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Gene Variant That Boosts UV Protection Also Raises Risk For Cancer

"The genetic risk factor we identified is associated with one of the largest risks ever reported for cancer," author Douglas Bell, a researcher at the National Institute of Environmental Health Sciences at the National Institutes of Health, said in a statement. (Bell is currently on furlough thanks to the federal government shutdown and could not discuss his research in an interview.)

Bell and his colleagues reported their find in the journal Cell on Thursday.

"We think it might prove useful for identifying individuals at the highest risk for cancer or who might benefit from preventive or therapeutic treatments, Bell says.

The gene in question is a binding site made for a protein called p53, which is an important genetic master switch, binding to DNA and regulating the cell division cycle and suppressing tumors when it works properly, that is. Mutations in p53 are implicated in a wide range of cancers, so Bell and his colleagues were interested in examining mutations in other parts of the p53 signaling chain.

Bell and his team were led to this particular mutation by what are called genome-wide association studies. In these kinds of studies, scientists compare the genomes of people with a certain trait, like cancer, to the genomes of people without the trait. If they see that a certain gene tends to crop up more often amongst the people with the trait, they may says the gene is associated with that trait.

In this study, the researchers zoomed in on a p53-binding region in a gene called KITLG. When UV radiation hits a persons skin, it induces a signaling chain involving both the KITLG gene and p53, eventually marshaling the melanin-producing cells that trigger a tanning response. KITLG activation by p53 also turns out to be important for cancer-related cell proliferation.

Normally, evolution might be expected to weed out the p53 binding site mutation, but in this case, in lighter-skinned people the protection from UV radiation proved more urgent a need than cutting cancer risk down the line. Its not uncommon in nature to see some trade-offs that boosts short-term survival or reproductive ability in exchange for reduced fitness down the line.

"It seems that over the long course of human evolution, the trade-off might have worked well enough to boost the frequency of the [mutation], especially in the European Caucasian population," coauthor and University of Oxford researcher Gareth Bond said in a statement. "I'd speculate that serious sun damage to skin would have posed a mortal threat to our early ancestors."

SOURCE: Zeron-Medina et al. A Polymorphic p53 Response Element in KIT Ligand Influences Cancer Risk and Has Undergone Natural Selection. Cell 155: 410 422, 10 October 2013.

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Transgenics – Genetic Engineering in Geek Fiction: Kiriosity with Kiri Callaghan – Video


Transgenics - Genetic Engineering in Geek Fiction: Kiriosity with Kiri Callaghan
Kiri #39;s latest geek philosophy vlog explores the abundance of transgenics and gene therapy in geek fiction, some of its advances in the world around us and wh...

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Genetic Variant Increases Testicular Cancer Risk Also Evolved To Protect Light Skin

October 11, 2013

Brett Smith for redOrbit.com Your Universe Online

Using a genomic analysis, a team of international researchers has identified a specific mutation responsible for a dramatic increase in the risk for testicular cancer.

The mutation is a single-base change to the genetic code that affects the activity of the p53 protein that is responsible for regulating the activity of a large number of genes, including those responsible for protection from UV rays according to the teams report in the journal Cell.

Knowing the inherited genetics of cancer has great potential in medicine, said study author Gareth Bond, a researcher at Oxford Universitys Ludwig Institute for Cancer Research. It can aid the development of tests to predict the risk of developing particular malignancies. It can also tell physicians about the likely prognosis of cancers, and inform therapeutic choices, improving management of the disease.

About half of all cancers are affiliated with mutations in the p53 gene. Because the p53 protein activates a wide range of cancer-related signaling pathways, the study team hypothesized that cancer risk could be linked to genetic variations for p53-binding sites.

The single-based change, known as a single nucleotide polymorphism (SNP), was discovered after the team analyzed genetic databases containing nearly 63,000 SNPs in search of mutations that affect p53s ability to turn on its target genes. The researchers were able to find one particular mutation that is very strongly linked to the risk of developing testicular cancer.

The SNP was found in the genetic code for a p53 response element that codes for a protein named KIT ligand (KITLG).

It appears that this particular variant permits testicular stem cells to grow in the presence of DNA damage, when they are supposed to stop growing, since such damage can lead to cancer, said study author Douglas Bell of the US National Institute of Environmental Health Sciences.

Next, the team performed an evolutionary genomic analysis that revealed that other SNPs that alter p53s ability to bind its receptors have been lost by natural selection. The KITLG mutation not only slipped through the cracks, it has been positively selected in the Caucasian gene pool.

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Genetic Variant Increases Testicular Cancer Risk Also Evolved To Protect Light Skin

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CellScape to Sponsor Educational Workshop at National Society of Genetic Counselors' Annual Education Conference

NEWARK, Calif., Oct. 10, 2013 (GLOBE NEWSWIRE) -- CellScape Corp, a molecular diagnostics company developing the first noninvasive prenatal genetic test using fetal cells from maternal blood, today announced that it is supporting a workshop with leading experts in the field of prenatal testing at the upcoming National Society of Genetic Counselors (NSGC) 32nd Annual Education Conference (AEC). The session, "Comprehensive Prenatal Genetic Testing: Is Chromosomal Microarray Analysis the New Standard?", will take place Friday, October 11, 2013 at 7:00 AM PT at the Anaheim Convention Center in Anaheim, California.

