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Matric Revision: Life Sciences: Genetics: Biotechnology (5/9): Cloning (1/4)
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PUBLIC RELEASE DATE:

27-Oct-2013

Contact: Kim Menard kim.menard@uphs.upenn.edu 215-662-6183 University of Pennsylvania School of Medicine

PHILADELPHIA - The largest international Alzheimer's disease genetics collaboration to date has found 11 new genetic areas of interest that contribute to late onset Alzheimer's Disease (LOAD), doubling the number of potential genetics-based therapeutic targets to interrogate. The study, published in Nature Genetics, provides a broader view of genetic factors contributing to the disease and expands the scope of disease understanding to include new areas including the immune system, where a genetic overlap with other neurodegenerative diseases such as multiple sclerosis and Parkinson's disease was identified.

"Human genetic studies are being used with increased frequency to validate new drug targets in many diseases. Here we greatly increased the list of possible drug target candidates for Alzheimer's disease, finding as many new significant genes in this one study as have been found in the last 15 years combined," said co-senior author Gerard Schellenberg, PhD, director of the Alzheimer's Disease Genetics Consortium (ADGC) and professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania. "This international effort has given us new clues into the steps leading to and accelerating Alzheimer's disease. We can add these new genetic clues to what we already know and try to piece together the mechanism of this complex disease."

Pooling resources through the International Genomics of Alzheimer's Project (IGAP), the collaborative team collected 74,076 patients and controls from 15 countries. After a two stage meta-analysis, the group found some genes which confirmed known biological pathway of Alzheimer's disease, including the role of the amyloid pathway (SORL1 , CASS4) and tau (CASS4, FERMT2). Newly discovered genes involved in the immune response and inflammation (HLA-DRB5/DRB1, INPP5D, MEF2C) reinforced a pathway implied by previous work (on CR1, TREM2). Additional genes related to cell migration (PTK2B), lipid transport and endocytosis (SORL1) were also confirmed. And new hypotheses emerged related to hippocampal synaptic function (MEF2C , PTK2B), the cytoskeleton and axonal transport (CELF1, NME8, CASS4) as well as myeloid and microglial cell functions (INPP5D).

One of the more significant new associations was found in the HLA-DRB5 - DRB1 region, one of the most complex parts of the genome, which plays a role in the immune system and inflammatory response. It has also been associated with multiple sclerosis and Parkinson's disease, suggesting that the diseases where abnormal proteins accumulate in the brain may have a common mechanism involved, and possibly have a common drug target, Dr. Schellenberg noted.

"We know that healthy cells are very good at clearing out debris, thanks in part to the immune response system, but in these neurodegenerative diseases where the brain has an inflammatory response to bad proteins and starts forming plaques and tangle clumps, perhaps the immune response can get out of hand and do damage," said Dr. Schellenberg. "Through this powerful international group as well as our own US collaborations, we'll expand the data set even further to look for rare variants and continue our analysis to find more opportunities to better understand the disease and find viable therapeutic targets. Large-scale sequencing will certainly play a part in the next phase of our genetics studies."

###

Started in 2011, IGAP includes the contributions from the European Alzheimer's Disease Initiative (EADI) in France led by Philippe Amouyel, MD, PhD, at the Institute Pasteur de Lille and Lille University; the Genetic and Environmental Risk in Alzheimer's Disease (GERAD) from the United Kingdom led by Julie Williams, PhD, at Cardiff University; the neurology subgroup of the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) led by Sudha Seshadri, MD, at Boston University School of Medicine; the Alzheimer's Disease Genetics Consortium (ADGC) from the United States led by Gerard Schellenberg, PhD, Perelman School of Medicine at the University of Pennsylvania; as well as ADGC teams from the University of Miami, Vanderbilt University, Boston University and Columbia University in the United States, among others.

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Regenerative Medicine Explained
http://www.ihealthtube.com http://www.facebook.com/ihealthtube Dr. Joel Buamgartner explains the practice of regenerative medicine. Find out how you may benefit from the body #39;s...

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Next spring, students at local high schools will dive into the study of the marine bacterium Kytococcus sedentarius, thanks to a $1.1 million National Science Foundation grant to UB.

