Archive for the ‘Gene Therapy Research’ Category

By Tedra DeSue - August 3, 2012 | Tickers: BAX, OSIR | 0 Comments

Tedra is a member of The Motley Fool Blog Network -- entries represent the personal opinions of our bloggers and are not formally edited.

Advances continue to be made in the field of regenerative medicine, with many products and procedures being made possible from stem cell therapy. While large companies are making headway in this area, many small companies are just as active, raising much-needed funds through the capital markets.

The main challenge all of these companies face is convincing naysayers that their research and subsequent results are ethical. There has been much ado about regenerative medicine efforts that involve stem cells. This has especially been the case for research and therapy involving human embryonic stem cells. For this reason, investors who may be bullish about the industry may avoid these stocks.

The stem cell market is expected to grow to be a $5.1 billion industry by 2014. One of the reasons stem cell research is important to these companies is that it can help them grow their pipelines, according to a research report on the industry Stem Cells in Regenerative Medicine: Benchmarking Analysis of Big Companies Entering the Market.Researchers also see stem cell research as a way to find out the effectiveness of therapies without having to use animals for testing.

Lets take a look at a few of the public companies that have made strides in the stem cell therapy space.

One of the largest pharmaceutical companies active in the stem cell therapy space is Baxter Healthcare (NYSE: BAX). It is in the process of developing stem cell therapy for people who suffer from chronic myocardial ischemia or CMI. The condition stems from coronary artery disease. The company is in the midst of clinical trials to prove that its therapy can repair damaged heart muscles. Its referred to as stem cell therapy CD34+.

Also noteworthy for Baxter is a purchase it made last year. It bought Synovis Life Technologies, which made a name for its self because of the mechanical and biological products it made to repair soft tissue. The acquisition is expected to help Baxter further expand its offerings in the biosurgery and regenerative treatment.

Osiris Therapeutics (NASDAQ: OSIR) accomplished an important feat in the stem cell space by becoming the first company in the world to be able to market its stem cell therapy called Prochymal. On that news in May, its stock traded 20% higher, indicating that investors have more confidence in stocks in this space when they have some kind of meaningful approval by regulators. This product was approved by Health Canada.

Now the company is embroiled in a battle over Prochymal with a French pharmaceutical company that it partnered with to test the therapy. News that the sides have been unable to resolve their differences sent Osiriss stock lower this week. At the time of writing, it had lost 5.32% of its value and was trading around $9.

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Stem Cell Therapy Space Worth Review for Investors

by Stephanie Russo - Aug. 1, 2012 06:22 PM The Republic | azcentral.com

Former Arizona banking executive Gene Rice died on Monday.

Rice, 82, who died in Phoenix, ran MeraBank, the state's largest savings and loan, until 1990, when the failed thrift was taken over by the federal Resolution Trust Co. Rice's uncle founded the thrift in 1936 as First Federal Savings. Rice was a longtime executive and began serving as the chief executive officer in 1984.

In later years, Rice ran a commercial brokerage business, Gene Rice Financial. He also had a small mortgage company and owned another business that sold bank-card processing equipment to small businesses.

He was an active consultant, financial adviser and mentor during his retirement. Arizona House Speaker Andy Tobin said Rice's mentoring encouraged people to finish college, join community service groups and continually work hard. He said Rice pushed his employees and friends to "aspire to great heights."

"In the days when our communities were planning Arizona's future, when leaders were needed to support local charities and inspire young people to build a greater Arizona, we were all fortunate enough to have Gene Rice fill that need," Tobin said in a statement released Tuesday.

A memorial service will be held for Rice on Thursday at 1:30 p.m. at St. Francis Xavier, 4715 N. Central Ave., Phoenix.

In lieu of flowers, the family requested that donations be made to the Inflammatory Breast Cancer Research Foundation.

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Longtime banker Gene Rice dies

Feb. 20, 1927 - July 30, 2012

W.E. "Gene" Deskins, a professor and mathematician who was chairman of the math department at the University of Pittsburgh during the 1970s and 1980s, enjoyed being in the classroom.

"He loved to teach. He loved finding students who really enjoy math," said his daughter, Samantha E. Deskins of Austin, Texas.

Mr. Deskins died Monday in his Point Breeze home. He was 85 and had been suffering from dementia.

He was a native of Morgantown, W.Va., and received a bachelor's degree from the University of Kentucky and master's and doctoral degrees from the University of Wisconsin-Madison.

His area of research was in classic group theory, a branch of modern algebra, said Charles Cullen, an associate professor emeritus at Pitt and a department colleague of Mr. Deskins.

Mr. Deskins was a frequently published scholar and a lecturer and invited speaker at various academic gatherings in this country and abroad.

Beginning in the early 1950s, he taught at Wisconsin and later at Ohio State and Michigan State universities. By then, he had developed an affinity for Pittsburgh, He traveled a number of times from Columbus, Ohio, to attend Pittsburgh symphony performances and eventually made this city his home, his daughter said.

In 1971, Mr. Deskins came to Pitt as a professor and chairman of the mathematics department. After stepping down from the chairmanship in 1987, he became associate dean of what was then called Pitt's college of arts and sciences, a position he held until retiring from Pitt in 1995 as a professor emeritus.

"He did a great deal to strengthen the research abilities of the mathematics department," Mr. Cullen recalled.

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Obituary: W.E. 'Gene' Deskins / Math professor cultivated students and garden

Public release date: 3-Aug-2012 [ | E-mail | Share ]

Contact: Julie O'Connor julie.oconnor@wayne.edu 313-577-8845 Wayne State University - Office of the Vice President for Research

DETROIT Wayne State University researchers are testing a way to determine the status of fetal chromosomes that could lead to healthier outcomes for mothers and their babies.

Supported by a two-year, $418,000 exploratory/developmental grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health, the researchers will capture human fetal cells for genetic study within the first two months of pregnancy using a newly developed, safe, noninvasive retrieval technique similar to a Pap test.

D. Randall Armant, Ph.D., and Michael P. Diamond, M.D., professors of obstetrics and gynecology in Wayne State's School of Medicine, are the principal investigators of the study. Susan Land, Ph.D., associate professor of obstetrics and gynecology, is a co-investigator.

Titled "Genetic Analysis of Human First Trimester Trophoblast in Ongoing Pregnancies," the project targets cells called trophoblasts, which surround the blastocyst, a cluster of cells that results from successful fertilization. Researchers are particularly interested in "invasive" trophoblasts, which attach the blastocyst to the uterine wall; the cells become the placenta and the membranes that nourish and protect the developing organism.

Such cells carry genetic material from the fetus. Armant's team will gather them through transcervical sampling, a method that uses a cytobrush inserted into the cervix. Researchers believe the technique is less intrusive than previously used methods, yields intact fetal cells and can be done as early as six to 12 weeks; doctors typically must wait 10 to 14 weeks to use other methods, which can carry more risk to mothers and fetuses.

"The earlier you get the information, the more time the doctor has to manage whatever problems are coming up during or after the mother's pregnancy," Armant said. "It also gives the parents more time to make decisions about the pregnancy."

Researchers will isolate trophoblasts using immunomagnetic nanotechnology, taking advantage of unique proteins on the surface of fetal cells. Highly sensitive genetic tools capable of analyzing single cells will verify the fetal origin of captured cells before their DNA is analyzed for chromosome number.

Armant said that tests based on fetal cells obtained from the cervix eventually could alert doctors to things like ectopic pregnancy, miscarriage, preterm labor, poor fetal growth, preeclampsia, fetal Rh incompatibility and chromosome number disorders, like Down syndrome. It also could help detect inherited genetic diseases, such as muscular dystrophy, sickle cell anemia and hemophilia.

