Archive for October, 2013

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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Matric revision: Life Sciences: Genetics (5/8): DNA replication (2/5): protein synthesis (1/4) - Video

California Lightworks 800W Solarstorm - ExoticGenetix (Afterlife OG) / DNA Genetics (Tangie) Day 9

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California Lightworks 800W Solarstorm - ExoticGenetix (Afterlife OG) / DNA Genetics (Tangie) Day 9 - Video

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 (7/9): Cloning (3/4): Uses - Video

Matric Revision: Life Sciences: Genetics: Biotechnology (2/9): DNA (1/3) insulin (1/2)
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Matric Revision: Life Sciences: Genetics: Biotechnology (2/9): DNA (1/3) insulin (1/2) - Video

#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...

By: Dr. Daniel Pompa

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#1 New Cause of Diabetes: How Toxins Can Trigger Type 1 and Type 2 Diabetes Genetics Dr. Dan Pompa - Video

Meena Thirunavu, MD, Discusses Breast Cancer Genetics on KMSP Fox 9 News
Fox 9 reporter Dawn Stevens interviews oncologist Meena Thirunavu, MD, of North Memorial Humphrey Cancer Center, about the role of genetics in breast cancer ...

By: North Memorial Health Care

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Meena Thirunavu, MD, Discusses Breast Cancer Genetics on KMSP Fox 9 News - Video

RPE65: A Journey in Gene Therapy

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RPE65: A Journey in Gene Therapy - Video

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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Medgenics Reports Positive Data with Second-Generation Viral Vectors at European Society of Gene and Cell Therapy ...

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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Crohn's Disease Researcher Wins Gene Sequencing Grant

GENETIC ENGINEERING ANIMATIC

By: Leena Zaher

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GENETIC ENGINEERING ANIMATIC - Video

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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Ray Hammond Scary-Wonderful: the next 50 years, interview Innovation in Mind - Video

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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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

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

Oct. 25, 2013 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 Gehrig's 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 Gehrig's 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 disease's 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-Sinai's Neuromuscular Division in the Department of Neurology and director of the multidisciplinary ALS Program. He is the lead researcher and the article's senior author.

Laboratory models of diseases have been made possible by a recently invented process using induced pluripotent stem cells -- cells derived from a patient's 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-Sinai's Regenerative Medicine Institute. Dhruv Sareen, PhD, director of the iPSC facility and a faculty research scientist with the Department of Biomedical Sciences, is the article's 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 Alzheimer's and Parkinson's 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

Irvine, CA (PRWEB) October 25, 2013

Proove Biosciences, the leading personalized pain medicine laboratory, is excited to be presenting clinical data on how its genetic testing services have been helping doctors better prescribe pain medication at the 2013 Common Sense Pain Management Conference. The event will take place October 25th and 26th at the Renaissance Orlando Airport Hotel, in Orlando, Florida.

This industry CME course, a collaborative partnership between the Florida Medical Association, Florida Academy of Pain Medicine, Florida Society of Interventional Pain Physicians, and Florida Society of Physical Medicine and Rehabilitation, will help attendees and physicians adopt a common sense approach to pain management and controlled substance prescribing practices.

Topics and faculty of the program have been selected to ensure attendees will be better equipped to navigate changing regulations in this complex field. Proove Biosciences Medical Advisory Board member, Andrea Trescot, will present information on how genetic testing for narcotic risk and drug metabolism helps physicians meet new prescribing challenges through practice-based evidence at a dinner event hosted by the programs organizers on Friday, October 25, 2013.

We are excited for the opportunity to present our clinical data and research at the Common Sense Pain Management CME course, stated Proove Biosciences President and Founder, Brian Meshkin. As the only company who continues to present research on the genetics of pain medicine and as the only company offering proprietary testing services in personalized pain medicine, we look forward to sharing our industry-leading research and services to physicians and pain management professionals.

About Proove Biosciences Proove Biosciences is the leading Personalized Pain Medicine laboratory that provides proprietary genetic testing services to help physicians improve outcomes for patients and contain costs for insurers. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve pain medicine selection, dosing, and evaluation of medications they prescribe. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proovebio.com or call toll free 855-PROOVE-BIO (855-776-6832).