Stephen Koury and his colleagues in the School of Medicine and Biomedical Sciences, received the grant to educate regional high school teachers and recruit high school students to pursue careers in STEM (science, technology, engineering and mathematics) fields. The new program focuses on bioinformatics, an interdisciplinary field that uses software tools to store, retrieve, organize and analyze biologic information. Bioinformatics is a field of rapid growth that provides tools for better health care through improvement in prevention, detection, diagnosis and treatment of diseases.

Koury, research assistant professor in the Department of Biotechnical and Clinical Laboratory Sciences, notes that new jobs on the Buffalo Niagara Medical Campus likely will require training in biotechnology and bioinformatics; the new program will provide a pipeline for educator and student recruitment, training and mentorship in STEM fields at the high school level.

For us to be successful, we need to create the environment where children not only want to get involved, but want to stay in Buffalo, says Norma Nowak, professor of biochemistry, director of science and technology at UBs New York State Center of Excellence in Bioinformatics and Life Sciences, and associate professor of oncology at Roswell Park Cancer Institute. This needs to be the spark that lights the fire.

Over the next three years, the grant will allow 450 high school students and 90 teachers to conduct and present scientific research in bioinformatics. The program will involve educators and students from 13 counties, including Niagara, Erie, Chautauqua, Cattaraugus, Wyoming, Genesee, Orleans, Monroe, Livingston, Allegany, Ontario, Wayne and Steuben.

The educational program will begin with a two-week workshop at UB, where high school teachers will receive training in microbial genome annotation. The teachers then will pass on their new skills to selected students in their schools, with support from UB faculty and staff.

During the first semester, students will be introduced to basic aspects of genetics and genomics. They also will receive career mentoring through a partnership with the New York State Area Health Education Center System (AHEC), a unit of UBs Department of Family Medicine that addresses health care workforce needs.

The second semester will focus on conducting Web-based research in microbial annotation through a program called IMG-ACT, a bioinformatics tool kit available through the U.S. Department of Energys Joint Genome Institute. The program will end with a capstone symposium at which students will present the results of their research to university faculty, researchers and employers in the biosciences fields.

For many local students, this will be their first real-world taste of scientific experimentation. And since its an unscripted project, students will learn to rely on themselves, rather than the specific direction of instructors.

We cant say for sure what they should find, says Koury. They will actually be doing a research project, and by the time they are done, they will probably be the expert on the particular gene sequence they have studied. It will give them that joy of discovery.

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Genome project fosters bioinformatics education in high schools

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Rap Simple Genetics pt 2
More J-Ones stuff...just spitting over the beat-Simple Genetics...VAMPIRE TURTLE!!!

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Cancer Genetics, Inc. (NASDAQ: CGIX)
Panna Sharma of Cancer Genetics joins Equities.com to discuss how the company is quickly emerging as a leader in the DNA-based cancer diagnostics space. To v...

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Genetics. Law of Probability. (beginning level)
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Matric revision: Life Sciences: Genetics (8/8): DNA replication (5/5): protein synthesis (4/4)
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Matric revision: Life Sciences: Genetics (5/8): DNA replication (2/5): protein synthesis (1/4)
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California Lightworks 800W Solarstorm - ExoticGenetix (Afterlife OG) / DNA Genetics (Tangie) Day 9

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Matric revision: Life Sciences: Genetics (3/8): Difference between DNA and RNA
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Matric Revision: Life Sciences: Genetics: Biotechnology (7/9): Cloning (3/4): Uses
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Matric Revision: Life Sciences: Genetics: Biotechnology (2/9): DNA (1/3) insulin (1/2)
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#1 New Cause of Diabetes: How Toxins Can Trigger Type 1 and Type 2 Diabetes Genetics Dr. Dan Pompa
http://www.drpompa.com/additional-resources/health-tips/221-diabetes-caused-by-toxin-induced-insulin-resistance-type-1-diabetes-vs-type-2-diabetes-natural-so...

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Meena Thirunavu, MD, Discusses Breast Cancer Genetics on KMSP Fox 9 News
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RPE65: A Journey in Gene Therapy

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MISGAV, Israel & SAN FRANCISCO--(BUSINESS WIRE)--

Medgenics, Inc. (NYSE MKT:MDGN and AIM:MEDU, MEDG), developer of a novel technology for the sustained production and delivery of therapeutic proteins in patients using their own tissue, announces that new, positive data on the Companys second-generation viral vectors were highlighted in a poster presentation at the European Society of Gene and Cell Therapy Congress. The poster in its entirety can be viewed at http://www.medgenics.com.

