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Amy McGuire, JD, PhD, "Genomic Medicine: Ethical, Legal

By Richard Hartley-parkinson

PUBLISHED: 12:11 EST, 16 May 2012 | UPDATED: 06:42 EST, 17 May 2012

A genetic ‘map’ that could help give more accurate diagnoses of breast cancer has been drawn up, showing the varied landscape of the disease in more detail than ever before.

Researchers at the Wellcome Trust Sanger Institute in Hinxton, Cambridgeshire, say the development will lead to more effective treatments.

They found that rather than being a single disease, breast cancer is a diverse range of cancer species.

Scientists described nine new genes that drive the development of breast cancer, bringing the known total to 40.

The Wellcome Trust Sanger Institute has drawn up a genetic ‘map’ of breast cancer showing the landscape of the disease in more detail than ever before

The research, conducted by a large international team of British-led experts, involved analysing DNA from 100 tumour samples.

Scientists scoured more than 21,000 genes for cancer-causing ‘driver’ mutations that can turn an ordinary cell into one that multiplies uncontrollably.

They also identified nine genes previously not known to be linked to the disease.

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New genetic 'map' drawn up that will give better diagnosis for breast cancer patients and more effective treatment

A new study of the protein-coding genes in 100 breast cancer tumors revealed vast differences among the cancers and highlights how complicated the disease really is, researchers said Wednesday.

A sobering perspective on the complexity and diversity of the disease is emerging, they wrote in the online edition of the journal Nature (subscription required), which is publishing a series of studies of the genetic changes in breast cancer.

The scientists, led by Michael Stratton at the Wellcome Trust Sanger Institute in Hinxton, England, found 73 different combinations of disease-causing mutations in the tumors, each involving up to six different genes from a set of 40 driver genes.

Seven of the 40 individual driver genes were mutated in more than 10% of cases, but 33 others that were less common also contributed to the development of the cancers, the team reported. In 28 cases, a single mutation was enough to cause disease.

The researchers identified nine new genes that caused the cancers, and also found mutations in genes that were already known to cause breast and other cancers.

Discovering that a single disease breast cancer can appear in so many different guises means that developing targeted therapies tailored to a patients tumor type will remain a tall order in the near future.

The situation is more complex than anyone would like to see, said Christina Curtis, an assistant professor of preventive medicine at the Keck School of Medicine at USC and first author of another paper in Nature, released in April, that detailed several new breast cancer subcategories.

But it seems were getting closer, Curtis added. With each study were getting a new vantage point.

Curtis said that finding new driver genes and new combinations of driver genes could still eventually pave the way to new treatment options, once researchers dig further and figure out exactly how the different combinations of mutations change cellular function, causing cancer.

Her team at USC is working on techniques to examine mutations in single cells, which will let scientists study genetic variation within tumors as well as between then.

More here:

Breast cancer study reveals 'substantial genetic diversity'

Every few days my Google Alerts have been dropping in my inbox reviews of Harry Osters Legacy: A Genetic History of the Jewish People. The latest is in the The Tablet, A Case for Genetic Jewishness:

For a Jewish genetics researcher, being told inprintthat Hitler would certainly have been very pleased by your work cant be pleasant. But thats what happened in 2010 toHarry Ostrer, a geneticist at the Albert Einstein College of Medicine, when he and his colleagues published astudyshowing that Jews in three different geographical areas had certain collections of genes that made them more biologically similar to one another than they were to non-Jews in the same regions. The work also showed that Jews around the world could trace their ancestry to a group of people who lived in the Middle East 2,000 years ago; that meant, however, that certain genetic signatures could be used to identify Jews, indicating that Jews share a common biological identity beyond their religious affiliationwhich is what inspired the Hitler crack.