"Options for prenatal diagnostic testing continue to evolve as new technologies including chromosomal microarray analysis (CMA) become available. A recent study supported by the National Institute of Child Health and Human Development (NICHD) has validated the utility of CMA in providing more information than the current standard of karyotype analysis," said Ted Snelgrove, Chief Executive Officer, CellScape. "In response to needs expressed by genetic counselors, we are pleased to support this educational session to examine the benefits and challenges of implementing CMA as a prenatal test."

The speakers scheduled to participate include Mary Norton, MD, FACMG, FACOG, Professor and Vice Chair for Clinical and Translational Genetics in the Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco; Christa Lese Martin, PhD, FACMG, Director and Senior Investigator, Autism and Developmental Medicine Institute at Geisinger Health System; and Andy Faucett, MS, CGC, Director of Policy and Education for the Office of the Chief Scientific Officer at Geisinger Health System.

Dr. Norton will provide an overview of the recent changes in both invasive and noninvasive prenatal testing and will review the impact on clinical care resulting from the additional information provided by chromosomal microarray analysis.

Dr. Martin, co-author of the recent landmark NICHD study published in 2012 will review the study's findings that showed that chromosomal microarray analysis has a higher diagnostic yield than karyotyping for prenatal diagnosis. Lastly, Mr. Faucett, an experienced board-certified genetic counselor will outline the key issues and concerns in counseling for prenatal arrays.

About the National Society of Genetic Counselors (NSGC)

NSGC is the leading voice, authority and advocate for the genetic counseling profession, representing more than 2,900 health professionals. The organization is committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit http://www.nsgc.org.

NSGC's AEC provides the latest information for the genetic counseling profession and addresses a wide variety of practice areas with diverse education sessions specifically designed for genetic counselors and genetic professionals.

About CellScape Corporation

CellScape Corporation is an innovative molecular diagnostics company developing a more comprehensive and safe prenatal testing solution for women. CellScape's proprietary Fetal Cell Technology enables it to isolate fetal cells specific to a woman's current pregnancy from a simple maternal blood draw. By isolating these cells, CellScape can access the pure and complete fetal genome. CellScape's first product in development, Clarity(TM) Prenatal Genetic test, will use targeted Chromosomal Microarray Analysis (CMA) to detect prenatally relevant cytogenetic abnormalities. For additional information, please visit http://www.cellscapecorp.com.

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CellScape to Sponsor Educational Workshop at National Society of Genetic Counselors' Annual Education Conference

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The Genetics of Thiopurine Response – Video


The Genetics of Thiopurine Response

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Seattle Genetics Reports ADCETRIS Data In Frontline Setting On Hodgkin Lymphoma

By RTT News, October 11, 2013, 09:12:00 AM EDT

(RTTNews.com) - Seattle Genetics Inc. ( SGEN ) highlighted multiple ADCETRIS data presentations at the 9th International Symposium on Hodgkin Lymphoma or ISHL being held October 12-15, 2013 in Cologne, Germany.

ADCETRIS, an antibody-drug conjugate directed to CD30, which is expressed in classical Hodgkin lymphoma or HL and systemic anaplastic large cell lymphoma or sALCL, was granted accelerated approval by the U.S. Food and Drug Administration or FDA in August 2011 for relapsed HL and sALCL and conditional marketing authorization by the European Commission in October 2012 for relapsed or refractory HL and sALCL.

Jonathan Drachman, M.D., Chief Medical Officer and Executive Vice President, Research and Development at Seattle Genetics said, "In addition, we are evaluating ADCETRIS broadly in more than 20 ongoing clinical trials, including four global phase 3 trials in earlier lines of therapy for HL and mature T-cell lymphoma, as well as relapsed cutaneous T-cell lymphoma. Our goal is to establish ADCETRIS as the foundation of therapy for CD30-positive malignancies and improve the therapeutic outcome for patients."

Three oral and nine poster presentations at ISHL illustrate the broad clinical development program for ADCETRIS in HL, including data from a phase 1 frontline advanced HL trial and a poster presentation describing the ongoing global phase 3 ECHELON-1 clinical trial in frontline HL. Currently, ADCETRIS is not approved to treat newly diagnosed HL.

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Seattle Genetics Highlights ADCETRIS® (Brentuximab Vedotin) Clinical Data in the Frontline Setting at the …

BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today highlighted multiple ADCETRIS (brentuximab vedotin) data presentations at the 9th International Symposium on Hodgkin Lymphoma (ISHL) being held October 12-15, 2013 in Cologne, Germany. ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30, which is expressed in classical Hodgkin lymphoma (HL) and systemic anaplastic large cell lymphoma (sALCL). ADCETRIS was granted accelerated approval by the U.S. Food and Drug Administration (FDA) in August 2011 for relapsed HL and sALCL and conditional marketing authorization by the European Commission in October 2012 for relapsed or refractory HL and sALCL.

