheritance: the idea that individuals inherit a smooth blend of traits from their parents.[citation needed] Mendel's work provided examples where traits were definitely not blended after hybridization, showing that traits are produced by combinations of distinct genes rather than a continuous blend. Blending of traits in the progeny is now explained by the action of multiple genes with quantitative effects. Another theory that had some support at that time was the inheritance of acquired characteristics: the belief that individuals inherit traits strengthened by their parents. This theory (commonly associated with Jean-Baptiste Lamarck) is now known to be wrongthe experiences of individuals do not affect the genes they pass to their children,[7] although evidence in the field of epigenetics has revived some aspects of Lamarck's theory.[8] Other theories included the pangenesis of Charles Darwin (which had both acquired and inherited aspects) and Francis Galton's reformulation of pangenesis as both particulate and inherited.[9]

Modern genetics started with Gregor Johann Mendel, a German-Czech Augustinian monk and scientist who studied the nature of inheritance in plants. In his paper "Versuche ber Pflanzenhybriden" ("Experiments on Plant Hybridization"), presented in 1865 to the Naturforschender Verein (Society for Research in Nature) in Brnn, Mendel traced the inheritance patterns of certain traits in pea plants and described them mathematically.[10] Although this pattern of inheritance could only be observed for a few traits, Mendel's work suggested that heredity was particulate, not acquired, and that the inheritance patterns of many traits could be explained through simple rules and ratios.

The importance of Mendel's work did not gain wide understanding until the 1890s, after his death, when other scientists working on similar problems re-discovered his research. William Bateson, a proponent of Mendel's work, coined the word genetics in 1905.[11][12] (The adjective genetic, derived from the Greek word genesis, "origin", predates the noun and was first used in a biological sense in 1860.)[13] Bateson popularized the usage of the word genetics to describe the study of inheritance in his inaugural address to the Third International Conference on Plant Hybridization in London, England, in 1906.[14]

After the rediscovery of Mendel's work, scientists tried to determine which molecules in the cell were responsible for inheritance. In 1911, Thomas Hunt Morgan argued that genes are on chromosomes, based on observations of a sex-linked white eye mutation in fruit flies.[15] In 1913, his student Alfred Sturtevant used the phenomenon of genetic linkage to show that genes are arranged linearly on the chromosome.[16]

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Genetics - Wikipedia, the free encyclopedia

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At the forefront of medicine, Gene Therapy brings you the latest research into genetic and cell-based technologies to treat disease. It also publishes Progress & Prospects reviews and News and Commentary articles, which highlight the cutting edge of the field.

Volume 20, No 10 October 2013 ISSN: 0969-7128 EISSN: 1476-5462

2012 Impact Factor 4.321* 70/290 Biochemistry & Molecular Biology 22/159 Biotechnology & Applied Microbiology 33/161 Genetics & Heredity 25/121 Medicine, Research & Experimental

Editors: J Glorioso, USA N Lemoine, UK

*2012 Journal Citation Reports Science Edition (Thomson Reuters, 2013)

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Gene Therapy now offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from our FAQs page.

Reviews by top researchers in the field. See the recent Progress and Prospects articles.

Essential topics explored in depth in Gene Therapy Special Issues.

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Gene Therapy - Nature Publishing Group : science journals, jobs ...

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Gene therapy attempts to treat genetic diseases at the molecular level by correcting what is wrong with defective genes. Clinical research into gene therapys safety and effectiveness has just begun. No one knows if gene therapy will work, or for what diseases. If gene therapy is successful, it could work by preventing a protein from doing something that causes harm, restoring the normal function of a protein, giving proteins new functions, or enhancing the existing functions of proteins. How Do You Do It? Gene therapy relies on finding a dependable delivery system to carry the correct gene to the affected cells. The gene must be delivered inside the target cells and work properly without causing adverse effects. Delivering genes that will work correctly for the long term is the greatest challenge of gene therapy.

Human ex vivo Gene Therapy

1986

1989

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Present

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Gene Therapy - A Revolution in Progress: Human Genetics and ...

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Please choose from the following list of questions for information about gene therapy, an experimental technique that uses genetic material to treat or prevent disease.

On this page:

Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patients cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

Replacing a mutated gene that causes disease with a healthy copy of the gene.

Inactivating, or knocking out, a mutated gene that is functioning improperly.