I dont plan on reading Legacy because I already read the paper which it is based on, Abrahams Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry. It is now open access, so you can read it too. As implied in the article in The Tablet the biggest finding in this paper is that most of the worlds Jewry seem to share tracts of the genome which are identical by descent (IBD). You dont have to be a geneticist to intuit that being IBD implies relatively recent and elevated shared descent from a common set of ancestors. In particular the authors were looking for segments of the genome where individuals shared the same sequence of genetic markers. Very long sequences indicate a relatively recent common ancestor, while many short ones suggest more distant but numerous common ancestors.

From looking at these patterns of relatedness the authors infer that despite the genetic variation in the modern Jewry, most of the worlds Jews, from Iran to Morocco to Lithuania, share common ancestry from a source population which flourished ~2,500 years ago. All that being said, genetics is only part of the puzzle here. In the discussion the authors suggest that Yet, the sharing of Iranian and Iraqi Jews of a branch on the phylogenetic tree with the Adygei suggests that a certain degree of admixture may have occurred with local populations not included in this study. I argue in my post The Assyrians and Jews: 3,000 years of common history, a clear and distinct category of Jew as opposed to generic North Levantine in the year 500 BC probably does not make biological sense, though it might make culturally sense (and generic North Levantine is obviously not accurate, as most of these individuals had strong tribal or ethnic identities at the time). Finally, I dont think I highlighted in my earlier commentary that these data imply that the rise of Christianity and Islam fundamentally stabilized the genetics of the Jewish people, insofar as much of the admixture upon the core base in the peripheral populations seems to predate the rise of these religious civilizaitons. Once Christianity and Islam marginalized the Jews, the gene flow from non-Jews to Jews diminished greatly. This is curiously analogous to the cultural involution which Jews also underwent during this period.

Link:

Abraham’s genetic threads | Gene Expression

Researchers at Washington University School of Medicine in St. Louis have developed a genetic test that can accurately predict whether the most common form of eye cancer will spread to other parts of the body, particularly the liver.

In 459 patients with ocular melanoma at 12 centers in the United States and Canada, the researchers found the test could successfully classify tumors more than 97 percent of the time.

The study will appear in an upcoming issue of the journal Ophthalmology, but is now online.

“When the cancer spreads beyond the eye, it’s unlikely any therapy is going to be effective,” says principal investigator J. William Harbour, MD. “But it’s very possible that we can develop treatments to slow the growth of metastatic tumors. The real importance of this test is that by identifying the type of tumor a patient has, we can first remove the tumor from the eye with surgery or radiation and then get those individuals at high risk into clinical trials that might be able to help them live longer.”

Harbour believes the test should allow ocular oncologists to quickly evaluate the risks associated with particular tumors and to begin treatment the moment they can detect any spread of the cancer.

Melanoma of the eye is relatively rare, diagnosed in about 2,000 people in the United States each year. Advances in treatment have allowed surgeons to preserve patients’ vision, but when cancer spreads beyond the eye, it often is deadly.

About a decade ago, Harbour, the Paul A. Cibis Distinguished Professor of Ophthalmology and Visual Sciences, began using gene expression profiling to monitor the activity of thousands of genes in and around ocular melanoma tumors.

“At the time, we were surprised to see that based on these gene expression profiles, the tumors clustered into two groups that corresponded, almost perfectly, to patients whose cancer spread and those whose cancer was confined within the eye,” says Harbour, who directs Washington University’s Center for Ocular Oncology. “Tumors with a class 1 gene expression profile, or ‘signature,’ very rarely spread, but those with a class 2 profile frequently develop into metastatic cancer.”

Initially, Harbour’s group identified differences in approximately 1,000 genes between class 1 and class 2 tumors, but they whittled down that number, hoping to develop a simple test that could be used easily by ophthalmologists. Eventually, they settled on about a dozen genes that could be evaluated in tumor samples collected with a needle biopsy.

“We went through a number of sophisticated algorithms and validations, and we came up with a group of 12 genes,” he says. “We also included three more genes that don’t change whether they are in tumor tissue or healthy tissue. Those genes act as our ‘controls’ in this prognostic test.”