Entitled Second generation EPODURE Biopump markedly extends duration of EPO delivery in mice could prolong therapeutic effect in patients, the poster was presented yesterday by Reem Miari, MSc and Dr. Nir Shapir of Medgenics, and study authors. This new study showed that the Companys second-generation gene therapy vectors provided substantial improvements in levels and durability of therapeutic protein secretion in vitro and in vivo. In addition, the new vectors incorporated improvements in surgical technique, including co-administration of Depo-Medrol (methylprednisolone acetate) on implantation. More specifically, when Depo-Medrol was applied to second generation vectors, animals serum hEPO levels remained 40-50 fold higher for over 100 days post implantation when compared to first generation vector with no Depo-Medrol.

The Company plans to initiate human trials with a Biopump containing the second generation viral vector and new implantation protocol in the first half of 2014.

These new data are compelling and provide additional evidence of our success in advancing the Biopump technology while improving performance and handling, said Dr. Garry Neil, Global Head R&D at Medgenics. The second-generation viral vectors show potential to substantially increase the duration of the protein secretion of the Biopump with enhanced surgical techniques. These advances can be clinically meaningful, particularly for patients on chronic protein therapy. Based on these results we plan to accelerate our development work, and will advance the second-generation vectors into human clinical trials.

We are delighted to have these preliminary data on our second-generation Biopump presented at this prestigious scientific meeting, said Michael Cola, President and Chief Executive Officer of Medgenics. The Biopump technology platform, which produces therapeutic proteins in the body using a small tissue explant from the patients own skin, holds significant clinical opportunity in a variety of indications. We are very encouraged by these data as the enhanced viral vectors may improve the surgical procedure and prolong the therapeutic effect in patients.

About Medgenics

Medgenics is developing and commercializing Biopump, a proprietary tissue-based platform technology for the sustained production and delivery of therapeutic proteins using the patient's own tissue for the treatment of a range of chronic diseases including anemia, hepatitis, among others. For more information, please visit http://www.medgenics.com.

Forward-looking Statements

This release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, Section 21E of the Securities Exchange Act of 1934 and as that term is defined in the Private Securities Litigation Reform Act of 1995, which include all statements other than statements of historical fact, including (without limitation) those regarding the company's financial position, its development and business strategy, its product candidates and the plans and objectives of management for future operations. The company intends that such forward-looking statements be subject to the safe harbors created by such laws. Forward-looking statements are sometimes identified by their use of the terms and phrases such as "estimate," "project," "intend," "forecast," "anticipate," "plan," "planning, "expect," "believe," "will," "will likely," "should," "could," "would," "may" or the negative of such terms and other comparable terminology. All such forward-looking statements are based on current expectations and are subject to risks and uncertainties. Should any of these risks or uncertainties materialize, or should any of the company's assumptions prove incorrect, actual results may differ materially from those included within these forward-looking statements. Accordingly, no undue reliance should be placed on these forward-looking statements, which speak only as of the date made. The company expressly disclaims any obligation or undertaking to disseminate any updates or revisions to any forward-looking statements contained herein to reflect any change in the company's expectations with regard thereto or any change in events, conditions or circumstances on which any such statements are based. As a result of these factors, the events described in the forward-looking statements contained in this release may not occur.

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Johns Hopkins Medicine Media Relations and Public Affairs Media Contacts: Patrick Smith 410-955-8242; psmith88@jhmi.edu or Helen Jones 410-502-9422; hjones49@jhmi.edu Oct. 25, 2013

FOR IMMEDIATE RELEASE

CROHNS DISEASE RESEARCHER WINS GENE SEQUENCING GRANT

Johns Hopkins gastroenterologist Steven Brant, M.D., has received a corporate in-kind grant to further his research into the genetics of Crohns disease, an inflammatory bowel disorder that tends to run in families and afflicts an estimated 500,000 Americans.

The in-kind, competitive grant, awarded by Quintiles-owned Expression Analysis and Illumina, companies that develop and commercialize new genomic technologies, tests and other services, is worth nearly $250,000, the corporations say, and will provide genomic sequencing and other gene analyses to Brants laboratory.

Illumina is based in San Diego and Expression Analysis in Research Triangle Park, N.C. Quintiles is a publicly traded research and testing company. Brant has no financial or consulting relationship with Quintiles or the companies it owns.