Introducing a new gene into the body to help fight a disease.

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures.

MedlinePlus from the National Library of Medicine offers a list of links to information about genes and gene therapy.

Educational resources related to gene therapy are available from GeneEd.

The Genetic Science Learning Center at the University of Utah provides an interactive introduction to gene therapy.

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Gene Therapy - Genetics Home Reference - National Institutes of Health

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Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patients cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

Replacing a mutated gene that causes disease with a healthy copy of the gene.

Inactivating, or knocking out, a mutated gene that is functioning improperly.

Introducing a new gene into the body to help fight a disease.

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures.

MedlinePlus from the National Library of Medicine offers a list of links to information about genes and gene therapy.

Educational resources related to gene therapy are available from GeneEd.

The Genetic Science Learning Center at the University of Utah provides an interactive introduction to gene therapy.

The Centre for Genetics Education provides an introduction to gene therapy, including a discussion of ethical and safety considerations.

Next: How does gene therapy work?

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What is gene therapy? - Genetics Home Reference

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Gene therapy is the use of DNA as a pharmaceutical agent to treat disease. It derives its name from the idea that DNA can be used to supplement or alter genes within an individual's cells as a therapy to treat disease. The most common form of gene therapy involves using DNA that encodes a functional, therapeutic gene to replace a mutated gene. Other forms involve directly correcting a mutation, or using DNA that encodes a therapeutic protein drug (rather than a natural human gene) to provide treatment. In gene therapy, DNA that encodes a therapeutic protein is packaged within a "vector", which is used to get the DNA inside cells within the body. Once inside, the DNA becomes expressed by the cell machinery, resulting in the production of therapeutic protein, which in turn treats the patient's disease.

Gene therapy was first conceptualized in 1972, with the authors urging caution before commencing gene therapy studies in humans. The first FDA-approved gene therapy experiment in the United States occurred in 1990, when Ashanti DeSilva was treated for ADA-SCID.[1] Since then, over 1,700 clinical trials have been conducted using a number of techniques for gene therapy.[2]

Although early clinical failures led many to dismiss gene therapy as over-hyped, clinical successes since 2006 have bolstered new optimism in the promise of gene therapy. These include successful treatment of patients with the retinal disease Leber's congenital amaurosis,[3][4][5][6]X-linked SCID,[7] ADA-SCID,[8]adrenoleukodystrophy,[9]chronic lymphocytic leukemia (CLL),[10]acute lymphocytic leukemia (ALL),[11]multiple myeloma[12] and Parkinson's disease.[13] These recent clinical successes have led to a renewed interest in gene therapy, with several articles in scientific and popular publications calling for continued investment in the field.[14][15]

In 2012, Glybera became the first gene therapy treatment to be approved for clinical use in either Europe or the United States after its endorsement by the European Commission.[16][17]

Scientists have taken the logical step of trying to introduce genes directly into human cells, focusing on diseases caused by single-gene defects, such as cystic fibrosis, haemophilia, muscular dystrophy, thalassemia, and sickle cell anemia. However, this has proven more difficult than genetically modifying bacteria, primarily because of the problems involved in carrying large sections of DNA and delivering them to the correct site on the gene. Today, most gene therapy studies are aimed at cancer and hereditary diseases linked to a genetic defect. Antisense therapy is not strictly a form of gene therapy, but is a related, genetically mediated therapy.

The most common form of genetic engineering involves the insertion of a functional gene at an unspecified location in the host genome. This is accomplished by isolating and copying the gene of interest, generating a construct containing all the genetic elements for correct expression, and then inserting this construct into a random location in the host organism. Other forms of genetic engineering include gene targeting and knocking out specific genes via engineered nucleases such as zinc finger nucleases, engineered I-CreI homing endonucleases, or nucleases generated from TAL effectors. An example of gene-knockout mediated gene therapy is the knockout of the human CCR5 gene in T-cells to control HIV infection.[18] This approach is currently being used in several human clinical trials.[19]

Gene therapy may be classified into the two following types:

In somatic gene therapy, the therapeutic genes are transferred into the somatic cells (non sex-cells), or body, of a patient. Any modifications and effects will be restricted to the individual patient only, and will not be inherited by the patient's offspring or later generations. Somatic gene therapy represents the mainstream line of current basic and clinical research, where the therapeutic DNA transgene (either integrated in the genome or as an external episome or plasmid) is used to treat a disease in an individual.