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Genetic test can accurately predict spread of eye cancer

Published on May 14, 2012 at 12:51 AM

Cancer therapies targeting specific molecular subtypes of the disease allow physicians to tailor treatment to a patient’s individual molecular profile. But scientists are finding that in many types of cancer the molecular subtypes are more varied than previously thought and contain further genetic alterations that can affect a patient’s response to therapy.

A UNC-led team of scientists has shown for the first time that lung cancer molecular subtypes correlate with distinct genetic alterations and with patient response to therapy. These findings in pre-clinical models and patient tumor samples build on their previous report of three molecular subtypes of non-small cell lung cancer and refines their molecular analysis of tumors.

Their findings were published in the May 10, 2012 online edition of the Public Library of Science One.

Study senior author, Neil Hayes, MD, MPH, associate professor of medicine, says, “It has been known for about a decade of using gene expression arrays that “molecular subtypes” exist. These subtypes have molecular “fingerprints” and frequently have different clinical outcomes. However, the underlying etiologies of the subtypes have not been recognized. Why do tumors form subtypes?

“Our study shows that tumor subtypes have different underlying alterations of DNA as part of the difference. These differences are further evidence of the importance of subtypes and the way we will use them. For example, the mutations are different which may imply much more ability to target than previously recognized. Also, we are starting to get a suggestion that these subtypes may reflect different cells of origin that rely on different cancer pathways. This is further unlocking the diversity of this complex disease.” Hayes is a member of UNC Lineberger Comprehensive Cancer Center.

The team first defined and reported in 2006 on three lung cancer molecular subtypes, named according to their genetic pattern – bronchoid, squamoid and magnoid.

In this PLoS One paper they sought to determine if distinct genetic mutations co-occur with each specific molecular subtypes. They found that specific genetic mutations were associated with each subtype and that these mutations may have independent predictive value for therapeutic response.

Source: University of North Carolina School of Medicine

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Lung cancer molecular subtypes correlate with genetic alterations, patient's response to therapy

Researchers may be closing in on diseases inherited component

Web edition : 1:40 pm

Schizophrenias elusive genetic roots may finally be within grasp. A new, wide-ranging effort has uncovered a set of DNA signatures that are shared by people with the disease consistently enough that the set can be used to reliably predict whether someone has the disease. If replicated, the results may point out ways to diagnose schizophrenia and suggest new targets for treatment.

By analyzing a battery of 542 genetic variants, researchers could predict who had schizophrenia in a group of European Americans and African Americans. The confirmation of the result in people of varying ancestry suggests that the set of genes truly does detect the core features of the disorder, scientists report online May 15 in Molecular Psychiatry.

Genetic studies in psychiatry tend to produce initial excitement but are then not reproduced in independent populations, which is the most important proof that a finding is solid and real, says study coauthor Alexander Niculescu of the Indiana University School of Medicine in Indianapolis.

Niculescu and his colleagues created their gene panel by assessing a slew of earlier studies on schizophrenia: Data from humans and animals on gene variation and gene behavior all fed into the teams analysis. If a gene popped out of several different datasets, the reasoning went, it is probably important to schizophrenia. Niculescu compares this method called convergent functional genomics to an Internet search: The more links to a web page, the higher it comes up on your search list.

After sifting through all of this data, the team identified some top candidates, some already known to be related to schizophrenia (DISC1, a known culprit, sits at the top of the list) and a handful that have never before been linked to the disease.

Link:

Schizophrenia’s core genetic features proposed

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In Sperm Banks, a Matrix of Untested Genetic Diseases

Public release date: 14-May-2012 [ | E-mail | Share ]

Contact: Jim Dryden jdryden@wustl.edu 314-286-0110 Washington University School of Medicine

Researchers at Washington University School of Medicine in St. Louis have developed a genetic test that can accurately predict whether the most common form of eye cancer will spread to other parts of the body, particularly the liver.