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Proove Biosciences Will Be Exhibiting At The 2013 Common Sense Pain Management Conference

PUBLIC RELEASE DATE:

25-Oct-2013

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

INVESTIGATING THE GENETIC MECHANISM BEHIND DELUSIONS IN SCHIZOPHRENICS

Wednesday, October 23, 3:30 PM EST SESSION 15 Psychiatric Disease: GWAS to Genes Room 253, Level 2, Convention Center Speaker: Mariela Zeledon, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine

Johns Hopkins researchers say they have identified changes in a person's DNA sequence that can affect what kinds of schizophrenia symptoms they experience. The DNA changes either ramp up or down a gene associated with delusions. The researchers still aren't sure how having too much and too little of the gene's product triggers delusions, but they have taken a step toward determining why people with schizophrenia can have very different symptoms.

Single DNA letter changes, or mutations, in the gene NRG3 have been linked to susceptibility to delusions in schizophrenic patients. But these mutations don't affect the portion of the gene used as a template to make NRG3 protein, so the researchers initially didn't know how the mutations were having an effect.

To home in on the cause, researchers first looked at whether single DNA letter variations could change NRG3 expression levelshow many times the gene is "read" to make protein. One NRG3 variant was turned on too high, meaning the gene makes too much NRG3 protein, and another too low, meaning it doesn't make enough. Next, the researchers looked at what proteins stick to the NRG3 DNA sequence of the variants associated with delusion compared to the normal version, specifically searching for proteins that turn genes on or off. They did this in two ways: by using a computer program to predict which DNA sequence would stick to which proteins, and by taking a whole slew of gene control proteins spotted individually onto a chip and seeing which DNA sequences bound to which spots. The computer program predicted one set of gene-activating proteins, which the researchers are confirming with the chip analysis. The physiological mechanism has yet to be fully elucidated, but the researchers say that knowing how each genetic variant causes delusions could yield information about disease progression and what treatments will be most effective.

DISCORDANT DATA BETWEEN GENETIC DATABASES --Study suggests case for standardization of data storage and information-sharing policies for genetic diseases

Thursday, October 24, 3:30 PM EST SESSION 32 Genetic Testing for Neurodevelopmental Disease: Genotype: Phenotype Challenges Room 205, Level 2, Convention Center Speaker: Julie Jurgens, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine

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Johns Hopkins Medicine news tips from the 2013 American Society of Human Genetics conference

Oct. 24, 2013 An international research consortium led by investigators at Massachusetts General Hospital (MGH) and the University of Chicago has answered several questions about the genetic background of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), providing the first direct confirmation that both are highly heritable and also revealing major differences between the underlying genetic makeup of the disorders. Their report is being published in the October issue of the open-access journal PLOS Genetics.

"Both TS and OCD appear to have a genetic architecture of many different genes -- perhaps hundreds in each person -- acting in concert to cause disease," says Jeremiah Scharf, MD, PhD, of the Psychiatric and Neurodevelopmental Genetics Unit in the MGH Departments of Psychiatry and Neurology, senior corresponding author of the report. "By directly comparing and contrasting both disorders, we found that OCD heritability appears to be concentrated in particular chromosomes -- particularly chromosome 15 -- while TS heritability is spread across many different chromosomes."

An anxiety disorder characterized by obsessions and compulsions that disrupt the lives of patients, OCD is the fourth most common psychiatric illness. TS is a chronic disorder characterized by motor and vocal tics that usually begins in childhood and is often accompanied by conditions like OCD or attention-deficit hyperactivity disorder. Both conditions have been considered to be heritable, since they are known to often recur in close relatives of affected individuals, but identifying specific genes that confer risk has been challenging.

Two reports published last year in the journal Molecular Psychiatry, with leadership from Scharf and several co-authors of the current study, described genome-wide association studies (GWAS) of thousands of affected individuals and controls. While those studies identified several gene variants that appeared to increase the risk of each disorder, none of the associations were strong enough to meet the strict standards of genome-wide significance. Since the GWAS approach is designed to identify relatively common gene variants and it has been proposed that OCD and TS might be influenced by a number of rare variants, the research team adopted a different method. Called genome-wide complex trait analysis (GCTA), the approach allows simultaneous comparision of genetic variation across the entire genome, rather than the GWAS method of testing sites one at a time, as well as estimating the proportion of disease heritability caused by rare and common variants.