In germ line gene therapy, germ cells (sperm or eggs), are modified by the introduction of functional genes, which are integrated into their genomes. Germ cells will combine to form a zygote which will divide to produce all the other cells in an organism and therefore if a germ cell is genetically modified then all the cells in the organism will contain the modified gene. This would allow the therapy to be heritable and passed on to later generations. Although this should, in theory, be highly effective in counteracting genetic disorders and hereditary diseases, some jurisdictions, including Australia, Canada, Germany, Israel, Switzerland, and the Netherlands[20] prohibit this for application in human beings, at least for the present, for technical and ethical reasons, including insufficient knowledge about possible risks to future generations[20] and higher risk than somatic gene therapy (e.g. using non-integrative vectors).[21] The USA has no federal legislation specifically addressing human germ-line or somatic genetic modification (beyond the usual FDA testing regulations for therapies in general).[20]

Gene therapy utilizes the delivery of DNA into cells, which can be accomplished by a number of methods. The two major classes of methods are those that use recombinant viruses (sometimes called biological nanoparticles or viral vectors) and those that use naked DNA or DNA complexes (non-viral methods).

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Gene therapy - Wikipedia, the free encyclopedia

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PORT ST. LUCIE, Fla.--(BUSINESS WIRE)--

Scientists from the medical university Karolinska Institutet (KI), Stockholm, Sweden met with researchers at the Vaccine & Gene Therapy Institute of Florida (VGTI Florida) in Port St. Lucie, Florida for a three-day visit this October. Karolinska Institutet and VGTI scientists discussed opportunities for the development of collaborations between the two organizations to further both institutes research programs.

During the in-depth meetings, the researchers focused on how their respective basic and clinical research capabilities in inflammation, cancer, cardiovascular, and infectious disease research could complement and enhance each other, potentially leading to the development of novel therapeutics for difficult human diseases. Of particular interest is the impact of aging on the functioning of the immune system on disease, and the responses to therapy.

Participants noted that there were many parallels to discuss during the in-depth meetings, and VGTI Florida anticipates return visit from the Karolinska Institutet for a scientific and research topic summit in early February 2014.

We are looking forward to continuing our planning of the upcoming joint symposium we will hold with VGTI Florida, said Karl-Henrik Grinnemo, M.D., Ph.D., Cardiothoracic Surgeon, Department of Molecular Medicine and Surgery at Karolinska Institutet. During the meeting several collaborative projects were discussed, and dialogue regarding KI's presence at VGTI was initiated.

VGTI Florida shared its own considerable expertise in basic science, and described the rapidly growing research capacities located here in South Florida, commented VGTI Director Richard Jove, Ph.D. We also had the opportunity to share the local area and what it can offer with our guests from the Karolinska Institutet. The Karolinska Institutet is one of the worlds leading medical universities.

About VGTI Florida:

The Vaccine & Gene Therapy Institute of Florida (VGTI Florida) is a non-profit 501(c)(3) biomedical research institute dedicated to understanding the roles of our immune system and our genes in disease, as well as the development of innovative treatments. We are in an expansion phase recruiting leading scientists from around the globe to join VGTI Florida where they can work side-by-side targeting infectious disease, cancer, and the impact of an aging immune system. For more information, please visit http://www.VGTIFL.org. VGTI Florida and Translating Research into Health are Registered Trademarks of the Vaccine & Gene Therapy Institute of Florida.

About Karolinska Institutet:

With an overriding mission to contribute to the improvement of human health through research and education, Karolinska Institutet provides more than 40 percent of the medical academic research conducted in Sweden and offers the country s broadest range of education in medicine and health sciences. Many of the discoveries made at Karolinska Institutet have been of great significance, including the pacemaker, the gamma knife, the sedimentation reaction, the Seldinger technique and the preparation of chemically pure insulin. Since 1901 the Nobel Assembly at Karolinska Institutet has selected the Nobel laureates in Physiology or Medicine.

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Five children with a genetic disease that wipes out their immune system have successfully been treated with gene therapy

Editorial: "Gene therapy needs a hero to live up to the hype"

MOST parents dream of a 5-week-old baby who sleeps through the night, but Aga Warnell knew something was wrong. Her baby, Nina, just wasn't hungry in the way her other daughters had been.

