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

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GENETIC ENGINEERING ANIMATIC

By: Leena Zaher

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GENETIC ENGINEERING ANIMATIC - Video

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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 ...

By: LundUniversity

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

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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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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

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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

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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

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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

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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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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

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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...

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

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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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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

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Gene therapy patient on new trial
Gene therapy patient on new trial Heart gene therapy patient on new trial A trial of a gene therapy to treat heart failure has started at a London hospital.

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Gene therapy patient on new trial - Video

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ScienceLIVE: Treating Spinal Cord Injury
ScienceLIVE: Treating Spinal Cord Injury.

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ScienceLIVE: Treating Spinal Cord Injury - Video

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SIKESTON, MO (KFVS) -

Stem cell therapycan bea very controversial issue, but now some veterinarians are using new techniques to harvest those cells.

The cutting edge procedure helps fight degenerative diseases and has only been performed a few times in Missouri.

Experts say regenerative medicine using stem cells is a less invasive and more cost effective alternative for dogs suffering from osteoarthritis and cartilage injuries.

Googus is an 8 year old Boxer mix diagnosed with degenerative myelopathy.

This terminal disease affects the spinal cord causing loss of control in the hind legs.

"Even though they're unable to use their back legs they're still normal in their brain and they just don't understand why they can't walk," said Dr. Stephen Williams, Animal Health Center. "There's just not a good connection and transmission from the nerves to the back legs."

But new technology could slow, if not stop, its progression. Dr. Williams is using stem cell therapy to counteract this and other degenerative diseases in dogs.

"The stem cells from the patient are the ones that are going to benefit that same patient versus trying to take stem cells from a different dog and putting them in this dog," said Dr. Williams. "By harvesting the stem cells from the fat versus people have heard of stem cells from umbilical cords and stuff like that we're taking it from the fat tissue and harvesting those and actually activating with a fluorescent light."

Once the fat is extracted it's a two hour process to prepare the new stem cells. Those are then injected back into the patient along with platelets that work with the immune system to fight the disorder.

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Stem cell therapy used locally in dogs

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SIKESTON, MO (KFVS) -

Stem cell therapycan bea very controversial issue, but now some veterinarians are using new techniques to harvest those cells.

The cutting edge procedure helps fight degenerative diseases and has only been performed a few times in Missouri.

Experts say regenerative medicine using stem cells is a less invasive and more cost effective alternative for dogs suffering from osteoarthritis and cartilage injuries.

Googus is an 8 year old Boxer mix diagnosed with degenerative myelopathy.

This terminal disease affects the spinal cord causing loss of control in the hind legs.

"Even though they're unable to use their back legs they're still normal in their brain and they just don't understand why they can't walk," said Dr. Stephen Williams, Animal Health Center. "There's just not a good connection and transmission from the nerves to the back legs."

But new technology could slow, if not stop, its progression. Dr. Williams is using stem cell therapy to counteract this and other degenerative diseases in dogs.

"The stem cells from the patient are the ones that are going to benefit that same patient versus trying to take stem cells from a different dog and putting them in this dog," said Dr. Williams. "By harvesting the stem cells from the fat versus people have heard of stem cells from umbilical cords and stuff like that we're taking it from the fat tissue and harvesting those and actually activating with a fluorescent light."

Once the fat is extracted it's a two hour process to prepare the new stem cells. Those are then injected back into the patient along with platelets that work with the immune system to fight the disorder.

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Stem cell therapy used in Sikeston in dogs

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Assistant Professor Cecilia Williams is doing double duty finding ways to combat triple-negative breast cancer and helping students get hands-on experience with scientific research. | Courtesy of uh.edu

A research team at the University is working on finding new ways to treat triple-negative breast cancer, the only subtype of breast cancer that doesnt have a targeted gene therapy.

Triple-negative breast cancer receives its name from its lack of the three receptors that fuel most breast cancers. Biology senior Marisa Simon, who received an undergraduate research fellowship this summer to work on the project, explained the added difficulties of this form of cancer.

Unlike the other breast cancer subtypes, TNBC does not over-express progesterone, estrogen or human epidermal growth factor receptors, Simon said. Therefore, the cancer cant be targeted based on the receptors for these hormones.

The research team, led by assistant professor Cecilia Williams, is working with the maternal embryonic leucine-zipper kinase protein to find a different way of treating TNBC.

Williams discovered that MELK was found in stem-like cells, but disappeared as those cells developed. Then, the team found that the mammary stem-like cells shared major gene expression with the TNBC subtype and that MELK expression correlates with poor prognosis in breast cancer.