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Wayne State researchers working to improve genetic analysis, disorder detection

03 August 2012 | last updated at 12:51AM By Mahaizura Abdul Malik | johor@nst.com.my 0 comments

A faculty staff (left) shows FPREE deputy dean Issham Ismail an equipment to be used in the nuclear engineering course. Pic by Mahaizura AbdMalik

JOHOR BARU: Universiti Teknologi Malaysia (UTM) is introducing a nuclear engineering degree programme, the first such programme in Malaysia, in September, in an effort to produce professionals in the field.

UTM's Faculty of Petroleum and Renewable Energy Engineering (FPREE) dean Prof Dr Ariffin Samsuri said the course had been approved by the Higher Education Ministry.

"The course is offered to meet current needs. It is expected that by 2020, the country would need additional energy sources," he said at a press conference recently.

"Nuclear energy is widely used in the fields of genetic engineering, agriculture and manufacturing. It is seen as an alternative source of energy and one of the cheapest to produce.

"Even though nuclear energy is one of the cleanest sources, there are issues regarding its safety. The new programme will focus on the safety aspects, including its effects on the environment. The programme also meets the standards of the International Atomic Energy Agency," he said.

Ariffin said the first group of students for the four-year course will comprise 30 local students.

He said those who are interested to apply must have a Sijil Tinggi Pelajaran Malaysia, matriculation or diploma holders with a cumulative grade point average (CGPA) of at least 3.0.

"Students will undergo a 12-week training according to the Malaysian Engineering Accreditation Council requirements at the Atomic Energy Licensing Board in Dengkil, Selangor," "We hope the programme will produce nuclear engineers who will serve in Malaysia and abroad," he said.

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UTM offers nuclear engineering degree

Public release date: 2-Aug-2012 [ | E-mail | Share ]

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

New Rochelle, NY, August 2, 2012National guidelines recommend the use of therapeutic hypothermia to improve outcomes in patients who suffer a heart attack outside of a hospital. The results of a survey of all 73 acute care hospitals in New Jersey evaluating the adoption and implementation of this life-saving treatment from 2004-2011 is published in Therapeutic Hypothermia and Temperature Management, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Therapeutic Hypothermia and Temperature Management website at http://www.liebertpub.com/ther.

Therapeutic hypothermia (TH) involves reducing the body temperature to below normal levels for a prolonged period to minimize the potential damage caused by traumatic or ischemic injury that reduces blood flow to the tissues.

Factors contributing to the initially slow and more recently accelerated implementation of TH in New Jersey hospitals are described by Derek DeLia and colleagues from Rutgers University (New Brunswick, NJ), University of Alabama at Birmingham, Saint Barnabas Medical Center (Livingston, NJ), and Newark Beth Israel Medical Center (Newark, NJ). The authors discuss the wide variation observed in the criteria for patient selection for TH across hospitals and the impact that variations in TH use can have on patient care in the article "Post-Cardiac Arrest Therapeutic Hypothermia in New Jersey Hospitals: Analysis of Adoption and Implementation."

"This communication is important because it focuses on the need of continued adoption and utilization of therapeutic hypothermia targeting cardiac arrest," says W. Dalton Dietrich, PhD, Editor-in-Chief of the Journal and Kinetic Concepts Distinguished Chair in Neurosurgery, Professor of Neurological Surgery, Neurology and Cell Biology and Anatomy, University of Miami Leonard M. Miller School of Medicine. "It is hoped that this journal will continue to provide guidance as more hospitals and treating physicians use this beneficial treatment in limiting the devastating consequences of brain injury."

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About the Journal

Therapeutic Hypothermia and Temperature Management provides a strong multidisciplinary forum to advance the understanding of therapeutic hypothermia. Novel findings from translational preclinical investigations as well as clinical studies and trials are featured in original articles, state-of-the-art review articles, provocative roundtable discussions, clinical protocols, and best practices. Therapeutic Hypothermia and Temperature Management is the journal of record, published in print and online with open access options. Complete tables of content and a sample issue may be viewed on the Therapeutic Hypothermia and Temperature Management website at http://www.liebertpub.com/ther.

About the Publisher

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Implementing a therapeutic hypothermia program for post-cardiac arrest in acute care hospitals

Public release date: 2-Aug-2012 [ | E-mail | Share ]

Contact: William Raillant-Clark w.raillant-clark@umontreal.ca 514-343-7593 University of Montreal

This press release is available in French.

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers will be publishing their findings tomorrow in The American Journal of Human Genetics.

Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until today.

Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. The ET research team was successful in identifying mutations that cause ET in this gene, and they also proved that the disease mechanisms for ET and ALS FUS mutations are different. "When I started my post-doctoral work in the Rouleau laboratory, I felt compelled to study essential tremor. I saw a great opportunity to identify the first ET gene considering the plethora of families collected for study in the laboratory, and the availability of new sequencing technologies that has revolutionized gene discovery efforts," said lead author Dr. Nancy Merner. "As a proof of principle study, we chose one family to sequence and took a simple approach to overcome particular clinical barriers that have hindered previous gene discovery attempts."

The other members of the research team share her clinical focus. "This discovery has provided the world with the first insight toward the disease mechanism of essential tremor, which is crucial for disease management, particularly for future drug developments. It also presents a logical approach that can be used for additional ET gene discoveries, which we are currently pursuing" said Dr. Guy Rouleau. "There is currently a lack of consensus on the diagnostic criteria of ET thus a genetic diagnosis can be beneficial, especially for familial cases. Transitioning to a genetic diagnosis would cut down on ET misdiagnosis," added Dr. Patrick Dion who is another key researcher on this project. Misdiagnosis occurs in 37-50% of individual cases.

To affected individuals, the tremors are generally annoying and embarrassing, and can interfere with everyday tasks such as working, writing, eating, or drinking, since tremors affecting the hands are the most common and affected individuals can have trouble holding or using small objects. "Our overall goal in this endeavor is to improve the quality of life of affected individuals," said Dr. Merner. "The road is now paved for improvement."

The identification of FUS was performed in the Rouleau laboratory and supported by the Chaire Jeanne-et-J.-Louis-Lvesque en Gntique des Maladies du Cerveau de l'Universit de Montral. The Canadian Institutes of Health Research has also funded the pursuit for additional ET genes.

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Researchers find genetic cause for body tremors

Public release date: 2-Aug-2012 [ | E-mail | Share ]

Contact: Elisabeth Lyons elyons@cell.com 617-386-2121 Cell Press

Genetics clearly plays a role in cancer development and progression, but the reason that a certain mutation leads to one cancer and not another is less clear. Furthermore, no links have been found between any cancer and a type of genetic change called "copy-number variants," or CNVs. Now, a new study published by Cell Press in The American Journal of Human Genetics on August 2 identifies CNVs associated with testicular cancer risk, but not with the risk of breast or colon cancer.

Some cancers, including breast and colon cancer, are caused by mutations that are passed from one generation to the next. However, most cancers, including testicular cancer, are sporadicthey arise without a family history of cancer. Many of these sporadic cancers result from genetic mutations in germ cellsthe cells involved in reproductioneven though neither parent has the mutation. Scientists call these "de novo" mutations.

In order to identify rare de novo mutations associated with cancer risk, Dr. Kenneth Offit and colleagues searched for CNVs, which are duplications or deletions of one or more sections of DNA, in cancer patients and their cancer-free relatives. They found a significant increase in the number of rare de novo CNVs in individuals with testicular cancer as opposed to breast or colon cancer. Although such CNVs have been associated with autism and other neurocognitive and cardiovascular disorders, they were not previously known to be associated with cancer.

The authors propose that de novo changes (as opposed to those inherited from parents) might be indicative of conditions that have traditionally resulted in reduced fertility. Although modern treatment regimens allow more than 90% of men with testicular cancer to live long and reproductive lives, the condition traditionally left affected men childless. "We speculate that the paradigm of a de novo germline disease etiology may be less applicable to late-onset cancers," says Offit, "in part explaining the lower frequency of de novo events we found in adult-onset breast and colon cancer cases." Pinpointing the specific genetic changes that lead to cancer development will improve the understanding of the origins of cancer, leading to new treatment strategies and ultimately easing the burden on those afflicted with these diseases.