"Trying to find a single causative gene for diseases with a complex genetic background is like looking for the proverbial needle in a haystack," says Lea Davis, PhD, of the section of Genetic Medicine at the University of Chicago, co-corresponding author of the PLOS Genetics report. "With this approach, we aren't looking for individual genes. By examining the properties of all genes that could contribute to TS or OCD at once, we're actually testing the whole haystack and asking where we're more likely to find the needles."

Using GCTA, the researchers analyzed the same genetic datasets screened in the Molecular Psychiatry reports -- almost 1,500 individuals affected with OCD compared with more than 5,500 controls, and nearly TS 1,500 patients compared with more than 5,200 controls. To minimize variations that might result from slight difference in experimental techniques, all genotyping was done by collaborators at the Broad Institute of Harvard and MIT, who generated the data at the same time using the same equipment. Davis was able to analyze the resulting data on a chromosome-by-chromosome basis, along with the frequency of the identified variants and the function of variants associated with each condition.

The results found that the degree of heritability for both disorders captured by GWAS variants is actually quite close to what previously was predicted based on studies of families impacted by the disorders. "This is a crucial point for genetic researchers, as there has been a lot of controversy in human genetics about what is called 'missing heritability'," explains Scharf. "For many diseases, definitive genome-wide significant variants account for only a minute fraction of overall heritability, raising questions about the validity of the approach. Our findings demonstrate that the vast majority of genetic susceptibility to TS and OCD can be discovered using GWAS methods. In fact, the degree of heritability captured by GWAS variants is higher for TS and OCD than for any other complex trait studied to date."

Nancy Cox, PhD, section chief of Genetic Medicine at the University of Chicago and co-senior author of the PLOS Genetics report, adds, "Despite the fact that we confirm there is shared genetic liability between these two disorders, we also show there are notable differences in the types of genetic variants that contribute to risk. TS appears to derive about 20 percent of genetic susceptibility from rare variants, while OCD appears to derive all of its susceptibility from variants that are quite common, which is something that has not been seen before."

In terms of the potential impact of the risk-associated variants, about half the risk for both disorders appears to be accounted for by variants already known to influence the expression of genes in the brain. Further investigation of those findings could lead to identification of the affected genes and how the expression changes contribute to the development of TS and OCD. Additional studies in even larger patient populations, some of which are in the planning stages, could identify the biologic pathways disrupted in the disorder, potentially leading to new therapeutic approaches.

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Insights into genetic architecture of OCD, tourette syndrome

Genetics. What are the chances to have seven boys in a row?
The chance of having a boy at each birth is 1/2. So 7 boys in a row is: 1/2 * 1/2 * 1/2 * 1/2 * 1/2 * 1/2* 1/2 1/128 or (1/2)^7 = 0.0078 A lot of people find...

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Genetics. What are the chances to have seven boys in a row? - Video

Biology: Heritability in Behavioral Genetics
Written by Matt Sanders Produced by ByPass Publishing copyright 2013.

By: ByPass Publishing #39;s Difficult Topics Explained

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Biology: Heritability in Behavioral Genetics - Video

Matric revision:Life Sciences: Genetics (2/8): Structure of RNA
Lesson conducted in English and Afrikaans: single strand, ribose (sugar), x4 nitrogenous bases. Series brought to you by Western Cape Education Department FET Curriculum and Communication...

By: wcednews

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Matric revision:Life Sciences: Genetics (2/8): Structure of RNA - Video

DNA Genetics - Hash Plant Haze 2013 Outdoor Grow Part 10 SERIES FINALE!
HELLO SUBSCRIBERS AND VIEWERS... WELCOME BACK. THE HASHPLANT HAZE TOTALS WILL BE DISCUSSED IN MY LATEST INDOOR GROW SERIES. SO FAR AS OF TODAY I #39;VE PUT 5 OUNCES OF HAZE INTO JARS WITH ONLY...

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DNA Genetics - Hash Plant Haze 2013 Outdoor Grow Part 10 SERIES FINALE! - Video

Aventure Sophia Genetics Comment interpréter le génôme: Jurgi Camblong at TEDxBasqueCountry 2013
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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Aventure Sophia Genetics Comment interpréter le génôme: Jurgi Camblong at TEDxBasqueCountry 2013 - Video