We believe that targeting MELK, or the mechanism that MELK is involved in, can help improving the poor prognosis of this breast cancer subtype, Williams said. Now, our first aim (is) to understand the role of MELK for mammary stem cells and for TNBC and then to explore its use for better treatments.

Simon said Williams is a well-known cancer researcher who has authored many publications and her work has greatly contributed to the knowledge and understanding of various types breast cancer.

She was extremely generous in allowing me to join her lab, Simon said. Through her mentoring and the help of her experienced graduate students, I have developed a passion for research.

Cell and molecular biology graduate student Jun Wang, who is also working with Williams, is researching other methods to treat TNBC.

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UH researcher works to crack breast cancer treatment

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PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Genevieve Maul gm349@admin.cam.ac.uk 44-012-237-65542 University of Cambridge

Researchers from the University of Cambridge have discovered a novel genetic cause of severe obesity which, although relatively rare, demonstrates for the first time that genes can reduce basal metabolic rate how the body burns calories.

Previous studies (performed by David Powell and colleagues at Lexicon Pharmaceuticals in Texas) demonstrated that when the gene KSR2 (Kinase Suppressor of Ras 2) was deleted in mice, the animals became severely obese. As a result of this research, Professor Sadaf Farooqi from the University of Cambridge's Wellcome Trust-MRC Institute of Metabolic Science decided to explore whether KSR2 mutations might also lead to obesity in humans.

In collaboration with Dr Ines Barroso's team at the Wellcome Trust Sanger Institute, the researchers sequenced the DNA from over 2,000 severely obese patients and identified multiple mutations in the KSR2 gene. The research was published online today, 24 October, in the journal Cell.

KSR2 belongs to a group of proteins called scaffolding proteins which play a critical role in ensuring that signals from hormones such as insulin are correctly processed by cells in the body to regulate how cells grow, divide and use energy. To investigate how KSR2 mutations might lead to obesity, Professor Farooqi's team performed a series of experiments which showed that many of the mutations disrupt these cellular signals and, importantly, reduce the ability of cells to use glucose and fatty acids.

Patients who had the mutations in KSR2 had an increased drive to eat in childhood, but also a reduced metabolic rate, indicating that they have a reduced ability to use up all the energy that they consume. A slow metabolic rate can be found in people with an underactive thyroid gland, but in these patients thyroid blood tests were in the normal range - eliminating this as a possible explanation for their low metabolic rate. People have speculated for a long time that some individuals may burn calories more slowly than others. The findings in this study provide the first evidence that defects in a particular gene, KSR2, can affect a person's metabolic rate and how their bodies processed calories.

Professor Farooqi said: "Up until now, the genes we have identified that control body weight have largely affected appetite. However, KSR2 is different in that it also plays a role in regulating how energy is used in the body. In the future, modulation of KSR2 may represent a useful therapeutic strategy for obesity and type 2 diabetes."

Changes in diet and levels of physical activity underlie the recent increase in obesity in the UK and worldwide. However, there is a lot of variation in how much weight people gain. This variation between people is largely influenced by genetic factors, and many of the genes involved act in the brain. The discovery of a new obesity gene, KSR2, adds another level of complexity to the body's mechanisms for regulating weight. The Cambridge team is continuing to study the genetic factors influencing obesity, findings which they hope to translate into beneficial therapies in the future.

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Novel genetic mutations cause low metabolic rate and obesity

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PUBLIC RELEASE DATE:

24-Oct-2013

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

An international team of scientists has identified an association between heritable, rare mutations in the RINT1 gene and increased risk of early onset breast cancer, according to research reported today (Oct. 24) at the American Society of Human Genetics 2013 annual meeting in Boston.

The rare mutations in RINT1, a tumor suppressor gene, were detected in three of 49 families participating in a study that sequenced the whole exome, the protein-coding DNA, of families with multiple individuals affected by breast cancer.

"Although mutations in RINT1 are rare, it is most likely that the remaining unknown breast cancer susceptibility genes will account for similar small proportions of the disease," said Daniel J Park, Ph.D., who presented the study at ASHG 2013 and is Senior Research Fellow in genetic epidemiology at the University of Melbourne, Australia.

Only about 35 percent of the familial risk for breast cancer has been explained, according to Dr. Park and his collaborators, who added that the discovery of the RINT1 variants' association with the disease could help members of families with multiple cases of breast cancer to identify their individual risk for developing the cancer.

Dr. Park's collaborators in the search for unidentified breast cancer susceptibility genes are scientists at the Institute Curie in Paris, International Agency for Research on Cancer in Lyon, France, Huntsman Cancer Institute in Salt Lake City, Utah, as well as the University of Melbourne.