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Stadler et al.: "Rare De Novo Germline Copy-Number Variation in Testicular Cancer."

ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS

The American Journal of Human Genetics (AJHG) is ASHG's official scientific journal, published by Cell Press. AJHG is the most highly regarded peer-reviewed journal dedicated to studies in human genetics and earned an impact factor of 11.680 in 2011. AJHG provides cutting-edge research and review articles related to genetics and genomics and the application of genetic principles in health, disease, medicine, population studies, evolution, and societal impacts. For more information about AJHG, visit: http://www.ajhg.org.

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Genetic copy-number variants and cancer risk

Will Explore Major Advancements, Innovations, Challenges, and Evolving Business Models

Newswise As advancements in genetic testing, personalized medicine and molecular diagnostics continue to reach new heights, they are also facing the growing pains and challenges of an emerging industry struggling with policy, regulatory framework, industry standards, and product commercialization.

At the 4th Annual Consumer Genetics Conference, the fields preeminent researchers, clinicians, government regulators and industry leaders will provide their varying perspectives on this evolving field, and the crucial topics surrounding its implications to clinical health and medicine. In this highly interactive forum, panel participants will represent a broad spectrum of viewpoints, and will engage in an open discussion on best practices and policies, as well as new advancements and challenges. Through the course of this dynamic exchange, the future of consumer-based genetics will be explored, examined, and shaped.

Major themes to be covered at this conference include: Big Data/Analysis, Molecular Diagnostics, Sequencing, Translational Genomics, Venture Capital and Investment Banking, Genome Data: The Physicians Perspective, Genome Interpretation, Visions for Personalized Medicine, Prenatal/Neonatal Diagnostics, Nutrition, Food Genetics and Cosmetics, Disease Diagnostics, The Empowered Patient, and Consumer Genetics Companies

Please note, a significant discounted price to this conference is available until end-of-day August 3.

Forum: 4th Annual Consumer Genetics Conference When: Wednesday, October 3 to Friday, October 5 Where: Seaport Hotel, Boston, MA Registration & Program Schedule: http://www.consumergeneticsconference.com Media Registration & Interviews: lynn.blenkhorn@fkhealth.com or 508-851-0930 For More Information: Cambridge Healthtech Institute at 781-972-5400

Program Highlights Include:

Keynote: Lee Silver, Ph.D., Professor of Molecular Biology and Public Affairs, Woodrow Wilson School, Princeton University, Self-Discovery in the Age of Personal Genomes

Keynote: Jay Flatley, President and CEO, Illumina, The Big Picture: Visions for Personalized Medicine

Keynote: Kenneth Chahine, Ph.D., J.D., Senior Vice President and General Manager, DNA, Ancestry.com, An Inside Look at How AncestryDNA Uses Population Genetics to Enrich Its Online Family History Experience

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4th Annual Consumer Genetics Conference to Examine the Key Issues Facing Clinical Genetics, Personalized Medicine ...

Winning government approval would be the first step in increasing public confidence in personalized genetic testing

Maciej Frolow / Photodisc / Getty Images

Earlier this week, the personal gene-testing company 23andMe announcedthat its seeking the blessing of the Food and Drug Administration (FDA) for its DNA tests that allow people to peer into their genetic makeup.

If the FDA grants approval, it would be a major step forward for the growing industry springing up around genetic testing. Every day, it seems, scientists are reporting new gene-based discoveries that allow them to better pinpoint the causes of disease. As technology becomes increasingly sophisticated, single-gene tests are being joined by the sort of genotyping technology used by 23andMe, which scans about 1 million points on the genome that are known to vary among humans. An even more complex technique, genomic sequencing, looks at about 3 billion points that cover a persons entire genetic code. 23andMe the name is a reference to the 23 pairs of chromosomes that comprise a persons genome intends to eventually offer sequencing, but the cost starts at around $4,000, which is considerably more expensive than the $299 the company charges for its testing.

Not only is sequencing more costly, but it also uncovers a trove of data that researchers have yet to fully understand. Even among the more targeted areas of the genome that 23andMe examines, there is much information that remains murky if not elusive. Of the 1 million points we look at, theres only a fraction of those that science can tell us anything about, says Ashley Gould, 23andMes vice president for corporate development and its chief legal officer.

Since 23andMe began offering testing in late 2007, more than 150,000 people have become clients. The vast majority have been adults, although parents can give consent for their children to participate. Our goal is to get 1 million in our database, says Gould. Having more people will increase our power to conduct research. There is immense power in coming together to progress research.

(MORE: 23andMe Seeks FDA Approval for Personal DNA Test)

The company was co-founded by Anne Wojcicki, who is married to Google co-founder Sergey Brin. Her bio on the company website explains why shes interested in personal genetics, expressing her hope that the company will create a common, standardized resource that has the potential to accelerate drug discovery and bring personalized medicine to the public. (Plus, getting access to her own genetic information and understanding it has always been one of Annes ambitions.)

The $299 fee includes processing of a saliva sample via a collection kit the company sends out. The data gleaned from the sample is shared with users via a secure website. Customers also have access to the companys ancestry features, which have helped people track down relatives. There are 242 health reports available for different conditions, enabling users to learn more about traits like freckling or eye color as well as carrier status for cystic fibrosis, for example, and risk for diseases such as Alzheimers. As new literature is published, we add new reports, says Gould.

When data reveals increased risk for certain diseases, 23andMe offers up videos that share more detailed information about that specific condition. The company also has a relationship with a nationwide genetic counseling service that users can call for an appointment.

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Personal Genetic Testing: Can DNA Discovery Go Mainstream?

--Genetics Expert Is Program Director of 22q and You Center at The Childrens Hospital of Philadelphia--

Newswise Philadelphia, Aug. 2, 2012 --Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the 22q and You Center at The Childrens Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

The Angelo DiGeorge Medal recognizes outstanding contributions to understanding and/or treatment of chromosome 22q.11.2 deletion syndrome, a relatively common multisystem genetic disorder. The International 22q11.2 Deletion Syndrome Consortium established the award in 2010 to commemorate the life and work of the late Dr. DiGeorge, a Philadelphia pediatrician at St. Christophers Hospital for Children who described aspects of the syndrome in the medical literature nearly 50 years ago.

In presenting this award to Ms. McDonald-McGinn, Dr. Peter Scambler of Great Ormond Street Hospital for Children in London praised her singular breadth of achievement and dedication. He particularly singled out her work in recently co-authoring an important scientific article that presents best practice recommendations for patients with this syndrome.

Chromosome 22q.11.2 deletion syndrome is a congenital disorder that occurs when a portion of the DNA on chromosome 22 is missing. It occurs in about 1 into 2,000 to 1 in 4,000 births, making it nearly as common as Down syndrome. The loss of genetic material has multiple effects, which may include abnormalities in the immune system, the heart, the endocrine system, facial features and cognitive abilities.

Over the years, researchers have found that deletions on this section of chromosome 22 are an underlying cause of various clinical diagnoses, known by such names as DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, among others.

The Childrens Hospital of Philadelphia has a long history of studying chromosome 22q11.2 deletion syndrome. Elaine Zackai, M.D., the medical director of the 22q and You Center, recalls that she saw a child with DiGeorge syndrome in 1982, and realizing that the patient had more than the usual findings, suggested doing a chromosomal analysis. Her colleague, Beverly Emanuel, Ph.D., now the Hospitals chief of Human Genetics, discovered the actual deletion in chromosome 22, and ultimately developed a diagnostic test.