Since the last ISHL meeting in 2010, we have made significant progress in advancing ADCETRIS, including approvals in 35 countries to date for the treatment of relapsed HL and sALCL, said Jonathan Drachman, M.D., Chief Medical Officer and Executive Vice President, Research and Development at Seattle Genetics. In addition, we are evaluating ADCETRIS broadly in more than 20 ongoing clinical trials, including four global phase 3 trials in earlier lines of therapy for HL and mature T-cell lymphoma, as well as relapsed cutaneous T-cell lymphoma. Our goal is to establish ADCETRIS as the foundation of therapy for CD30-positive malignancies and improve the therapeutic outcome for patients.

Three oral and nine poster presentations at ISHL illustrate the broad clinical development program for ADCETRIS in HL, including data from a phase 1 frontline advanced HL trial and a poster presentation describing the ongoing global phase 3 ECHELON-1 clinical trial in frontline HL. ADCETRIS is currently not approved for use in the treatment of newly diagnosed HL.

Frontline HL Data Presentations: Corporate-sponsored Trials

Frontline Therapy with Brentuximab Vedotin Combined with ABVD or AVD in Patients with Newly Diagnosed Advanced Stage Hodgkin Lymphoma, (P005) by Dr. Stephen Ansell, Professor of Medicine, Division of Hematology, Mayo Clinic

This phase 1 trial was conducted to evaluate ADCETRIS plus the chemotherapy regimen ABVD (Adriamycin, bleomycin, vinblastine and dacarbazine) or ADCETRIS plus AVD, which removes bleomycin, for the treatment of newly diagnosed advanced stage HL patients.

After completing a combination regimen of ADCETRIS plus AVD, 24 of 25 patients (96 percent) achieved a complete remission. Among the patients in the ADCETRIS plus ABVD cohorts, 21 of 22 patients (95 percent) who completed frontline therapy on study achieved a complete remission. The most common adverse events of any grade occurring in more than 30 percent of patients across both treatment regimens were hair loss, constipation, diarrhea, fatigue, insomnia, nausea, neutropenia, peripheral sensory neuropathy, fever and vomiting. As previously reported, pulmonary toxicity was seen in the ADCETRIS plus ABVD cohorts, resulting in a contraindication for the concomitant administration of ADCETRIS and bleomycin. No pulmonary toxicity was observed in the ADCETRIS plus AVD cohort.

These data support the enrollment of the ongoing global phase 3 ECHELON-1 trial. The design of the phase 3 trial will be described in a presentation at ISHL, titled Phase 3 Study of Brentuximab Vedotin Plus Doxorubicin, Vinblastine and Dacarbazine (A+AVD) vs Doxorubicin, Bleomycin, Vinblastine and Dacarbazine (ABVD) as Front-line Treatment for Advanced Classical Hodgkin Lymphoma (HL): The ECHELON-1 Study, (P017) by Dr. John Radford, Professor of Medical Oncology, University of Manchester. Visit http://www.clinicaltrials.org for more information about ECHELON-1.

Frontline HL Data Presentations: Investigator-sponsored Trials

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[Seminar introduction] Stem cell therapy for cerebral palsy – Video


[Seminar introduction] Stem cell therapy for cerebral palsy
Cerebral palsy is a non-treatable neurologic disability where only conservative therapy has been practiced so far. Professor Minyoung Kim will present a brea...

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Personalized Medicine Fidelity Investments Thinking Big – Video


Personalized Medicine Fidelity Investments Thinking Big
Pharmacogenomics.

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Inspirational small business success story.Spinal cord injury leads to small business success. – Video


Inspirational small business success story.Spinal cord injury leads to small business success.
inspirational small business success story. Marilyn Hamilton broke her back and created a multimillion dollar business provided lightweight and maneuverable ...

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Circadian rhythms in skin stem cells protect us against UV rays

Public release date: 10-Oct-2013 [ | E-mail | Share ]

Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press

Human skin must cope with UV radiation from the sun and other harmful environmental factors that fluctuate in a circadian manner. A study published by Cell Press on October 10th in the journal Cell Stem Cell has revealed that human skin stem cells deal with these cyclical threats by carrying out different functions depending on the time of day. By activating genes involved in UV protection during the day, these cells protect themselves against radiation-induced DNA damage. The findings could pave the way for new strategies to prevent premature aging and cancer in humans.

"Our study shows that human skin stem cells posses an internal clock that allows them to very accurately know the time of day and helps them know when it is best to perform the correct function," says study author Salvador Aznar Benitah an ICREA Research Professor who developed this project at the Centre for Genomic Regulation (CRG, Barcelona), and who has recently moved his lab to the Institute for Research in Biomedicine (IRB Barcelona). "This is important because it seems that tissues need an accurate internal clock to remain healthy."

A variety of cells in our body have internal clocks that help them perform certain functions depending on the time of day, and skin cells as well as some stem cells exhibit circadian behaviors. Benitah and his collaborators previously found that animals lacking normal circadian rhythms in skin stem cells age prematurely, suggesting that these cyclical patterns can protect against cellular damage. But until now, it has not been clear how circadian rhythms affect the functions of human skin stem cells.

To address this question, Benitah teamed up with his collaborators Luis Serrano and Ben Lehner of the Centre for Genomic Regulation. They found that distinct sets of genes in human skin stem cells show peak activity at different times of day. Genes involved in UV protection become most active during the daytime to guard these cells while they proliferatethat is, when they duplicate their DNA and are more susceptible to radiation-induced damage.