After pinpointing the first three mutations in RINT1 (p.Q115X, p.M378del and p.D403Y), the international team of scientists assessed the association between the variants and breast cancer risk by conducting a population-based case-control study of 1,313 women diagnosed with early-onset breast cancer. Rare RINT1 variants were uncovered in 23 individuals in this group, but in only 6 women out of 1,123 who did not have breast cancer, demonstrating a significant association between RINT1 mutations and risk of early onset breast cancer, according to the researchers.

In parallel, an additional 684 women with breast cancer who are members of multiple-case breast cancer families were screened for RINT1 mutations, and six additional rare mutations were identified.

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Mutations in novel tumor suppressor gene associated with early onset breast cancer

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Newswise HOUSTON -- ( Oct. 24, 2013 ) -- Just 13 days in space may be enough to cause profound changes in eye structure and gene expression, report researchers from Houston Methodist, NASA Johnson Space Center, and two other institutions in the October 2013 issue of Gravitational and Space Research.

The study, which looked at how low gravity and radiation and oxidative damage impacts mice, is the first to examine eye-related gene expression and cell behavior after spaceflight.

"We found many changes in the expression of genes that help cells cope with oxidative stress in the retina, possibly caused by radiation exposure," said Houston Methodist pathologist Patricia Chvez-Barrios, M.D., the study's principal investigator. "These changes were partially reversible upon return to Earth. We also saw optic nerve changes consistent with mechanical injury, but these changes did not resolve. And we saw changes in the expression of DNA damage repair genes and in apoptotic pathways, which help the body destroy cells that are irreparably damaged."

Since 2001, studies have shown astronauts are at increased risk of developing eye problems, like premature age-related macular degeneration. Experts suspect the cause is low gravity, heightened exposure to solar radiation, or a combination of the two.

In Nov. 2011, a NASA-sponsored Ophthalmology study of seven astronauts showed that all seven had experienced eye problems after spending at least six months in space. Doctors saw a flattening of the back of the eyeball, folding of the choroid (vascular tissue behind the retina), excess fluid around and presumed swelling of the optic nerve, or some combination of these.

High-energy radiation from the Sun can cause nasty, extremely damaging chemical reactions in cells, collectively called oxidative stress. Earth's atmosphere reflects or absorbs much of this radiation and is, ironically, a much better shield than the thick metal hulls of space shuttles and the International Space Station.

Damage to eyes isn't merely a long-term health issue for some astronauts back on Earth -- it could interfere with future missions in which any loss of focus or vision makes it difficult for humans to complete long missions, such as round-trip travel to Mars (12 to 16 months) or to the moons of Jupiter (about two years). If both radiation exposure and gravity loss are to blame, one solution to save astronauts' eyes might be a spacecraft with a more protective hull and inside, a spinning hamster wheel that simulates gravity similar to those envisioned by futurist author Arthur C. Clarke and realized in Stanley Kubrick's film, 2001: A Space Odyssey.

To determine the impact of radiation exposure on eyes, Chvez-Barrios and lead author Susana Zanello, Ph.D., a space life scientist at NASA Johnson Space Center, examined mouse retinal gene expression on the 1st, 5th, and 7th days following a 13-day trip aboard space shuttle Discovery (STS-133), measuring indicators of oxidative and cellular stress. The researchers also examined the eyes and surrounding tissues for broad changes in structure and shape that could relate to low gravity. They maintained two controls on Earth -- one in which mice were kept in the same general conditions as those aboard the shuttle, and one in which mice were maintained in typical, Earth-based care facilities.

Mice returning to Earth showed immediate evidence of oxidative stress in their retinas. But the increased expression of six oxidative stress response genes appeared to return to normal by the seventh day on Earth. An indicator of oxidative stress in the cornea was also elevated one day after mice had returned from orbit, but returned to near-normal levels by the seventh day.

"This suggests oxidative stress in the retina and lens are at least partially reversible under the circumstances of the experiment," Chvez-Barrios said. "This was after a relatively short time in orbit. We dont know if damage caused by longer periods of oxidative stress will be more severe. Only more studies with longer exposure times may help answer this question."

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Just Two Weeks in Orbit Causes Changes in Eyes

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October 24, 2013

Lee Rannals for redOrbit.com Your Universe Online

Researchers at the American Society of Human Genetics 2013 meeting in Boston say they have discovered an interaction that could explain the link between eating meat and colorectal cancer risk. The team said the newly discovered potential gene-diet interaction for colorectal cancer could shed light on the statistically significantly increased risk of the cancer that is associated with the consumption of red and processed meats.