Within weeks, Nina became very ill, says her father, Graeme. She was admitted to hospital with a rotavirus infection. Then she picked up pneumonia.

It turned out Nina had a condition called severe combined immunodeficiency (SCID). She had been born without an immune system due to a genetic defect. It is also known as "bubble boy" disease, since people affected have to live in a sterile environment. "The doctors said 'you need to prepare yourself for the fact that Nina probably isn't going to survive'," says Graeme.

A year-and-a-half later, Nina is a happy little girl with a functioning immune system. She has gene therapy and its latest improvements to thank for it.

SCID was the first condition to be treated with gene therapy more than 20 years ago. A virus was used to replace a faulty gene with a healthy one. But in subsequent trials, four young patients were diagnosed with leukaemia two years after receiving a similar treatment. An 18-year-old also died following a reaction to a virus used in gene therapy for a liver condition. It was the start of a rocky road (see "Trials and tribulations of gene therapy").

Gene therapy has come a long way since, and Nina's case, along with others, mark a turning point: researchers seem to have found a safer way of manipulating our genes.

Preliminary results for the first two children to receive the improved SCID gene therapy 18 months ago were presented at the European Society of Gene and Cell Therapy conference in Madrid, Spain, last week. The children's immune systems have continued to improve since receiving the treatment, says Bobby Gaspar of Great Ormond Street Hospital in London, who led the trial.

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'Bubble kid' success puts gene therapy back on track

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A modified version of the virus that causes AIDS could be the unlikely saviour of a promising treatment for a host of deadly diseases

IN TECHNOLOGY, it is called the hype cycle: what initially seems a promising breakthrough leads to inflated expectations until it becomes clear that a great deal of time, money and effort will be needed to realise that promise. Disillusionment sets in until the first real successes are reported, and then the hype is on again.

So it has gone with gene therapy. When, in the late 1980s, the genes for debilitating inherited diseases began to be identified, many believed that cures were within reach, by replacing the faulty genes with working ones. But getting the right gene into the right place without doing more harm than good proved tricky. Now, 23 years after the first gene therapy trial for a rare immune disease called ADA-SCID, researchers finally have some successes to report (see "'Bubble kid' success puts gene therapy back on track").

Still, a major barrier remains: cost. The first gene therapy drug to be approved for clinical use, to treat a pancreatic disease, is also the world's most expensive drug. At the moment, the production of modified viruses the vectors used to shuttle genes into a person's cells is prohibitively expensive, meaning only a handful of those with the diseases in question can be treated.

Pharmaceutical companies may have the means and know-how to scale up production, but inherited genetic diseases are not common. So the industry has been reluctant to invest in treatments for them, preferring instead to channel cash towards bigger killers like cancer.

By a stroke of fortune, a promising form of cancer treatment relying on immunotherapy uses the same viral vector that gene therapists are working on to treat diseases like SCID: a modified version of the virus that causes HIV. Some 700 trials using this kind of safer vector are under way, treating a range of degenerative and immune disorders.

It may seem ironic that a virus that has killed so many holds the potential to yield a cure for a host of other deadly diseases, but such is scientific progress: it comes from unexpected places. That should give fresh grounds for the pharma industry to look again at gene therapy. With a bit of ingenuity and effort, gene therapy might finally live up to the hype.

Correction: When this article was first published on 30 October 2013, the strap and standfirst confused HIV and AIDS.

This article appeared in print under the headline "Live up to the hype"

If you would like to reuse any content from New Scientist, either in print or online, please contact the syndication department first for permission. New Scientist does not own rights to photos, but there are a variety of licensing options available for use of articles and graphics we own the copyright to.

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Gene therapy needs a hero to live up to the hype

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By Chris Reidy/Globe Staff/October 31, 2013

Fidelity Biosciences, a venture capital firm that is a subsidiary of the parent company of Fidelity Investments, and REGENX Biosciences announced the formation of Dimension Therapeutics, a Cambridge-based gene therapy company focused on developing novel treatments for rare diseases such as hemophilia.

Dimension has completed an undisclosed Series A financing led by Fidelity Biosciences.

In conjunction with its launch, Dimension has entered into an exclusive license and collaboration with REGENX. Through that arrangement, Dimension has acquired preferred access toNAVvector technology and rights in REGENX product programs in multiple rare disease indications.