"We know that the clock is gradually disrupted in aged mice and humans, and we know that preventing stem cells from accurately knowing the time of the day reduces their regenerative capacity," Benitah says. "Our current efforts lie in trying to identify the causes underlying the disruption of the clock of human skin stem cells and hopefully find means to prevent or delay it."

###

Cell Stem Cell, Janich et al.: "Human epidermal stem cell function is regulated by circadian oscillations."

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[Seminar series] Stem cell therapy for cerebral palsy, Introduction – Video


[Seminar series] Stem cell therapy for cerebral palsy, Introduction
Cerebral palsy is a non-treatable neurologic disability where only conservative therapy has been practiced so far. Professor Minyoung Kim will present a brea...

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Research and Markets: Cancer Symptoms Partnering 2007-2013

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/wldhng/cancer_symptoms) has announced the addition of the "Cancer Symptoms Partnering 2007-2013" report to their offering.

The Cancer Symptoms Partnering 2007-2013 report provides understanding and access to the cancer symptoms partnering deals and agreements entered into by the worlds leading healthcare companies.

The Solid Tumor Cancer Partnering 2007-2013 provides understanding and access to the solid tumor cancer partnering deals and agreements entered into by the worlds leading healthcare companies.

This report provides details of the latest cancer symptoms agreements announced in the healthcare sectors, covering:

Report scope

Cancer Symptoms Partnering 2007-2013 is intended to provide the reader with an in-depth understanding and access to cancer symptoms trends and structure of deals entered into by leading companies worldwide.

This data driven report includes:

In Cancer Symptoms Partnering 2007-2013, the available deals are listed by:

Key Topics Covered:

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Research and Markets: Cancer Symptoms Partnering 2007-2013

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Dr. Lynn Megeney’s research on heart thickness cutting edge

OTTAWA Growing up in Stellarton, Dr. Lynn Megeney didnt really know what a scientist was or did.

Dr. Lynn Megeney, originally of Stellarton, discovered that proteins involved in cell death also play a key role in abnormal heart muscle thickening. The scientist, who obtained his undergrad at St. FX, conducted his research at Ottawa Hospital Research Institute and the University of Ottawa. SUBMITTED

Years later however, Megeney, now a scientist, is making advances in important aspects of cardiology.

While most people would consider a big heart to be a good thing, for heart disease experts, it is often a sign of serious disease. Megeney made the surprising discovery at the Ottawa Hospital Research Institute and the University of Ottawa. He discovered that proteins involved in cell death also play a key role in abnormal heart muscle thickening.

The research, published in the Oct. 7, 2013, online edition of Proceedings of the National Academy of Sciences (PNAS), could lead to new treatments for certain forms of heart disease.

Heart muscle thickening, called cardiac hypertrophy, can be a healthy response to exercise and pregnancy, said Megeney. However, it often occurs in people with high blood pressure, diabetes, heart failure and certain genetic conditions.

In these people, roughly 15 per cent of the population, the heart can easily grow twice as large as normal due to an increase in the size of individual heart muscle cells. Too much growth can lead to increased stiffness and reduced blood supply, and eventually reduced pumping function and heart failure.

Several years ago, Megeney noticed that heart muscle cells undergoing this kind of abnormal growth had many similarities with cells that are beginning to undergo an orderly form of cell suicide called programmed cell death. In the current research paper, Megeney and his team show that blocking the proteins that control this form of cell death also blocks abnormal heart muscle thickening.

Megeney and his team exposed rats to a number of different drugs that each induce abnormal heart muscle thickening. The rats were then given a form of experimental gene therapy to block cell suicide proteins in the heart. Three weeks later, the rats that received the experimental therapy had much smaller heart muscle cells (37 per cent smaller than those that did not receive the therapy), and smaller hearts overall. In fact, the disease model rats that received the experimental therapy seemed just as healthy as normal rats.

Our research shows, for the first time, that heart muscle cells use the same molecular machinery for unhealthy growth as they would use to commit suicide, said Megeney. This may seem quite surprising to some people, but it fits with a growing body of research showing that cell death proteins can play many other roles in the body.

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'Pouchitis' after ulcerative colitis surgery linked to changes in gene expression

Public release date: 10-Oct-2013 [ | E-mail | Share ]

Contact: Connie Hughes connie.hughes@wolterskluwer.com 646-674-6348 Wolters Kluwer Health

Philadelphia, Pa. (October 10, 2013) "Pouchitis" developing after surgery for ulcerative colitis (UC) is associated with changes in gene expression, which increase along with disease severity, reports a study in Inflammatory Bowel Diseases, official journal of the Crohn's & Colitis Foundation of America (CCFA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

"Gene alterations in pouch inflammation and Crohn's disease overlap, suggesting that inflammatory bowel disease is a spectrum, rather than distinct diseases," according to the new research by Dr S. Ben Shachar and colleagues of Tel Aviv University, Israel. They believe the occurrence and progression of gene changes in previously normal intestine after UC surgery provides a useful model for studying the development of inflammatory bowel disease (IBD).

After UC Surgery, Gene Expression Changes in Patients with "Pouchitis"

The researchers analyzed gene expression changes in different groups of patients who had undergone "pouch" surgery for UC. In this procedure (restorative proctocolectomy), the entire large intestine is removed and a portion of small intestine (the ileum) is used to create a reservoir, or pouch, to restore bowel function.