In 459 patients with ocular melanoma at 12 centers in the United States and Canada, the researchers found the test could successfully classify tumors more than 97 percent of the time.

The study will appear in an upcoming issue of the journal Ophthalmology, but is now online.

“When the cancer spreads beyond the eye, it’s unlikely any therapy is going to be effective,” says principal investigator J. William Harbour, MD. “But it’s very possible that we can develop treatments to slow the growth of metastatic tumors. The real importance of this test is that by identifying the type of tumor a patient has, we can first remove the tumor from the eye with surgery or radiation and then get those individuals at high risk into clinical trials that might be able to help them live longer.”

Harbour believes the test should allow ocular oncologists to quickly evaluate the risks associated with particular tumors and to begin treatment the moment they can detect any spread of the cancer.

Melanoma of the eye is relatively rare, diagnosed in about 2,000 people in the United States each year. Advances in treatment have allowed surgeons to preserve patients’ vision, but when cancer spreads beyond the eye, it often is deadly.

About a decade ago, Harbour, the Paul A. Cibis Distinguished Professor of Ophthalmology and Visual Sciences, began using gene expression profiling to monitor the activity of thousands of genes in and around ocular melanoma tumors.

“At the time, we were surprised to see that based on these gene expression profiles, the tumors clustered into two groups that corresponded, almost perfectly, to patients whose cancer spread and those whose cancer was confined within the eye,” says Harbour, who directs Washington University’s Center for Ocular Oncology. “Tumors with a class 1 gene expression profile, or ‘signature,’ very rarely spread, but those with a class 2 profile frequently develop into metastatic cancer.”

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Genetic test identifies eye cancer tumors likely to spread

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In Sperm Banks, a Roll of the Genetic Dice

In households across the country, children conceived with donated sperm are struggling with serious genetic conditions inherited from men they have never met: heart defects, spinal muscular atrophy, neurofibromatosis type 1 and fragile-X syndrome the most common form of mental retardation in boys and others.

Donated eggs pose a risk as well, but the threat of genetic harm from sperm donation is arguably much greater. Sperm donors are no more likely to carry genetic diseases than anybody else, but they can father a far greater number of children: 50, 100 or even 150, each a potential inheritor of flawed genes.

Sharine and Brian Kretchmar of Yukon, Okla., tried a number of medical treatments to conceive a second child.

After a depressing series of failures, they were advised by a doctor to find a sperm donor. For more than a year, the Kretchmars researched sperm banks and donors. The donor they chose was a family man, a Christian like them, they were told. Most important, he had a clean bill of health. So the Kretchmars jumped in. After artificial insemination, Sharine Kretchmar became pregnant, and in April 2010, she gave birth to a boy they named Jaxon.

But the baby failed to have a bowel movement in the first day or so after birth, a sign to doctors that something was wrong. Doctors returned with terrible news: Jaxon appeared to have cystic fibrosis.

“We were pretty much devastated,” Sharine Kretchmar said.

Genetic testing showed that Jaxon did carry the genes for cystic fibrosis. Sharine Kretchmar, 33, had no idea she was a carrier and was shocked to discover that so, too, was the Kretchmars’ donor.

His sperm, they would discover, was decades old, originally donated at a laboratory halfway across the country and frozen ever since. Whether it was properly tested is a matter of dispute.

Experience not unique

Sadly, the Kretchmars’ experience is not unique.

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Given number of inheritors, donor sperm carries risk of genetic harm

May 11, 2012

Connie K. Ho for RedOrbit.com

Researchers at Loyola University Chicagos Stritch School of Medicine have found that patients see both benefits and risks from direct-to-consumer genetic tests. Dr. Katherine Wasson, a specialist on the ethics of direct-to-consumer genetic tests, and colleagues conducted the experiment. The study, published in the American Journal of Bioethics Primary Research, showed that the patients were concerned about the end game of the genetic test results.