Shortly after Childrens Hospital developed this laboratory test in 1992, Ms. McDonald-McGinn was instrumental in launching the Hospitals 22q and You Center, which draws patients from throughout the world. She has published more than 80 articles on this deletion syndrome, has served as a tireless advocate for children and families, and has spent countless hours working on support and educational events related to this condition.

Dr. Zackai added that Donna McDonald-McGinn has unique qualities: being very smart and savvy, having the ability to bring the right people together, and being the glue that holds them togetherShe is innovative, ambitious, never stops until the job is done, and then goes the extra mile looking toward the future.

About The Childrens Hospital of Philadelphia: The Childrens Hospital of Philadelphia was founded in 1855 as the nations first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Childrens Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

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DiGeorge Medal Honors Genetics Expert for Longstanding Work on Chromosome Deletion Syndrome

According to the Australian Bureau of Statistics, a baby girl born today can expect to live to almost 84, while a boy is expected to live to 80. Photo: Tanya Lake

THE reason women live roughly four years longer than men in Australia may not solely be down to their reduced rate of obesity, risky behaviour and smoking. According to research published today, it's down to genetics.

Both men and women have mitochondrial DNA but researchers from Monash University and Lancaster University in England, found that only females were immune to mutations carried in the mitochondria, which is found in every cell of the body.

This ''evolutionary quirk'' means males are more susceptible to the mutations, which cuts their life expectancy.

''A significant genetic difference in lifespan between men and women can be traced back to the mitochondria,'' said Monash University evolutionary biologist Damian Dowling.

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''This difference is not caused by hormonal differences between the sexes, such as testosterone in males, or to risk-taking behaviour. It's genetic.''

According to the Australian Bureau of Statistics, a baby girl born today can expect to live to almost 84, while a boy is expected to live to 80.

Mitochondria are found around the nucleus of cells. Often described as the powerhouse of cells due to their responsibility for producing energy, mitochondria have also been tied to the ageing process.

Only the mother passes it on to her children.

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Genetics gives women the edge

Newswise The Genetics and Public Policy Center at the Johns Hopkins Berman Institute of Bioethics has launched a new study on the policy challenges of incorporating whole genome sequencing (WGS) technology into medical care. The three-year study, which commenced August 1, is funded by a $1.7 million grant from the National Human Genome Research Institute (NHGRI) and is a collaboration between the Genetics and Public Policy Center (GPPC), Baylor College of Medicine, Duke University and the Center for Medical Technology Policy.

Since the human genome was sequenced, the next challenge has been translating our evolving knowledge of genomic sequence to practical patient care, says David Kaufman, PhD, the GPPCs director of Research and Statistics, who will lead the study with Amy McGuire, JD, PhD, at Baylor College of Medicine. This study will identify the most pressing policy issues of genomic healthcare and make recommendations to address them, Kaufman says.

The study will take a two-fold approach, first analyzing the emerging clinical WGS industry and gathering first-person assessments of the critical issues from industry leaders. The study will then work with a panel of stakeholders representing a broad range of interests to prioritize these challenges, and examine how they are or are not addressed by current regulatory frameworks. Policy approaches will be developed to address three high-priority issues, one from each area of the team's expertise: test quality and validity, healthcare reimbursement, and intellectual property.

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About The Genetics and Public Policy Center The Genetics and Public Policy Center was created in 2002 at the Johns Hopkins Berman Institute of Bioethics with funding from Pew Charitable Trusts, to help policymakers, the press and the public understand and respond to the challenges and opportunities of genetic medicine and its potential to transform global public health. For more information: http://www.dnapolicy.org/

About the Johns Hopkins Berman Institute of Bioethics One of the largest centers of its kind in the world, the Johns Hopkins Berman Institute of Bioethics is the home for collaborative scholarship and teaching on the ethics of clinical practice, public health and biomedical science at Johns Hopkins University. Since 1995, the Institute has worked with governmental agencies, nongovernmental organizations and private sector organizations to address and resolve ethical issues. More information is available at http://www.bioethicsinstitute.org.

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JHU Genetics and Public Policy Center To Study Genomic Healthcare Challenges

RUTHERFORD, NJ--(Marketwire -08/02/12)- Cancer Genetics, Inc. (CGI), a leader in cancer diagnostics, announces that it has been selected by Roche Servicios S.A., an affiliate of the Swiss drug maker Roche based in Costa Rica, as its partner for cancer testing. Under this service agreement, CGI performs highly complex testing intended to provide information for the diagnosis and prognosis of cancer patients. Services provided by CGI help Roche Servicios in delivering quality results to clinicians based in 14 different locations covering Central America and Caribbean Islands. The assessed biomarkers are related to the most prevalent cancers in those regions which also correspond to the primary cause of cancer related mortality. With this partnership, Roche Servicios S.A. and CGI join their efforts to commit to personalized medicine where molecular biology and advanced technologies provide crucial genomic information that can be used for better prediction outcome and targeted treatment. Personalized medicine and genomic testing drive positive impacts on the outcomes for the patients by improving treatment efficacy, providing greater insight to the disease and reducing the cost of healthcare by guiding better directed treatments.

"Roche Servicios has had a great experience working with CGI. On one side, since the beginning, they understood our needs and requirements and most importantly consistently delivered the service we required. Moreover, together we have been able to add and improve the processes to meet our customer needs, allowing us to offer high quality results and in a very short time to our patients," mentioned Alvaro Soto, Roche Central America and the Caribbean's General Manager. "This commitment with Roche's vision and values to offer to patients the best service to improve their lives, has made CGI a true business partner for Roche Servicios, SA," added Soto.

Commenting on the partnership, Panna Sharma, CEO and President of CGI, says, "Partnering with Roche Servicios is an important element of placing genomic and state-of-the-art biomarker based cancer testing into the community. Genomics will drive change in patient quality and healthcare costs by being incorporated globally into the routine testing paradigm, and with a partner like Roche we have the opportunity to make a significant impact. We share the same philosophy of placing the patients' interest first."

CGI will initially target testing for solid tumors and will work in close conjunction with Roche for expansion into other oncology categories.

About CGICancer Genetics, Inc. (CGI) is an emerging leader in the field of personalized medicine, offering products and services that enable cancer diagnostics as well as treatments that are tailored to the specific genetic profile of the individual. CGI is committed to maintaining the standard of clinical excellence through its investment in outstanding facilities and equipment. Our reference laboratory is both CLIA certified and CAP accredited and GLP compliant. In addition we have approvals and accreditations from the states of Florida, Maryland, New York, and New Jersey. The company has been built on a foundation of world-class scientific knowledge and IP in solid and blood-borne cancers, as well as strong research collaborations with major cancer centers such as Memorial Sloan-Kettering and the National Cancer Institute.

CGI's dedicated staff takes pride in our specialized laboratory services, superior turnaround time (TAT), enhanced reporting, EMR integration, and ongoing research and development for new tests. CGI's full-service cancer genetic practice and path to innovation with research makes for optimal patient care management.

For further information, http://www.cancergenetics.com

About Roche Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world's largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche's personalized healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2011, Roche had over 80,000 employees worldwide and invested over 8 billion Swiss francs in R&D. The Group posted sales of 42.5 billion Swiss francs. Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan.

For more information: http://www.roche.com.

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Cancer Genetics, Inc. Selected by Roche Servicios S.A. to Provide Services for the Diagnosis and Personalization of ...

Public release date: 2-Aug-2012 [ | E-mail | Share ]

Contact: Jane E. Rubinstein jrubinstein@rubenstein.com 212-843-8287 Autism Speaks

New York, N.Y. (August 2, 2012) Autism Speaks, the world's leading autism science and advocacy organization, today announced its expanded collaboration with Sigma Advanced Genetic Engineering (SAGE) Labs, an initiative of Sigma Life, to develop the first rat models with modified autism associated genes, intended to accelerate discovery and translational autism research.