Up to one-fourth of patients with UC need surgery because of unmanageable disease or complications. Surgery is effective, but has a substantial rate of complicationsespecially the development of inflammation in the newly created pouch, called pouchitis.

By definition, the small intestine is normal in UCin contrast to Crohn's disease (CD), which can affect any part of the gastrointestinal tract. The development of pouchitis after UC surgery thus provides an opportunity to study the "molecular events" associated with the development of IBD in previously normal tissue.

The researchers found no significant changes in gene expression in normal samples of ileum from patients with UC. In contrast, in patients who had undergone UC surgery, nearly 170 significant changes in gene expression were found in samples of tissue from the surgically created poucheven though the tissue still appeared normal.

In patients who had developed inflammation and other signs of pouchitis, the number of gene abnormalities increased to nearly 500. For those who progressed to develop "Crohn's-like" changes of the pouch tissue, the number of gene abnormalities increased to well over 1,000. Thus as the severity of pouch disease increased, so did the number of gene expression changes.

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'Pouchitis' after ulcerative colitis surgery linked to changes in gene expression

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Previously Unstudied Gene Is Essential for Normal Nerve Development

Newswise October 10, 2013 (BRONX, NY) Our ability to detect heat, touch, tickling and other sensations depends on our sensory nerves. Now, for the first time, researchers at Albert Einstein College of Medicine of Yeshiva University have identified a gene that orchestrates the crucially important branching of nerve fibers that occurs during development. The findings were published online today in the journal Cell.

The research focuses on dendrites, the string-like extensions of sensory nerves that penetrate tissues of the skin, eyes and other sensory organs. The formation of dendritic branchesarbors as we call themis vital for allowing sensory nerves to collect information and sample the environment appropriately, said Hannes Buelow,Ph.D., senior author of the Cell paper and associate professor of genetics at Einstein. These arbors vary greatly in shape and complexity, reflecting the different types of sensory input they receive. The loss of dendritic complexity has been linked to a range of neurological problems including Alzheimers disease, schizophrenia and autism spectrum disorders. Dr. Buelow is also associate professor in the Dominick P. Purpura Department of Neuroscience.

The Human Genome Project, completed in 2003, revealed that humans possess some 20,500 genes and determined the DNA sequence of each. But for many of those genes, their function in the body has remained unknown. The newly identified gene falls into this previously unknown function category. In fact, the gene belongs to an entire class of genes that had no known function in any organism.

One way to learn what genes do is to study a model organism like the roundworm, which possesses a similar number of genes as people but only 956 cells, of which 302 are nerve cells (neurons). By knocking out or mutating roundworm genes and observing the effects, researchers can obtain insight into how genes influence the animals structure or physiology.

The Einstein scientists were looking for genes that organize the structure of the developing nervous system. They focused on a pair of roundworm sensory neurons, known as PVD neurons, which together produce the largest web of dendrites of any neurons in the roundworma sensory web that covers almost the entire skin surface of the worm and detects pain and extreme temperatures.

Suspecting that a gene acts in the skin to instruct nearby dendrites to branch, the researchers set out to identify the one responsible. To find it, they induced random mutations in the worms, singled out those worms displaying defects in PVD dendrite branching, and then identified the gene mutations that caused the defective branching.

This lengthy procedure, known as a genetic screen, was carried out by Yehuda Salzberg, Ph.D., the studys lead author and a postdoctoral fellow in Dr. Buelows lab. The screen revealed that four mutations in the same gene caused defective branching of PVD dendrites. The researchers showed that this genes expression in the skin produces an extracellular protein that triggers normal branching of PVD dendrites during development. The dendritic branches of PVD neurons had previously been described as resembling menorahs, so the Einstein scientists named this gene mnr-1 and dubbed its protein menorin, or MNR-1.

The mnr-1 genes newly identified function in orchestrating dendrite branching is presumably not limited to roundworms. Versions of this gene are present in multicellular animals from the simplest to the most complex, including humans. Genes conserved in this way, through millions of years of evolution, tend to be genes that are absolutely necessary for maintaining life.

Further study revealed that menorin synthesized in the skin was necessary but not sufficient to prompt PVD dendrite branching. The menorin protein appears to form a complex with SAX-7/L1CAM, a well-known cell-adhesion protein found in the skin and elsewhere in the roundworm. The researchers found evidence that dendrite branching ensues when this two-protein complex is sensed by DMA-1, a receptor molecule found on growing sensory dendrites.

A fair amount was already known about factors within sensory neurons that regulate dendrite branching, said Dr. Buelow. But until now, we knew next to nothing about external cues that pattern the sensory dendrites crucial to the functioning of any of our five senses. Hopefully, our success in finding two skin-derived cues that orchestrate dendrite branching will help in identifying cues involved in other sensory organs and possibly in the brain. Finding such cues could conceivably lead to therapies for replacing dendrite arbors depleted by injury or disease.