There are a few companies, such as 23andMe, deCODE Genetics and Navigenics, that currently test consumers for single gene disorders like cystic fibrosis; complex disorders with multiple genes like cancer, heart disease, and diabetes; traits like hair color, eye color, and baldness; as well as allergies to drugs like Coumadin for a fee ranging from $100 to $1,500. Normally, consumers can order these tests directly and receive the exams without having to go through a health-care professional like a geneticist or a genetic counselor.

In the study, the researchers conducted four focus groups with 29 participants who were primary care patients at Loyola University Medical Center. After they received information about the direct-to-consumer genetic testing, they were to give their opinions on the exams. The focus groups lasted about an hour and a half to two hours, with much of the answers being recorded and transcribed. Following the focus groups, researchers read and analyzed transcripts of the sessions and looked for themes that came out from the data.

Even though direct-to-consumer genetic tests werent covered under insurance, many of the participants were willing to pay the $10 to $20 price and a few of them were willing to pay up to $100 to $400.

This situation could exacerbate inequalities in the health-care system, with those having greater financial resources being able to access this elective health-related information while those with fewer resources are unable to pay for it, noted the researchers in the report.

Participants in the focus groups also stated that they were interested in having their children tested, including those who were adopted or were from foster homes. They believed that the tests would provide useful information for the future. However, this perspective is not shared by medical professionals who recommend that children should only be tested if theres a disease to be investigated; otherwise, children should wait until they are adults to be tested.

Children could be tested without understanding its implications, and parents might take actions that are inappropriate and potentially harmful, based on results without consulting a qualified health professional, explained the researchers in the article.

The researchers also found that there were four main reasons participants were involved in the study. In particular, they hoped to gain more information, seek prevention, seek intervention, and to help others. They also mentioned concerns about testing, including questions regarding the accuracy of the tests, the interpretation of the exams, the ethical issues raised with the tests, as well as the ability to share the testing information with consumers physicians.

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Focus Groups Share Thoughts on Direct-To-Consumer Genetic Tests

Scientists have uncovered genetic signs that could help doctors predict how breast cancer patients will respond to chemotherapy.

Researchers led by McMaster University biochemist John A. Hassell found two sets of genes that could indicate the presence of higher levels of two proteins targeted by commonly used chemotherapy drugs.

They reported their results in a paper published Thursday in the journal BMC Medical Genomics.

Hassell and his colleagues focused on the enzyme TOP2A or the protein beta-tubulin, which are targeted by anthracycline and taxane chemotherapy drugs, respectively. Without those targets, the chemotherapy won’t work.

The researchers built their ‘gene expression signatures’ by looking at the expression levels – how often the genes are transcribed – of genes that correlated with the expression levels for the genes encoding TOP2A and beta-tubulin.

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If the signature indicates a patient’s tumor is making a lot of TOP2A and beta-tubulin, there’s a good chance that chemotherapy will be more effective. And on the flip side, if a patient’s genetic signature indicates that chemotherapy wouldn’t be as successful, doctors can avoid giving the patient a treatment that would do more harm than good.

Using data for a group of 488 breast cancer patients, Hassell and his team found they could use these genetic signatures to accurately predict if anthrocycline or taxane drugs had successfully obliterate a patient’s cancer.

“This is all in the realm of personalized medicine,” Hassell said in a telephone interview.

Hopefully, finding these kinds of genetic indicators will mean that eventually a breast cancer patient can be treated with a chemotherapeutic agent tailored to her particular type of breast cancer, according to Hassell.

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Genetic ‘Signature’ Predicts Breast Cancer Chemotherapy Response: Study

Public release date: 11-May-2012 [ | E-mail | Share ]

Contact: Dianne G. Shaw dgs@med.unc.edu 919-966-7834 University of North Carolina School of Medicine

Cancer therapies targeting specific molecular subtypes of the disease allow physicians to tailor treatment to a patient’s individual molecular profile. But scientists are finding that in many types of cancer the molecular subtypes are more varied than previously thought and contain further genetic alterations that can affect a patient’s response to therapy.