Since 1996, Brant has worked to unravel the genetic causes of Crohns, an often-debilitating disease, and his goal is to identify genetic variations that contribute to the disorder.

The sequencing material and analytics from Quintiles will enable Brant and his team to examine and compare differences in genetic mutations, gene regulation and gene expression in immune system cells isolated from family members with Crohns disease, from their relatives who do not, Brant says.

Assisting Brant in this study are Claire Simpson, Ph.D., and Joan Bailey-Wilson, Ph.D. of the National Human Genome Research Institute, a branch of the National Institutes of Health; and Dermot McGovern, M.D., Ph.D., MRCP, of Cedars Sinai Medical Center in Los Angeles.

Brant, an associate professor at the Johns Hopkins University School of Medicine and the director of the Meyerhoff Inflammatory Bowel Disease Center, is one of two recipients of the in-kind grant, given annually to competing researchers, and the only U.S. grantee. Brant has been on the faculty as part of the Gastroenterology Division at Johns Hopkins since 1992. He holds a joint appointment in the Johns Hopkins University Bloomberg School of Public Health. He has authored more than 90 scientific papers, and has contributed to several book chapters. He serves as an associate editor for genetics for the journal Inflammatory Bowel Diseases.

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GENETIC ENGINEERING ANIMATIC

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Ray Hammond Scary-Wonderful: the next 50 years, interview Innovation in Mind
30 years ago, he foresaw the importance of Internet. A few years later, his book "The Modern Frankenstein" was the first to predict the evolution of genetic ...

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Sir Gregory Winter has spent the past quarter of a century at his Cambridge University lab working with existing antibodies, adapting natures immune mechanism to produce a new generation of innovative drugs.

Working at the other end of the design spectrum, David Baker, a biochemist at the University of Washington, has been using computer models and crowdsourcing to create protein structures from scratch, hoping they will become future vaccines and diagnostic tools.

Both research pioneers were in Toronto this week, where they spoke at a symposium of the Gairdner Foundation about the promises of genetic engineering.

Sir Gregory, 62, is one of this years recipients of the Canada Gairdner International Awards, which have a record for predicting future Nobel Prize winners.

His career has been a steady pursuit of ever smaller, more efficient ways to harness the antibody mechanism to fight illnesses. He was a pioneer in engineering humanized antibodies, then focused on domain antibodies, the active parts of antibodies. He now focuses on bicycle peptides, even tinier protein rings that can travel where larger antibodies cant.

In an interview about new advances in antibody-based biologic drugs, Sir Gregory mentioned the great potential of new drugs that deal with a body mechanism known as the programmed death receptor 1.

The PD-1 acts as a checkpoint on the immune system to prevent it from overwhelming healthy cells. Scientists believe that tumours co-opt the PD-1 to protect themselves. A new class of drugs called checkpoint inhibitors is now revolutionizing cancer therapy by disabling the tumours hold on the PD-1.

Its like souping up your immune system and your immune system now starts attacking the tumour Its going to be very exciting, Sir Gregory said.

His previous work has been credited with creating the techniques used for cancer drugs such as Avastin and Herceptin. He then helped develop Humira, a drug for rheumatoid arthritis that is becoming one of the biggest-selling medications ever.

Those drugs dont come cheap, however, and there have been controversies when governments balked at footing the bills for therapies like Herceptin. At the same time, the industry may be at a crossroads because many patents on biologic drugs are now expiring. Because of those drugs complex nature, U.S. and Canadian regulators have imposed tougher guidelines for generic drug makers. Health Canada uses the term subsequent-entry biologic to indicate that it does not consider biosimilars a generic drug that can be quickly approved without clinical trials.

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Meet the two scientists creating the cancer drugs of the future

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PUBLIC RELEASE DATE:

25-Oct-2013

Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital

Boston, MA A new study from Brigham and Women's Hospital (BWH) reveals several new gene variants that are associated with how people living with chronic obstructive pulmonary disease (COPD) respond to inhaled bronchodilators. COPD is a progressive breathing disorder that limits airflow in the lungs. Bronchodilators are medicines used to alleviate respiratory disorder symptoms.

The abstract for this meta-analysis study will be presented at the American Society of Human Genetics 2013 meeting, Oct. 22 to 26 in Boston.