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Syros Pharmaceuticals Announces New Findings on Central Role of Super-Enhancers in Controlling Cell Biology and Disease

WATERTOWN, Mass.--(BUSINESS WIRE)--

Syros Pharmaceuticals, a life sciences company harnessing breakthroughs in gene control to revolutionize the treatment of cancer and other diseases, today announced the publication of new findings about the central role of recently discovered gene control regulators, called Super-Enhancers, in cell biology and disease. The research, described in the journal Cell, confirms the broad potential of Super-Enhancers, the basis of Syros' proprietary discovery and development platform as both diagnostic and therapeutic targets.1 Earlier this year, Syros completed an exclusive licensing agreement with the Whitehead Institute for intellectual property related to this gene control discovery and other gene control technologies and assets.

The new findings include an inventory of the enhancer factors that occupy Super-Enhancer domains, an overview of Super-Enhancers found in 86 cell and tissue types, the acquisition of Super-Enhancers during tumor pathogenesis and the association with DNA sequence variation in disease. They are a continuation of groundbreaking work published in a pair of papers in Cell earlier this year.2,3 Syros Co-founder Richard A. Young, Ph.D., who is a member of the Whitehead Institute for Biomedical Research and Professor of Biology at Massachusetts Institute of Technology, led the scientific team that published this research, which was supported in part by grants from the National Institutes of Health.

We find that cancer cells acquire Super-Enhancers at oncogenes and other genes that play important roles in cancer pathogenesis, thus serving as useful biomarkers for understanding an individuals cancer, said Dr. Young. In addition, we find that genetic sequence variation associated with Alzheimers disease, type I diabetes and other autoimmune diseases is especially enriched in the Super-Enhancers of disease-relevant cell types.

This work strengthens our leading platform in understanding and using Super-Enhancers for therapeutic and diagnostic applications in cancer and other disease states, said Nancy Simonian, M.D., Syros Chief Executive Officer. Modern drug discovery and development demands patient-specific linkages to disease biology from the initiation of a program through the treatment of patients. We believe that the Syros platform is well-positioned to deliver an unique advantage in this regard.

The paper, Super-Enhancers in the Control of Cell Identity and Disease, will be published in the November 7th print edition of Cell and is currently available on line by subscription.

About Syros Pharmaceuticals

Syros Pharmaceuticals is a life sciences company harnessing breakthroughs in gene control to revolutionize the treatment of cancer and other diseases. Syros proprietary platform identifies the master switches for disease genes, opening a whole new approach to novel therapeutics. Syros initial focus is in cancer, but the company platform will also be applicable to other therapeutic areas. The Companys founders are pioneers in gene control research and translation. Co-founded and backed by Flagship Ventures and ARCH Venture Partners, Syros Pharmaceuticals is located in Watertown, MA. For more information, visit http://www.syros.com.

1 Hnisz, D., Abraham, B., Lee, T., Lau, A., Saint-Andr, V., Sigova, A., Hoke, H., & Young, R. (2013). Super-enhancers in the control of cell identity and disease. Cell, 155(2).

2 Loven, J., Hoke, H., Yin, C., Lau, A., Orlando, D., Vakoc, C., Bradner, J., Lee, T. & Young, R. (2013). Selective inhibition of tumor oncogenes by disruption of super-enhancers. Cell, 153(2).

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Gene movements observed in vivo

Public release date: 10-Oct-2013 [ | E-mail | Share ]

Contact: Maria-Elena Torres-Padilla Maria-Elena.TORRES-PADILLA@inserm.fr INSERM (Institut national de la sant et de la recherche mdicale)

This new method will be a great step forwards to understanding the resulting processes that control gene regulation.

These results were published on October 6, 2013 on the website of the review Nature Structural & Molecular Biology.

In the cell nucleus, DNA is highly dynamic and changes its spatial configuration, in the same way as during the process of cell division. We already know that the spatial configuration of DNA determines whether the genes are active or inactive, in other words whether they are capable of expression. In this study, the researchers attempted to better understand the dynamics of the position of the genome in the nucleus in order to obtain a better overall understanding of the genome and the expression of its genes.

Visualizing gene movements using the "TGV" method

TALE proteins were first discovered in bacteria. They are proteins that bind with "artificial" DNA and are capable of targeting a specific DNA sequence in a cell. In use since 2009, this technology has up till now been used with nucleases, enzymes that are capable of accurately cutting targeted DNA. The work carried out by Maria-Elena Torres-Padilla's team consisted in using TALE technology to mark a genome sequence and visualize its movement in vivo. The researchers succeeding in merging a green fluorescent protein (mClover) with a TALE protein, which allowed them to observe the localisation of specific DNA sequences inside the nucleus of living cells. This method, known as TGV (TALE-mediated Genome Visualization) gave the expected results and allowed the marked target DNA to be monitored in real-time.

Observing what becomes of male and female genes after fertilization.

All cells in the body contain two complete sets of chromosomes, one from the mother and one from the father.

"We specifically marked chromosomes either from the father or the mother, then using TGV technology, we managed to monitor their location during the subsequent cell divisions," explains Maria-Elena Torres-Padilla, research director at Inserm and principal author of the study.