Expansion of the collaboration follows initial behavioral studies demonstrating that the first two publicly available gene knockout rats, part of the seven rats generated through the collaboration to date, exhibit hallmark characteristics of autism, such as social deficits and repetitive behaviors. Many behavioral characteristics of autism observed in these rats are not seen in other animal models currently used for autism research. SAGE Labs and Autism Speaks now plan to generate additional genetically modified rat models of key autism-associated genes, including CNTNAP2 and MET.

"Autism spectrum disorders are a complex condition with significant unmet medical needs. Although uniquely human, fundamental aspects of the biology underlying autism can be effectively modeled in animals to advance our understanding of cause and enable translation of basic scientific discovery into medical breakthroughs that improve the quality of life for individuals on the spectrum," says Robert Ring, Ph.D., Vice President of Translational Research at Autism Speaks. "These new autism-relevant rat models have already demonstrated great potential for the field. Our new agreement ensures that additional models will continue to be developed and made available to accelerate progress along the entire translational research continuum, from academia to the pharmaceutical industry."

"Modeling human conditions in rats, rather than the mice that have come to predominate preclinical studies, enables more predictive studies of complex neurobehavioral conditions. Rats are unique in that they exhibit richer, more human-like social behaviors than mice, juvenile play being one example. The more complex neural circuitry and greater cognitive capacity in rats also enables researchers to complete many of the demandingand crucially informativecognitive tests that mice cannot perform. In addition, on a practical level, performing initial studies in rats also provides a direct path for drug development," says Edward Weinstein, Ph.D., Director of SAGE Labs.

Initial behavioral studies of the gene knockout rats generated by SAGE Labs are being conducted by Richard E. Paylor, Ph.D., Professor at the Baylor College of Medicine. In some cases, behaviors observed in the rat models have differed from existing mouse models. For example, whereas FMR1 knockout mice exhibit elevated social interactions, rats lacking the same gene participate much less in social play and emit fewer ultrasonic squeaks during play sessions than control rats. These types of social impairments, such as reduced verbal and interactive play, more closely parallel social behavior symptoms seen in humans with FMR1 mutations. Rat models lacking functional NLGN3 and FMR1 genes also display other unexpected characteristics, including compulsive chewing on water bottles and wood blocks. Compulsive and repetitive behaviors are core symptoms in individuals with autism spectrum disorders.

"At SAGE Labs we use CompoZr Zinc Finger Nuclease technology to perform targeted genetic modifications in species previously not amenable to such modifications be it gene knockout, transgene insertion, point mutations, or conditional gene knockout. We can help researchers and pharmaceutical companies access rats, rabbits and other species that best model a medical condition of interest and provide a direct path for preclinical efficacy and toxicology testing," says Weinstein.

Currently SAGE Labs publicly provides two rat lines with knockouts of autism-associated FMR1 and NLGN3 genes. The remaining five gene knockout rat lines developed in the original collaborationfor the genes MECP2, NRXN1, CACNA1C, PTEN, and MGLUR5are expected to be released soon. The CNTNAP2 and MET knockout rat lines to be generated in the expanded collaboration are expected to be available in 2013.

###

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Autism Speaks and SAGE® Labs develop rat models for translational autism research

ST. LOUIS, August 2, 2012 /PRNewswire/ -- Sigma-Aldrich Corporation (SIAL) today announced that Sigma Advanced Genetic Engineering (SAGE) Labs, an initiative of Sigma Life Science and Autism Speaks, the nation's largest autism science and advocacy organization, expanded a collaboration to develop the first rat models with modified autism associated genes, intended to accelerate discovery and translational autism research.

Expansion of the collaboration follows initial behavioral studies demonstrating that the first two publicly available gene knockout rats, part of the seven rats generated through the collaboration to date, exhibit hallmark characteristics of autism, such as social deficits and repetitive behaviors. Many behavioral characteristics of autism observed in these rats are not seen in other animal models currently used for autism research. SAGE Labs and Autism Speaks now plan to generate additional genetically modified rat models of key autism-associated genes, including CNTNAP2 and MET.

"Autism spectrum disorders are a complex condition with significant unmet medical needs. Although uniquely human, fundamental aspects of the biology underlying autism can be effectively modeled in animals to advance our understanding of cause and enable translation of basic scientific discovery into medical breakthroughs that improve the quality of life for individuals on the spectrum," says Robert Ring, Ph.D., Vice President of Translational Research at Autism Speaks. "These new autism-relevant rat models have already demonstrated great potential for the field. Our new agreement ensures that additional models will continue to be developed and made available to accelerate progress along the entire translational research continuum, from academia to the pharmaceutical industry."

"Modeling human conditions in rats, rather than the mice that have come to predominate preclinical studies, enables more predictive studies of complex neurobehavioral conditions. Rats are unique in that they exhibit richer, more human-like social behaviors than mice, juvenile play being one example. The more complex neural circuitry and greater cognitive capacity in rats also enables researchers to complete many of the demandingand crucially informativecognitive tests that mice cannot perform. In addition, on a practical level, performing initial studies in rats also provides a direct path for drug development," says Edward Weinstein, Ph.D., Director of SAGE Labs.

Initial behavioral studies of the gene knockout rats generated by SAGE Labs are being conducted by Richard E. Paylor, Ph.D., Professor at the Baylor College of Medicine. In some cases, behaviors observed in the rat models have differed from existing mouse models. For example, whereas FMR1 knockout mice exhibit elevated social interactions, rats lacking the same gene participate much less in social play and emit fewer ultrasonic squeaks during play sessions than control rats. These types of social impairments, such as reduced verbal and interactive play, more closely parallel social behavior symptoms seen in humans with FMR1 mutations. Rat models lacking functional NLGN3 and FMR1 genes also display other unexpected characteristics, including compulsive chewing on water bottles and wood blocks. Compulsive and repetitive behaviors are core symptoms in individuals with autism spectrum disorders.

"At SAGE Labs we use CompoZr Zinc Finger Nuclease technology to perform targeted genetic modifications in species previously not amenable to such modifications be it gene knockout, transgene insertion, point mutations, or conditional gene knockout. We can help researchers and pharmaceutical companies access rats, rabbits and other species that best model a medical condition of interest and provide a direct path for preclinical efficacy and toxicology testing," says Weinstein.

Currently SAGE Labs publicly provides two rat lines with knockouts of autism-associated FMR1 and NLGN3 genes. The remaining five gene knockout rat lines developed in the original collaborationfor the genes MECP2, NRXN1, CACNA1C, PTEN, and MGLUR5are expected to be released soon. The CNTNAP2 and MET knockout rat lines to be generated in the expanded collaboration are expected to be available in 2013.

In a separate collaboration with The Michael J. Fox Foundation, SAGE Labs created the first animal models of Parkinson's disease that display deficits in movement similar to those developed by humans. Other genetically modified research models created by SAGE Labs include rats for Alzheimer's, schizophrenia, cancer, and cardiovascular disease research, as well as rats for toxicology testing in drug development. SAGE Labs' model generation services are available for rats, rabbits, mice and other organisms.

For more information, visit http://www.sageresearchmodels.com.

Cautionary Statement: The foregoing release contains forward-looking statements that can be identified by terminology such as "enable," "initial data demonstrates," "predictive," "encourage" or similar expressions, or by expressed or implied discussions regarding potential future revenues from products derived there from. You should not place undue reliance on these statements. Such forward-looking statements reflect the current views of management regarding future events, and involve known and unknown risks, uncertainties and other factors that may cause actual results to be materially different from any future results, performance or achievements expressed or implied by such statements. There can be no guarantee that gene knockout rat models of autism-associated genes or related services will assist the Company to achieve any particular levels of revenue in the future. In particular, management's expectations regarding products associated with gene knockout rat models of autism-associated genes or related services could be affected by, among other things, unexpected regulatory actions or delays or government regulation generally; the Company's ability to obtain or maintain patent or other proprietary intellectual property protection; competition in general; government, industry and general public pricing pressures; the impact that the foregoing factors could have on the values attributed to the Company's assets and liabilities as recorded in its consolidated balance sheet, and other risks and factors referred to in Sigma-Aldrich's current Form 10-K on file with the US Securities and Exchange Commission. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those anticipated, believed, estimated or expected. Sigma-Aldrich is providing the information in this press release as of this date and does not undertake any obligation to update any forward-looking statements contained in this press release as a result of new information, future events or otherwise.