If replicated, our findings have a relevant public health significance because diet is a modifiable risk factor for colorectal cancer, saidJane Figueiredo, Assistant Professor of Preventive Medicine at the University of Southern California Keck School of Medicine. It is conceivable that selected individuals at higher risk of colorectal cancer based on genomic profiling could be targeted for screening, diet modification and other prevention strategies.

Scientists determined that lower colorectal cancer risk associated with vegetable, fruit and fiber intake was also linked to genetic variants. Ulrike Peters, a Member of the Fred Hutchinson Cancer Research Centers Public Health Sciences Division who headed the study, said the teams research represents an important new insight into disease development.

This is the first colorectal cancer investigation with the statistical power to identify gene-dietary interactions across the genome of a large population of individuals. The study included 9,287 patients with colorectal cancer and a control group of 9,117 individuals without cancer, all of whom were participants in the 10 Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) observational studies.

Scientists searched 2.7 million gene variants to identify those that are associated with the consumption of red meat and processed meat as well as fruits and vegetables. The genetic sequences and information about the participants medical history and diet are stored in the GECCO database.

The team found a significant interaction between the genetic variant rs4143094 and processed meat consumption. This variant can be found on the same chromosome 10 region that includes a transcription factor gene previously linked to several forms of cancer. They also found a statistically significant diet-gene interaction in another variant located on chromosome 8, which was associated with a reduced risk of colorectal cancer.

Researchers believe that digestion of processed meats may promote an immunological or inflammatory response that triggers tumor development. The transcription factor gene on chromosome 10 normally helps suppress the immunological or inflammatory response, but instead it contains a mutation that could encode a dysregulated transcription factor that impacts its ability to suppress the response.

Peters said that in addition to uncovering a novel gene-diet interaction for colorectal cancer, the study may have important implications for understanding the underlying causes and biological pathways of cancer.

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Gene-Diet Interaction Explains Link Between Meat And Colorectal Cancer

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PUBLIC RELEASE DATE:

24-Oct-2013

Contact: John Bean john.bean@eortc.be European Organisation for Research and Treatment of Cancer

Results of EORTC trial 58951 suggest that detecting ERG gene deletion at diagnosis of childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) would be useful for risk stratification. The study, published in Leukemia showed that patients with the ERG gene deletion had a very good outcome with an 8-year event-free survival of 86.4% and an overall survival of 95.6%.

ALL is the most common childhood malignancy, but it is characterized by a number of recurring genetic alterations. These alterations, each with a specific gene expression profile, can influence response to treatment. For example, high hyperdiploidy and the chromosomal translocation t(12;21)/ETV6RUNX1 are the most prevalent alterations in young children and are associated with good treatment response and outcome. On the other hand, t(9;22)/BCRABL1, rearrangements of the MLL gene, low hypodiploidy, intrachromosomal amplification of chromosome 21 (iAMP21) are all associated with a high risk of relapse. In addition, IKZF1 gene deletion has been recently described as a strong marker of poor outcome.

Dr. Emmanuelle Clappier of the Hematology University Institute, St-Louis and Robert Debr Hospitals in Paris and lead author of this EORTC publication says, "The genetic basis of BCP-ALL is still unknown for a significant proportion of cases, and consequently outcome is unpredictable at the time of diagnosis. This is especially true for older children and adolescents, more than half of whom display no classifying genetic alteration. There is a clear need for new biological markers to assist in making treatment decisions and improve outcome for these patients."

A genomic deletion in the ERG gene was identified by array-CGH analysis in selected patients. Then an independent non-selected cohort of 897 children aged 1-17 years and treated for BCP-ALL in the EORTC 58951 trial between December 1998 and July 2008 was screened for ERG gene deletions. ERG gene deletion was found in 3.2% of the patients (29 out of the 897 patients) and was associated with higher age (median age 7.0 years versus 4.0 years, P=0.004) and frequent IKZF1 4-7 deletions (37.9% versus 5.3% in the remaining patients, P<0.001). For patients with an IKZF1 4-7 deletion, those who also had ERG gene deletion had a better outcome (8-year event-free survival, 85.7% vs. 51.3%, HR: 0.16, 95% CI: 0.02-1.20, P=0.04). This work allowed the description of a new genetic marker in BCP-ALL, ERG gene deletion, and to refine the prognostic impact of IKZF1 deletions.

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EORTC trial 58951 was coordinated by the EORTC Children's Leukemia Group and was conducted in 25 sites located in Belgium and France. It was an academic trial supported by the Laurette Fugain Foundation and the EORTC Charitable Trust.

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EORTC study suggests detecting ERG gene deletion useful for risk stratification in childhood ALL

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