Gene therapy is a fundamental method of disease intervention, changing a patients genetic code to treat genetic disease, and in some cases providing a potential lifelong benefit following a single treatment, Thomas R. Beck, MD, executive partner at Fidelity Biosciences and interim chief executive of Dimension Therapeutics, said in a statement. A core challenge for gene therapy has been the development of safe, efficient vectors to enable delivery of the replacement gene to the correct cells and tissues of the patient to yield benefit. We believe REGENXNAVvectors are the most promising approach forin vivogene therapy and represent the potential for transformative therapy for patients.

Copyright 2013 Globe Newspaper Company.

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Fidelity Biosciences helps launch company focused on gene therapy products

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CAMBRIDGE, MASS. & WASHINGTON--(BUSINESS WIRE)--

Fidelity Biosciences and REGENX Biosciences today announced the formation of Dimension Therapeutics, a gene therapy company focused on developing novel treatments for rare diseases. Dimension will focus on advancing its platform of gene therapy programs in rare diseases through clinical development, starting with lead programs in hemophilia, and building out a world-class product engine for AAV therapeutics. Dimension has completed an undisclosed Series A financing led by Fidelity Biosciences.

In conjunction with its launch, Dimension has entered into an exclusive license and collaboration with REGENX. REGENX holds exclusive rights to a portfolio of over 100 patents and patent applications pertaining to its NAV vector technology that includes novel AAV vectors such as rAAV7, rAAV8, rAAV9, and rAAVrh10. Through its license and collaboration with REGENX, Dimension has acquired preferred access to NAV vector technology and rights in REGENX product programs in multiple rare disease indications.

Gene therapy is a fundamental method of disease intervention, changing a patients genetic code to treat genetic disease, and in some cases providing a potential lifelong benefit following a single treatment, said Thomas R. Beck, M.D., executive partner at Fidelity Biosciences and interim chief executive officer of Dimension Therapeutics. A core challenge for gene therapy has been the development of safe, efficient 'vectors' to enable delivery of the replacement gene to the correct cells and tissues of the patient to yield benefit. We believe REGENX NAV vectors are the most promising approach for in vivo gene therapy and represent the potential for transformative therapy for patients.

Dimension has assembled a team of leaders in the areas of rare disease and gene therapy as well as industry veterans and experienced entrepreneurs. The company has appointed Dr. Beck as interim chief executive officer and Sam Wadsworth, Ph.D., as chief scientific officer. Dr. Wadsworth was previously head of gene therapy research and development at Genzyme, where he led preclinical development for multiple rare disease and gene therapy programs.

The companys scientific advisors are leading experts in the field of gene therapy and rare disease. Dr. James Wilson, director of the gene therapy program at the University of Pennsylvania and the scientific founder of REGENX, will chair the companys Scientific and Technical Advisory Board. NAV vector technology was discovered in the laboratory of Dr. Wilson at the University of Pennsylvania. Other advisors to Dimension include Emil D. Kakkis, M.D., Ph.D., president and chief executive officer of Ultragenyx, a leading rare disease company, and former chief medical officer of Biomarin.

Ben Auspitz, partner at Fidelity Biosciences, has been appointed chairman of the Board of Dimension, and will be joined by directors Allan M. Fox, founding and managing partner of FOXKISER, the entrepreneurial force behind REGENX; Donald J. Hayden, an experienced pharmaceutical executive and the chairman of REGENX; and Dr. Beck.

In parallel to the formation of Dimension, Fidelity Biosciences has also made a direct investment into REGENX, with Mr. Auspitz joining the REGENX Board.

We are pleased to work with Fidelity to establish a new best-in-class company in AAV gene therapy that has the opportunity to invest in the focused development of multiple important rare diseases, including hemophilia, said Ken Mills, president and chief executive officer of REGENX. We view the formation of Dimension as important in the evolution of REGENXs mission to enable access to NAV vector technology through partnership and licensing to create successful new AAV therapeutics.

About Fidelity Biosciences

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Fidelity Biosciences and REGENX Biosciences Launch Dimension Therapeutics to Develop and Commercialize Novel AAV Gene ...

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Dimension Therapeutics wants to develop a lifetime fix for hemophilia using gene therapy.

On Thursday, another gene therapy start-up announced its launch. Dimension Therapeutics hopes to develop virus-delivered gene treatments for rare diseases and its first target is the blood-clotting disorder hemophilia.