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Gene movements observed in vivo

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Transcriptomics Technologies Market is Expected to Reach USD 4.6 Billion Globally in 2019: Transparency Market Research

ALBANY, New York, October 10, 2013 /PRNewswire/ --

According to a new market report published by Transparency Market Research "Transcriptomics Technologies Market (Microarrays, PCR, Gene Regulation and Next Generation Sequencing) -Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013-2019," the global transcriptomics technologies market was valued at USD 1.65 billion in 2012 and is expected to grow at a CAGR of 15.9% from 2013 to 2019, to reach an estimated value of USD 4.6 billion in 2019.

Browse the full report with Complete TOC athttp://www.transparencymarketresearch.com/transcriptomics-technologies-market.html

Transcriptome refers to the complete set of all coding and non-coding ribonucleic acid (RNA) molecules present in an individual or population of cells. Transcriptome accounts for about less than 5% of the total genome. Transcriptomics research refers to the study of functional and structural aspects of RNA transcripts in a given cell. This research provides insights about the gene expression and gene regulation mechanisms in normal and diseased cells such as cancerous cells. In addition it aids in identification of novel gene sequences and potential drug targets. With the increasing preference for personalized medicine and companion diagnostics, transcriptomics technologies promises increased participation of pharmaceutical and biotechnology companies in healthcare and medical research projects. The most important factors favoring growth of global transcriptomics market include consistent technological upgradation followed by increased healthcare and R&D expenditure by pharmaceutical and biotechnology companies. Also, continuous exploration of biomarkers and novel gene sequences will drive the growth and acceptance of transcriptomics technologies across the globe.

Lack of effective bioinformatics tools employed for transcriptome analysis is one of the major factors expected to hamper the ready acceptance of transcriptome analysis tools and services. In addition, lack of awareness about genomic medicine and domain expertise are the other factors which might restrain the market growth. Increased research investments made by several pharmaceutical and biotechnology companies to develop targeted therapeutics, provide a growth opportunity to the transcriptomics technologies. Currently, the trend of contract research outsourcing is advantageous for the development and commercialization of transcriptomics research outcomes.

The global transcriptomics technologies market can be categorized by technology, application and geography. RNA sequencing technologies have surpassed the usage of microarrays in drug discovery and research with increased efficiency and reliability. Transcriptomics technologies market for microarrays was the most prominent segment of the market in 2012 by revenue. However, next generation sequencing technologies are steadily surpassing the use of microarrays, owing to their higher efficiency, reliability and capabilities. Extensive research activities and technological evolution of sequencing platforms further propel adoption of next generation sequencing technologies. Another attractive segment of this market is that of gene regulation technologies such as micro RNA and RNA interference technology. These technologies regulate proper functioning of the genes in normal as well as diseased cells. It is estimated that the market for gene regulation technologies will grow at a CAGR of over 15% from 2013 to 2019.

At the regional level, North America was the largest market in 2012 for transcriptomics technologies followed by the European region. Presence of sophisticated and well infrastructured research and medical laboratories followed by increased participation of respective governments in healthcare sector will propel growth and acceptance of transcriptomics research in North American market. The Asia-Pacific region is expected to record commendable growth by 2019 due to huge untapped potential population, rising disposable income, increased healthcare investments and extensive research carried out in the biotechnology field.

Transcriptomics technologies market is characterized by the presence of established players as well as new players solely operating in this market. The major companies competing in this market are Agilent Technologies, Inc., Affymetrix, Inc., Life Technologies Corporation, Illumina, Inc., F-Hoffmann La Roche Ltd. and Thermo Fisher Scientific.

Related & Recently Published Reports by Transparency Market Research

The global transcriptomics technologies market is segmented as follows:

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Transcriptomics Technologies Market is Expected to Reach USD 4.6 Billion Globally in 2019: Transparency Market Research

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Increased risk of depression linked to mountaintop coal mining

Public release date: 10-Oct-2013 [ | E-mail | Share ]

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

New Rochelle, NY, October 10, 2013People who live among the destructive environmental effects of mountaintop coal mining face an increased risk of major depression. The results of a study conducted in the coal mining regions of Central Appalachia that explored the relationship between psychological health and environmental degradation are published in Ecopsychology, a peer-reviewed, online journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Ecopsychology website.

Michael Hendryx (current affiliation Indian University, Bloomington) and Kestrel Innes-Wimsatt, West Virginia University, Morgantown, compared depressive symptoms among adults living in areas with and without mountaintop coal mining, a form of large-scale mining that uses explosives and heavy machinery to remove forests, rock and soil above coal seams, resulting in increased local air and water pollution. The authors present the relationship between these activities and the risk of mild, moderate, and severe depression in the article "Increased Risk of Depression for People Living in Coal Mining Areas of Central Appalachia."

"Vital empirical data on the importance of nature for human wellbeing are presented in this timely study," says Editor-in-Chief Peter H. Kahn, Jr., PhD, Professor, Department of Psychology and Director, Human Interaction With Nature and Technological Systems (HINTS) Lab, University of Washington, Seattle, WA.

Read this related article in Ecopsychology on mountaintop removal coal mining "The Effects of Mountaintop Removal Coal Mining on Mental Health, Well-Being, and Community Health in Central Appalachia."

###

About the Journal

Ecopsychology, published quarterly online with Open Access options, is a peer-reviewed journal that seeks to reshape modern psychology by showing that it cannot stand apart from an intimate human connection with the natural environment. We need that connection with nature to do well mentally and physically, let alone to flourish, as individuals and as a species. Against this backdrop, the Journal publishes original scientific research articles, as well as theoretical papers, case studies, nature writing, and reviews of important books and other media. Complete tables of content and a sample issue are available on the Ecopsychology website.