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SAGE® Labs and Autism Speaks Expand Collaboration to Develop Rat Models for Translational Autism Research

ScienceDaily (Aug. 1, 2012) Worldwide cabbage farmers have vast problems with the diamond-back moth. It lays its eggs on the cabbage plants and the voracious appetite of the larvae ruins the yield. However, Morten Emil Mldrup from the University of Copenhagen has developed a method to deceive the greedy insects. Mldrup presents his spectacular research results at a public PhD defense on August 3.

"We have discovered a way to cheat the diamond-back moths to lay their eggs on tobacco plants. As their larvae cannot survive on tobacco leaves they will soon starve to death. In the mean time you can cultivate your cabbage at peace," explains MSc in Biology and Biotechnology Morten Emil Mldrup from DynaMo, Center for Dynamic Molecular Interactions, University of Copenhagen.

It sounds like an imaginative scenario too good to be true. None the less Morten Emil Mldrup and his colleagues from DynaMo at University of Copenhagen have shown that it is indeed possible 'to cheat' the greedy little insects in exactly this way. Morten Emil Mldrup has studied the defence compounds of the cabbage family, the so called glucosinolates, exhaustively. Glucosinolates are toxic to cabbage pests in general, the diamond-back moth being one of very few exemptions.

Away with pesticides

The odour of the cabbage defense compounds attracts the pregnant diamond-back moths. To them the 'defence odour' is a signal of an ideal place to lay their eggs. In this way they ensure their larvae plenty of food without competition from others. After having thoroughly established how a cabbage plants produces defence compounds, Morten Emil Mldrup and his colleagues have successfully transferred the genes responsible for the production of glucosinolates from cabbage into tobacco plants.

"Our experiments show that it is indeed possible to fool the diamond-back moth to lay its eggs on tobacco plants. This is fantastic because the larvae are a major problem all over the world. At present we are aiming at making glucosinolate producing potato plants. The goal is to avoid diamond-back moths' larvae in cabbage by cultivating potato and cabbage plants together. In this way a lot of money is to be saved, and in addition the growers do not need to use the big amounts of pesticides commonly used today. In this way one may say that our discovery is also of benefit to nature," Morten Emil Mldrup tells.

Defense against attacks

Morten Emil Mldrup researches the bioactive molecules that plants are using to protect themselves against pests and how the plants produce these natural defence compounds.

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Gene technology helps deceive greedy pest insects

ScienceDaily (July 31, 2012) Researchers at the University of Iowa Carver College of Medicine have discovered a genetic process that can restore function to a defective protein, which is the most common cause of cystic fibrosis (CF).

Cystic fibrosis is an inherited disease caused by mutations in a gene that adversely affect its protein product. In its correct form and cellular location, this protein, cystic fibrosis transmembrane conductance regulator (CFTR), functions as a channel for ions to move across cell membranes, and is critical for maintaining cellular salt and water balance.

The most common CF-causing genetic mutation, known as delta F508, disrupts the process whereby the CFTR protein is folded into its correct shape and shipped to the membranes of cells that line the airways and other organs. Most of the defective CFTR protein is misprocessed and gets degraded. The lack of normal CFTR ion channels leads to numerous problems, including lung infection and inflammation, the major causes of disease and death in cystic fibrosis.

Despite its importance, how the CFTR protein is made and delivered to cell membranes in its functioning form is not well understood. The UI team led by Paul McCray, M.D., professor of pediatrics and microbiology with UI Health Care and the Roy J. Carver Chair in Pulmonary Research and Vice Chair for Research in Pediatrics, investigated the role of microRNAs -- small non-coding stretches of RNA -- in regulating expression of CFTR.

In their research, McCray and colleagues discovered that one particular microRNA, called miR-138, helps control the biosynthesis of CFTR by regulating a network of genes involved in the production and processing of the protein. The study, published online the week of July 30 in the Proceedings of the National Academy of Sciences (PNAS) Early Edition, shows that that miR-138 acts on the other genes to orchestrate a cellular program that increases production of CFTR and increases the amount of the protein that is transported to the cell membrane where it functions as an ion channel.

"We first wanted to determine how this gene network impacts the CFTR protein produced in people who don't have cystic fibrosis," says lead author Shyam Ramachandran, Ph.D.. "We identified a novel regulatory circuit, but then asked ourselves if any of this affected the mutant protein."

Surprisingly, the researchers found that when the gene network was activated by miR-138, it not only increased the amount of the mutated protein, but also partially restored the protein's function.

By manipulating the microRNA network, the UI team was able to change the fate of the misfolded CFTR from being degraded in the cell to functioning as an ion channel in the cell membrane.

"This was a very surprising finding," Ramachandran says. "It unexpectedly helps rescue the function of the mutant protein."

Because most people with CF have one or two copies of the delta F508 mutation, interventions that overcome the CFTR protein-processing problems caused by this mutation might have important implications for new ways of treating CF.

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Gene network restores cystic fibrosis protein function

Public release date: 31-Jul-2012 [ | E-mail | Share ]

Contact: Molly Rossiter molly-rossiter@uiowa.edu 319-356-7127 University of Iowa Health Care

Researchers at the University of Iowa Carver College of Medicine have discovered a genetic process that can restore function to a defective protein, which is the most common cause of cystic fibrosis (CF).

Cystic fibrosis is an inherited disease caused by mutations in a gene that adversely affect its protein product. In its correct form and cellular location, this protein, cystic fibrosis transmembrane conductance regulator (CFTR), functions as a channel for ions to move across cell membranes, and is critical for maintaining cellular salt and water balance.

The most common CF-causing genetic mutation, known as delta F508, disrupts the process whereby the CFTR protein is folded into its correct shape and shipped to the membranes of cells that line the airways and other organs. Most of the defective CFTR protein is misprocessed and gets degraded. The lack of normal CFTR ion channels leads to numerous problems, including lung infection and inflammation, the major causes of disease and death in cystic fibrosis.

Despite its importance, how the CFTR protein is made and delivered to cell membranes in its functioning form is not well understood. The UI team led by Paul McCray, M.D., professor of pediatrics and microbiology with UI Health Care and the Roy J. Carver Chair in Pulmonary Research and Vice Chair for Research in Pediatrics, investigated the role of microRNAs -- small non-coding stretches of RNA -- in regulating expression of CFTR.

In their research, McCray and colleagues discovered that one particular microRNA, called miR-138, helps control the biosynthesis of CFTR by regulating a network of genes involved in the production and processing of the protein. The study, published online the week of July 30 in the Proceedings of the National Academy of Sciences (PNAS) Early Edition, shows that that miR-138 acts on the other genes to orchestrate a cellular program that increases production of CFTR and increases the amount of the protein that is transported to the cell membrane where it functions as an ion channel.

"We first wanted to determine how this gene network impacts the CFTR protein produced in people who don't have cystic fibrosis," says lead author Shyam Ramachandran, Ph.D.. "We identified a novel regulatory circuit, but then asked ourselves if any of this affected the mutant protein."

Surprisingly, the researchers found that when the gene network was activated by miR-138, it not only increased the amount of the mutated protein, but also partially restored the protein's function.

By manipulating the microRNA network, the UI team was able to change the fate of the misfolded CFTR from being degraded in the cell to functioning as an ion channel in the cell membrane.