The announcement comes just a week after the launch of another gene therapy start up, Spark Therapeutics (see New Gene Therapy Company Launches). One reason that the dashed hopes of gene therapy seem to be mending is that researchers have improved the technologies for delivering genetic fixes. Functional copies of genes are carried by modified viruses, or vectors, into the cells of patients who have missing or dysfunctional copies of those genes. Many groups use vectors based on adeno-associated viruses, or AAVs, which live in most of our bodies already to no ill effect.

Dimension has licensed AAV technology from Washington, D.C.,-based Regenx Biosciences, a company founded by gene therapy pioneer James Wilson. Wilson headed the University of Pennsylvania institute that oversaw a gene therapy trial in 1999 that ended with the death of Jesse Gelsinger, an 18-year-old trial volunteer (see The Glimmering Promise of Gene Therapy). Gelsingers death was blamed on an immune reaction to the experimental therapys viral vector.

That trial used a different kind of virus and since its tragic end, Wilson had searched for better vectors, which he found in AAVs. According to Wired, Wilsons original AAV, AAV1, was the basis for the first gene therapy to be approved in a Western market (see Gene Therapy on the Mend as Treatment Gets Western Approval). Spark Therapeutics is also using a type of AAV to deliver its treatments.

Wilson and his team have since discovered and developed hundreds of modified AAVs, which can target different organs in the body but have been stripped of their ability to replicate. Regenx licensed several vectors to Dimension. A release announcing Dimensions launch suggests that it was Regenx technology that inspired confidence from venture capital firm Fidelity Biosciences to fund the new company:

A core challenge for gene therapy has been the development of safe, efficient vectors to enable delivery of the replacement gene to the correct cells and tissues of the patient to yield benefit, said Fidelity partner and interim CEO of Dimension Thomas Beck. We believe Regenex [vectors] are the most promising approach for in vivo gene therapy.

An early-stage trial of a Regenx vector carrying the gene missing from certain hemophilia patients showed it could correct the disorder (four of the six trial participants were able to quit taking their prophylactic clotting medication) with few side-effects, reported researchers in 2011. The modified virus vectors can still attract the attention of the immune system, but the medical researchers were able to control the immune reaction with immunosuppressive drugs.

While many gene therapy researchers and companies use AAV technology, there are some exceptions. Bluebird Bio, for instance, uses an attenuated version of an HIV viruses that cannot replicate. Bluebird is recruiting patients for alate-stage trial of a gene therapy for a hereditary form of childhood neurodegeneration.

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/kn8z7q/china_food_safety) has announced the addition of the "China Food Safety Testing Industry Report, 2013-2015" report to their offering.

China food safety testing industry started from testing of agricultural and livestock products in the early 1900s. With the issuance of Chinese food safety related laws and regulations as well as the enhancement of food safety supervision, China food safety testing industry has developed rapidly. In 2009-2012, China food safety testing market grew at the average annual growth rate of 20%. In 2012, the market value hit RMB4.01 billion, reflecting a year-on-year increase of 11.1%. And the figure is expected to be RMB4.411 billion in 2013.

Key Topics Covered

1 Overview of Food Safety Testing Industry

1.1 Definition and Classification

1.2 Industry Chain

2 Operating Environments of Chinese Food Safety Testing

2.1 Policy

2.2 International Market

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Research and Markets: China Food Safety Testing Industry Report, 2013-2015

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PUBLIC RELEASE DATE:

29-Oct-2013

Contact: Dr. Hongbin Zhang hbz7049@tamu.edu 979-862-2244 Texas A&M AgriLife Communications

COLLEGE STATION A new study by Texas A&M University cotton researchers and breeders will take advantage of new high-throughput sequencing technology to rapidly advance cotton genetics research and breeding.

Their goal: maintain U.S. cotton's competitiveness in the world cotton market, according to Dr. Hongbin Zhang, professor of plant genomics and systems biology and director of the Laboratory for Plant Genomics and Molecular Genetics in College Station.

The three-year, $500,000 National Institute for Food and Agriculture-funded study, will be conducted by Zhang, along with Dr. Meiping Zhang, Texas A&M AgriLife Research associate research scientist; Dr. C. Wayne Smith, Texas A&M professor of cotton breeding and soil and crop sciences associate department head, and Dr. Steve Hague, associate professor of cotton genetics and breeding in the Texas A&M AgriLife Research Cotton Improvement Lab.