About the Publisher

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Increased risk of depression linked to mountaintop coal mining

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Pigeon Genetics [03] Spread – Video


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World Stem Cell Summit Poster Forum Prizes Sponsored by Stemedica

SAN DIEGO, CALIF., Oct. 10, 2013 (GLOBE NEWSWIRE) -- Genetics Policy Institute (GPI), producer of the annual World Stem Cell Summit, and Stemedica Cell Technologies, Inc., a leader in adult allogeneic stem cell manufacturing, research and clinical development, announced today that Stemedica will serve as the exclusive sponsor of the Poster Forum at the 2013 World Stem Cell Summit, December 4-6, at the Manchester Grand Hyatt San Diego. As part of its sponsorship, Stemedica has contributed $5,000 in prize money to winning posters.

Bernard Siegel, executive director of the Genetics Policy Institute (GPI) and founder and co-chair of the Summit said, "The World Stem Cell Summit is a mission-driven event uniting the global stem cell community to chart the future of regenerative medicine. The annual Poster Forum aims at presenting cutting-edge research and original ideas to move the field forward to accelerate cures. Stemedica's sponsorship of the Poster Forum evidences its commitment to growing the entire field by supporting innovation and responsible research."

"We are honored to again be associated with the World Stem Cell Summit, one of the most important meetings for the stem cell community," stated Maynard Howe, Ph.D., CEO and Vice Chairman of Stemedica. "We are committed to supporting innovation, and through Stemedica's sponsorship of the Summit and the Poster Forum prizes, we believe we can inspire novel solutions by engaging the best and brightest minds from all the disciplines touching regenerative medicine." According to Nikolai Tankovich, M.D., Ph.D., President and Chief Medical Officer of Stemedica, "This collaboration between Stemedica and the World Stem Cell Summit creates a wonderful opportunity for our company to connect with the leaders of the global stem cell community and our current and future customers. We are grateful to have this valuable platform for progress in San Diego in 2013."

The World Stem Cell Summit Poster Forum is the only interdisciplinary stem cell poster session covering all topics in regenerative medicine. Posters display today's most innovative science, leading-edge technologies, industry updates, and regulatory solutions. Attendees are welcome to submit posters in all areas of science, medicine, business, finance, regulation and law, ethics, policy, communications, and other topics related to the societal impact of stem cell research and the regenerative medicine field. Abstracts must be submitted by November 15, 2013. For topic suggestions and more information, visit http://worldstemcellsummit.com/poster-forum-information.

ABOUT THE WORLD STEM CELL SUMMIT: The World Stem Cell Summit is the flagship meeting of the international stem cell community. The Summit aims to accelerate the discovery and development of lifesaving cures and therapies, bringing global stakeholders together to solve global challenges. It builds a foundation to advance cell therapies by establishing a supportive environment of regulation, legislation, financing, reimbursement and patient advocacy. The 2013 World Stem Cell Summit will be held at the Manchester Grand Hyatt San Diego, in San Diego, California, December 4-6, 2013. It is presented by GPI and is co-organized by the California Institute for Regenerative Medicine, Mayo Clinic, Scripps Research Institute, Sanford-Burnham Medical Research Institute, and Kyoto University Institute for Integrated Cell-Material Sciences (iCeMS). For more information, visit http://www.worldstemcellsummit.com.

ABOUT GPI: The Genetics Policy Institute (GPI) supports stem cell research to develop therapeutics and cures. GPI pursues its mission by producing the World Stem Cell Summit, honoring community leaders through the Stem Cell Action Awards, publishing the World Stem Cell Report, organizing educational initiatives and fostering strategic collaborations. For more information about GPI, visit http://www.genpol.org.

ABOUT STEMEDICA CELL TECHNOLOGIES, INC.: Stemedica Cell Technologies, Inc. is a specialty bio-pharmaceutical company committed to the manufacturing and development of best-in-class allogeneic adult stem cells and stem cell factors for use by approved research institutions and hospitals for pre-clinical and clinical (human) trials. The company is a government licensed manufacturer of clinical grade stem cells and is approved by the FDA for its Phase II clinical trials for ischemic stroke, acute myocardial infarct, and cutaneous photoaging. Stemedica is currently developing regulatory pathways for a number of other medical indications using adult allogeneic stem cells. The company is headquartered in San Diego, California.

A photo accompanying this release is available at: http://www.globenewswire.com/newsroom/prs/?pkgid=21471

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World Stem Cell Summit Poster Forum Prizes Sponsored by Stemedica

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Gene therapy: Sean Ainsworth at TEDxKalamazoo – Video


Gene therapy: Sean Ainsworth at TEDxKalamazoo
In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TED...

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Muscular Dystrophy #9: How Can We Pay For Gene Therapy of MD? – Video


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Jeff Chamberlain, PhD and Bruce Ransom, MD, PhD of The University of Washington drill down on the realities of what it would cost to take the AAV gene therap...

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Muscular Dystrophy #9: How Can We Pay For Gene Therapy of MD? - Video

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