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Gene network restores CF protein function

August 1, 2012

Connie K. Ho for redOrbit.com Your Universe Online

23andMe, a company focused on personal genetics, recently took the first step in working towards Food and Drug Administration (FDA) clearance; the FDA plans to review the paperwork over the next few months.

Previously, the Silicon Valley company refrained from government regulation, claiming that the service provided consumers with information rather than a medical service. CBS News reported that 23andMe submitted the first group of seven health-related tests for the FDA to review. By the end of next year, the organization will have submitted another 100 tests to the agency. With these exams, the organization hopes to obtain government approval and scientific credibility.

23andMe has pioneered the direct-to-consumer genetic testing industry and we are committed to helping individuals understand their own genetic information through proven DNA analysis technologies and web-based interactive tools, commented Anne Wojcicki, 23andMe CEO and Co-Founder, in a prepared statement. 23andMe is working proactively with the FDA to ensure the industry delivers high quality information that consumers can trust.

23andMes Personal Genome Service allows individuals to learn more about their personal DNA, offering over 200 health and trait reports along with information on genetic ancestry. The company believes that the service helps scientists better understand how genetics plays into health and diseases. The test makers looked at genetic code, which could possibly help doctors determine if patients have treatable health problems. For individuals, the service will help them make decisions with their healthcare provider.

I think weve now entered an era where these direct-to-consumer offerings are beginning to have real medical relevance, and therefore I am in favor of them being done within some regulatory context, said Dr. James Evans, a professor of genetics and medicine at the University of North Carolina Medical School, told National Public Radio (NPR).

The DNA samples are processed by a CLIA-certified laboratory and 23andMe hopes that the filing with the FDA will make their product fluid and transparent for the public.

23andMe has always valued the guidance of the FDA and, in fact, engaged the agency in conversations prior to launching the Personal Genome Service in 2007. Our ongoing conversations with the FDA in the last year, in particular, resulted in a focused approach that resulted in our ability to compile a comprehensive analysis of 23andMes direct-to-consumer testing for FDA consideration, noted Ashley Gould, 23andMe VP Corporate Development and Chief Legal Officer, in the statement.

According to NPR, if approved, the personalized DNA test by the genetic test maker could possibly increase acceptance of a technology that is questionable to various scientists. The saliva-based kits do not completely help explain the biology of DNA variations related to certain disease. A bulk of geneticists believes that the tests are not reliable.

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23andMe Genetic Testing Company Applies For FDA Approval

Newswise Researchers at Case Western Reserve University School of Medicine have discovered a mutant form of the gene, Chk1, that when expressed in cancer cells, permanently stopped their proliferation and caused cell death without the addition of any chemotherapeutic drugs. This study illustrates an unprecedented finding, that artificially activating Chk1 alone is sufficient to kill cancer cells.

We have identified a new direction for cancer therapy and the new direction is leading us to a reduction in toxicity in cancer therapy, compared with chemotherapy or radiation therapy, said Dr. Zhang, assistant professor, Department of Pharmacology at the School of Medicine, and member of the universitys Case Comprehensive Cancer Center. With this discovery, scientists could stop the proliferation of cancer cells, allowing physicians time to fix cells and genetic errors.

While studying the basic mechanisms for genome integrity, Dr. Zhangs team unexpectedly discovered an active mutant form of human Chk1, which is also a non-natural form of this gene. This mutation changed the protein conformation of Chk1 from the inactive form into an active form. Remarkably, the research team discovered that when expressed in cancer cells, this active mutant form of Chk1 permanently stopped cancer cell proliferation and caused cell death in petri dishes even without the addition of any chemotherapeutic drugs.

The biggest advantage of this potential strategy is that no toxic chemotherapeutic drug is needed to achieve the same cancer killing effect used with a combination of Chk1 inhibitors and chemotherapeutic drugs.

Cells respond to DNA damage by activating networks of signaling pathways, termed cell cycle checkpoints. Central to these genome pathways is the protein kinase, called Chk1. Chk1 facilitates cell survival, including cancer cells, under stressful conditions, such as those induced by chemotherapeutic agents, by placing a temporary stop on the cell cycle progression and coordinating repair programs to fix the DNA errors.

It has long been suggested that combining Chk1 inhibition with chemotherapy or radiotherapy should significantly enhance the anticancer effect of these therapies. This idea has serves as the basis for multiple pharmaceutical companies searching for potential Chk1 inhibitors that can effectively combine with chemotherapy in cancer therapy. To date, no Chk1 inhibitor has passed the clinical trial stage III . This led Dr. Zhangs team to look for alternative strategies for targeting Chk1 in cancer therapy.

Future research by Dr. Zhang and his team will consider two possible approaches to artificially activating Chk1 in cancer cells. One possibility is to use the gene therapy concept to deliver the active mutant form of Chk1 that the team discovered, into cancer cells. The other is to search for small molecules that can induce the same conformational change of Chk1, so that they can be delivered into cancer cells to activate Chk1 molecules. The consequence of either would be permanent cell proliferation inhibition and cancer.

All three authors of this study, Jingna Wang, Xiangzi Han and Youwei Zhang hold the title of Ph.D. and are members of the Department of Pharmacology, Case Western Reserve University School of Medicine, as well as members of the universitys Case Comprehensive Cancer Center. Dr. Wang and Dr. Han are postdoctoral fellows. Dr. Zhang is an assistant professor.

This study is published in Cancer Research. Support for the study comes from the National Cancer Institute at the National Institute of Health,

Grants that supported this study are NCI R00CA126173 and R01CA163214.

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Researchers Discover Gene that Permanently Stops Cancer Cell Proliferation

Public release date: 1-Aug-2012 [ | E-mail | Share ]

Contact: Christine A. Somosi 216-368-6287 Case Western Reserve University

Researchers at Case Western Reserve University School of Medicine have discovered a mutant form of the gene, Chk1, that when expressed in cancer cells, permanently stopped their proliferation and caused cell death without the addition of any chemotherapeutic drugs. This study illustrates an unprecedented finding, that artificially activating Chk1 alone is sufficient to kill cancer cells.

"We have identified a new direction for cancer therapy and the new direction is leading us to a reduction in toxicity in cancer therapy, compared with chemotherapy or radiation therapy," said Dr. Zhang, assistant professor, Department of Pharmacology at the School of Medicine, and member of the university's Case Comprehensive Cancer Center. "With this discovery, scientists could stop the proliferation of cancer cells, allowing physicians time to fix cells and genetic errors."

While studying the basic mechanisms for genome integrity, Dr. Zhang's team unexpectedly discovered an active mutant form of human Chk1, which is also a non-natural form of this gene. This mutation changed the protein conformation of Chk1 from the inactive form into an active form. Remarkably, the research team discovered that when expressed in cancer cells, this active mutant form of Chk1 permanently stopped cancer cell proliferation and caused cell death in petri dishes even without the addition of any chemotherapeutic drugs.

The biggest advantage of this potential strategy is that no toxic chemotherapeutic drug is needed to achieve the same cancer killing effect used with a combination of Chk1 inhibitors and chemotherapeutic drugs.

Cells respond to DNA damage by activating networks of signaling pathways, termed cell cycle checkpoints. Central to these genome pathways is the protein kinase, called Chk1. Chk1 facilitates cell survival, including cancer cells, under stressful conditions, such as those induced by chemotherapeutic agents, by placing a temporary stop on the cell cycle progression and coordinating repair programs to fix the DNA errors.

It has long been suggested that combining Chk1 inhibition with chemotherapy or radiotherapy should significantly enhance the anticancer effect of these therapies. This idea has serves as the basis for multiple pharmaceutical companies searching for potential Chk1 inhibitors that can effectively combine with chemotherapy in cancer therapy. To date, no Chk1 inhibitor has passed the clinical trial stage III . This led Dr. Zhang's team to look for alternative strategies for targeting Chk1 in cancer therapy.