"Cotton is the leading textile fiber and a major bioenergy oilseed crop in Texas and the U.S., with an annual economic impact of about $120 billion in the U.S.," Zhang said.

"In our previous studies, we have already constructed the first genome-wide physical map of Upland cotton, which accounts for more than 90 percent of the cotton in Texas and the U.S." he said. "We are also using the physical map as a platform to sequence the cotton genome."

Also, they previously developed a population of 1,172 recombinant inbred lines that are essential to fine map the cotton genome and genes of economic importance for fiber and oilseed production, Zhang said.

They phenotyped seven of the traits important for fiber quality and yield in 200 of those lines and their parents using three replicated field trials for three years at College Station. The researchers then sequenced and profiled the gene expressions in the developing fibers of those lines, Zhang said.

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PUBLIC RELEASE DATE:

30-Oct-2013

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, October 30, 2013The repair of ruptured tendons often requires the use of a graft to bridge gaps between the torn tendon and bone. A tissue-engineered collagen graft can reduce the complications associated with other types of tendon grafts, but it may not be able to support full load bearing until integrated into the surrounding tissue. A new suture technique designed to support this tissue-engineered tendon is described in BioResearch Open Access, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the BioResearch Open Access website.

The article "Development of a Surgically Optimized Graft Insertion Suture Technique to Accommodate a Tissue-Engineered Tendon In Vivo" presents an innovative interlocking suture technique that distributes suture tension away from the cut end of the injured tendon provides adequate mechanical strength to allow for weight bearing as healing progresses.

Coauthors Prasad Sawadkar et al., University College London and University of Manchester, UK, describe the suture technique and present the results of mechanical stress tests and image analysis of tendons repaired using either standard graft insertion methods or their novel suture technique. "We now have ex vivo proof of concept that this suture technique is suitable for testing in vivo, and this will be the next stage of our research," state the authors.

"Advances in tendon repair and bioengineering are essential for improved management and outcomes of tendon injuries," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland. "This article shows exciting 'proof of concept' ex vivo data, which will be useful for improving current tendon repair techniques."

###

About the Journal

BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMedCentral. All journal content is available on the BioResearch Open Access website.

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Novel technique for suturing tissue-engineered collagen graft improves tendon repair

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October 30, 2013 Sophie Langley

Using genetic engineering, scientists at the University of Washington have identified a population of neurons that tell the brain to shut off appetite.

The study, published on 13 October 2013 in the journal Nature, considered what might make an animal lose its appetite. Researchers said there are a number of natural reasons, including infection, nausea, pain or simply having eaten too much.

Nerves within the gut that are distressed or insulated send information to the brain through the vagus nerve. Appetite is suppressed when these messages activate specific neurons ones that contain calcitonin gene-related peptide (CGRP) in a region of the brain called parabrachial nucleus.

Study method

In mouse trials, the researchers used genetic techniques and viruses to introduce light-activatable proteins into CGRP neurons. Activation of these proteins excites the cells to transmit chemical signals to other regions of the brain. When they activated the CGRP neurons with a laser, the hungry mice immediately lost their appetite and walked away from their liquid diet; when the laser turned off, the mice resumed drinking the liquid diet.

These results demonstrate that activation of the CGRP-expressing neurons regulates appetite, said Richard Palmiter, Professor of Biochemistry at the University of Washington and Investigator of the Howard Hughes Medical Institute. This is a nice example of how the brain responds to unfavourable conditions in the body, such as nausea caused by food poisoning, he said.

Using a similar approach, neurons in other brain regions have been identified that can stimulate the appetite of mice that are not hungry. Researchers said they hoped to identify the complete neural circuit (wiring diagram) in the brain that regulates feeding behaviour. By identifying these neural circuits, researchers said scientists may be able to design therapies that promote or decrease appetite.

The study was conducted by Matthew E. Carter in Richard Palmiters laboratory and Marta E. Soden in Larry S. Zweifels (Assistant Professor of Pharmacology at the University of Washington) laboratory. Funding for the research was provided by the Davis Foundation, the Klarman Family Foundation, the Howard Hughes Institute and the National Institutes of Health.

Brain circuit responsible for appetite suppression identified

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Scientists discover neural circuit responsible for appetite suppression

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