One of the research goals was to identify single nucleotide polymorphisms (SNPs) associated with bronchodilator responsiveness (BDR).

"Identifying single nucleotide polymorphisms associated with bronchodilator responsiveness may reveal genetic pathways associated with the pathogenesis of COPD and may identify novel treatment methods," said Megan Hardin, MD, BWH Channing Division of Network Medicine, lead study author.

The researchers used statistical methods to combine results from 5,789 Caucasian patients with moderate to severe COPD from four individual studies. The genotypes of over 700 African Americans with COPD were also analyzed.

Most (4,561) of the patients in the four cohorts studied had over 10 pack-years of smoking. The group whose members had greater than 5 pack-years of smoking totaled 364, and the cohort with greater than two and one-half years totaled 864.

All patients were genotyped, and their lung function was tested by spirometry before and after they used the bronchodilator medication albuterol, which relaxes muscles in the airways and increases air flow to the lungs. Spirometry measures the volume and flow of air that is exhaled.

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Genetic variants associated with bronchodilator responsiveness

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Newswise Although the technology has existed for just a few years, scientists increasingly use disease in a dish models to study genetic, molecular and cellular defects. But a team of doctors and scientists led by researchers at the Cedars-Sinai Regenerative Medicine Institute went further in a study of Lou Gehrigs disease, a fatal disorder that attacks muscle-controlling nerve cells in the brain and spinal cord.

After using an innovative stem cell technique to create neurons in a lab dish from skin scrapings of patients who have the disorder, the researchers inserted molecules made of small stretches of genetic material, blocking the damaging effects of a defective gene and, in the process, providing proof of concept for a new therapeutic strategy an important step in moving research findings into clinical trials.

The study, published Oct. 23 in Science Translational Medicine, is believed to be one of the first in which a specific form of Lou Gehrigs disease, or amyotrophic lateral sclerosis, was replicated in a dish, analyzed and treated, suggesting a potential future therapy all in a single study.

In a sense, this represents the full spectrum of what we are trying to accomplish with patient-based stem cell modeling. It gives researchers the opportunity to conduct extensive studies of a diseases genetic and molecular makeup and develop potential treatments in the laboratory before translating them into patient trials, said Robert H. Baloh, MD, PhD, director of Cedars-Sinais Neuromuscular Division in the Department of Neurology and director of the multidisciplinary ALS Program. He is the lead researcher and the articles senior author.

Laboratory models of diseases have been made possible by a recently invented process using induced pluripotent stem cells cells derived from a patients own skin samples and sent back in time through genetic manipulation to an embryonic state. From there, they can be made into any cell of the human body.

The cells used in the study were produced by the Induced Pluripotent Stem Cell Core Facility of Cedars-Sinais Regenerative Medicine Institute. Dhruv Sareen, PhD, director of the iPSC facility and a faculty research scientist with the Department of Biomedical Sciences, is the articles first author and one of several institute researchers who participated in the study.

In these studies, we turned skin cells of patients who have ALS into motor neurons that retained the genetic defects of the disease, Baloh said. We focused on a gene, C9ORF72, that two years ago was found to be the most common cause of familial ALS and frontotemporal lobar degeneration, and even causes some cases of Alzheimers and Parkinsons disease. What we needed to know, however, was how the defect triggered the disease so we could find a way to treat it.

Frontotemporal lobar degeneration is a brain disorder that typically leads to dementia and sometimes occurs in tandem with ALS.

The researchers found that the genetic defect of C9ORF72 may cause disease because it changes the structure of RNA coming from the gene, creating an abnormal buildup of a repeated set of nucleotides, the basic components of RNA.

We think this buildup of thousands of copies of the repeated sequence GGGGCC in the nucleus of patients cells may become toxic by altering the normal behavior of other genes in motor neurons, Baloh said. Because our studies supported the toxic RNA mechanism theory, we used two small segments of genetic material called antisense oligonucleotides ASOs to block the buildup and degrade the toxic RNA. One ASO knocked down overall C9ORF72 levels. The other knocked down the toxic RNA coming from the gene without suppressing overall gene expression levels. The absence of such potentially toxic RNA, and no evidence of detrimental effect on the motor neurons, provides a strong basis for using this strategy to treat patients suffering from these diseases.

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Lou Gehrig's Disease: From Patient Stem Cells to Potential Treatment Strategy in One Study

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