Future research by Dr. Zhang and his team will consider two possible approaches to artificially activating Chk1 in cancer cells. One possibility is to use the gene therapy concept to deliver the active mutant form of Chk1 that the team discovered, into cancer cells. The other is to search for small molecules that can induce the same conformational change of Chk1, so that they can be delivered into cancer cells to activate Chk1 molecules. The consequence of either would be permanent cell proliferation inhibition and cancer.

###

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CWRU School of Medicine researchers discover gene that permanently stops cancer cell proliferation

LONDON--(BUSINESS WIRE)--

Despite the fact that China lags behind in terms of the overall level of genetic engineering drugs, the industry has accumulated rich R&D and industrialization experience as well as capital reserves. Thus, with a host of genetic engineering drug patents to become due, Chinese enterprises, such as Walvax, are committed to the industrialization research of monoclonal antibody, long-acting recombinant protein drugs and other generic drugs with high technical barriers. In April this year, Walvax announced to invest in Shanghai Fengmao to develop and produce genetic engineering generic drugs such as rituximab, bevacizumab, adalimumab, panitumumab, denosumab and long-acting EPO.

New market report China Genetic Engineering Drug Industry Report, 2011-2012 worked out by ResearchInChina delves into a comprehensive discussion of the genetic engineering drug industry from a global perspective and focuses on an insightful review of the sector in China.

Key Topics Covered:

Companies profiled in the report include: Shanghai Lansheng Guojian Pharmaceutical Co., Ltd; Biotech Pharmaceutical Co., Ltd; Anhui Anke Biotechnology (Group) Co., Ltd; GeneScience Pharmaceuticals Co., Ltd; Beijing SL Pharmaceutical Co., Ltd; Jiangsu Sihuan Bioengineering Co., Ltd; Shenzhen Neptunus Interlong Bio-Technique Co., Ltd; 3SBio Inc.; and Tonghua Dongbao Pharmaceutical Co., Ltd.

Report Details:

Title: China Genetic Engineering Drug Industry Report, 2011-2012

Published: July, 2012

Pages: 80

Price: US$ 1,900.00

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Genetic Engineering Drug Sector Globally & in China Examined in New Report Published at MarketPublishers.com

Public release date: 31-Jul-2012 [ | E-mail | Share ]

Contact: Jessica Maki jmaki3@partners.org 617-534-1603 JAMA and Archives Journals

CHICAGO Among patients with multiple colorectal polyps, the prevalence of certain gene mutations varied considerably by polyp count, according to a study in the August 1 issue of JAMA.

"Patients with multiple colorectal adenomas [polyps] may carry germline [those cells of an individual that have genetic material that could be passed to offspring] mutations in the APC or MUTYH genes," according to background information in the article. The authors write that guidelines for when genetic evaluation should be performed in individuals with multiple colorectal adenomas vary, and data to support such guidelines are limited.

Shilpa Grover, M.D., M.P.H., of Brigham and Women's Hospital, Boston, and colleagues conducted a study to evaluate the frequency of APC and MUTYH mutations by the number of colorectal adenomas among individuals who had undergone clinical genetic testing. The researchers also studied the relationship between the number of adenomas and age at diagnosis of adenoma and colorectal cancer and the prevalence of pathogenic APC or MUTYH mutations. The study included 8,676 individuals who had undergone full gene sequencing between 2004 and 2011. Individuals with a certain mutation of the MUTYH gene (Y179C and G396D) underwent full MUTYH gene sequencing. APC and MUTYH mutation prevalence was evaluated by the number of polyps.

Colorectal adenomas were reported in 7,225 individuals; 1,457 with classic polyposis (100 adenomas or more) and 3,253 with attenuated (diminished) polyposis (20-99 adenomas). "The prevalence of pathogenic APC and biallelic [pertaining to both alleles (both alternative forms of a gene)] MUTYH mutations was 95 of 119 (80 percent) and 2 of 119 (2 percent), respectively, among individuals with 1,000 or more adenomas, 756 of 1,338 (56 percent) and 94 of 1,338 (7 percent) among those with 100 to 999 adenomas, 326 of 3,253 (10 percent) and 233 of 3,253 (7 percent) among those with 20 to 99 adenomas, and 50 of 970 (5 percent) and 37 of 970 (4 percent) among those with 10 to 19 adenomas. Adenoma count was strongly associated with a pathogenic mutation in multivariable analyses," the authors write.

The researchers note that their evaluation of individuals who underwent genetic testing because of a personal or family history suggestive of a familial polyposis syndrome suggests that genetic evaluation for APC and MUTYH mutations may be considered in individuals with 10 or more adenomas. "However, our results are derived from a selected cohort of high-risk individuals and need to be validated in larger populations of unselected patients."

"The mutation probabilities reported here may assist clinicians in their decision to recommend genetic evaluation and counsel patients undergoing genetic testing. However, it remains important to also consider the limitations of genetic testing at present, because one-third of patients with a classic familial adenomatous polyposis [FAP; a polyposis syndrome resulting from mutations in the APC gene characterized by multiple colorectal polyps] phenotype are found to not carry a mutation in either the APC or MUTYH gene. Such individuals should undergo periodic re-evaluation as other susceptibility genes are identified."

(JAMA. 2012;308[5]:485-492. Available pre-embargo to the media at http://media.jamanetwork.com)

Editor's Note: This study was supported by National Cancer Institute grants and by a National Institutes of Health grant. Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, etc.

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Study finds correlation between number of colorectal polyps and genetic mutations

ACMG Foundation for Genetic and Genomic Medicine Announces Two 2013-2014 ACMG Foundation/Genzyme Biochemical Genetics Fellowships Now Available -- Deadline August 15, 2012

Newswise BETHESDA, Md., July 31, 2012 /PRNewswire-USNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine announced that applications for the prestigious ACMG Foundation/Genzyme Clinical Genetics Fellowship in Biochemical Genetics award Program are now being accepted. For 2012-2013, two awardees will be given the opportunity to participate in an in-depth clinical experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics. The Fellowship comes with a $75,000 award.

"Advances in newborn screening and in therapeutics offer unprecedented opportunities for early diagnosis and treatment of inborn errors of metabolism, including lysosomal storage disorders," says Bruce Korf MD, PhD, FACMG, President of the ACMG Foundation. "Though we are at the forefront in the integration of genetics and genomics into medical practice, with this growth there is a deficit of physicians specifically trained in the diagnosis, management and treatment of individuals with metabolic diseases. Genzyme and the ACMG Foundation have created a robust national fellowship program to promote and encourage the recruitment and training of clinicians for this purpose."

The goals of the ACMG Foundation/Genzyme Clinical Genetics Fellowship in Biochemical Genetics award Program are to:

1. Advance education, research and standards of practice in medical genetics. 2. Develop and expand clinical and laboratory expertise in medical genetics in the United States. 3. Initiate and develop a broad-based infrastructure for industry funding of high quality projects in the field of medical genetics.

Applications for this program will be considered in one round, based on the following schedule:

* Application Submission Deadline: August 15, 2012 * Awardee Notification by: September 2012 * Award Presentation: at the 2013 ACMG Annual Clinical Genetics Meeting in Phoenix, AZ

For more information and to download the application please visit http://www.acmgfoundation.org or email cpowell@acmgfoundation.org.

"Since 2005, the ACMG Foundation for Genetic and Genomic Medicine has coordinated this outstanding opportunity for geneticists, and we have had many out-standing applicants and fellows. We appreciate Genzyme's financial support of the fellowships, and I feel that they are an excellent example of a successful partnership between industry and a nonprofit organization to help train the next generation of geneticists," said David Cotter, ACMG Foundation Director of Development.

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2013-2014 ACMG Foundation/Genzyme Biochemical Genetics Fellowships