A UNC-led team of scientists has shown for the first time that lung cancer molecular subtypes correlate with distinct genetic alterations and with patient response to therapy. These findings in pre-clinical models and patient tumor samples build on their previous report of three molecular subtypes of non-small cell lung cancer and refines their molecular analysis of tumors.

Their findings were published in the May 10, 2012 online edition of the Public Library of Science One.

Study senior author, Neil Hayes, MD, MPH, associate professor of medicine, says, “It has been known for about a decade of using gene expression arrays that “molecular subtypes” exist. These subtypes have molecular “fingerprints” and frequently have different clinical outcomes. However, the underlying etiologies of the subtypes have not been recognized. Why do tumors form subtypes?

“Our study shows that tumor subtypes have different underlying alterations of DNA as part of the difference. These differences are further evidence of the importance of subtypes and the way we will use them. For example, the mutations are different which may imply much more ability to target than previously recognized. Also, we are starting to get a suggestion that these subtypes may reflect different cells of origin that rely on different cancer pathways. This is further unlocking the diversity of this complex disease.” Hayes is a member of UNC Lineberger Comprehensive Cancer Center.

The team first defined and reported in 2006 on three lung cancer molecular subtypes, named according to their genetic pattern bronchoid, squamoid and magnoid.

In this PLoS One paper they sought to determine if distinct genetic mutations co-occur with each specific molecular subtypes. They found that specific genetic mutations were associated with each subtype and that these mutations may have independent predictive value for therapeutic response.

###

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Molecular subtypes and genetic alterations may determine response to lung cancer therapy

Public release date: 9-May-2012 [ | E-mail | Share ]

Contact: Joseph Caspermeyer Joseph.Caspermeyer@asu.edu Arizona State University

Infectious diseasesboth old and newcontinue to exact a devastating toll, causing some 13 million fatalities per year around the world.

Vaccines remain the best line of defense against deadly pathogens and now Kathryn Sykes and Stephen Johnston, researchers at Arizona State University’s Biodesign Institute, along with co-author Michael McGuire from the University of Texas Southwestern Medical Center are using clever functional screening methods to attempt to speed new vaccines into production that are both safer and more potent.

In a recent study appearing in the journal Proteome Science, the group used high-throughput methods to identify a modulator of immune activity that exists naturally in an unusual pathogen belonging to the Poxviridae family of viruses.

Parapoxvirus infection causes immune cell accumulation at the site of infection; direct screening in the host for this biological activity enabled the isolation of an immunomodulatorlabeled B2. Indeed, B2 by itself causes immune cell accumulation at the site of skin injection. When added to a traditional influenza vaccine, B2 improves the vaccine’s protective capacity. Furthermore, the immunomodulator also demonstrated the ability to shrink the size of cancerous tumors, even in the absence of any accompanying specific antigen.

In the past, the process of vaccine discovery involved the random selection of naturally attenuated strains of viruses and bacteria, which were found to provide protection in humans. Examples of this approach include the use of vaccinia to protect against smallpox and attenuated mycobacterium bovis (BCG) to protect against tuberculosis.

In recent years, many vaccines have been developed using only selected portions of a given pathogen to confer immunity. These so-called subunit vaccines have several advantages over whole pathogen vaccines. Genetic components that allow a given pathogen to elude immune detection for example may be screened out, as well as any factors causing unwanted vaccine side effects. Through careful screening, just those elements responsible for eliciting protective immune responses in the host can be extracted from the pathogen and reassembled into an effective, safer subunit vaccine.

In practice, the process of narrowing the field of promising subunit candidates from the whole genome of a pathogen has often been time consuming, laborious and perplexing. In the current study, their earlier-developed strategy, known as expression library immunization, is extended to develop a scheme to find the protein-encoding segmentsknown as open reading frames (ORFs)from a pathogenic genome that have any biological function of interest.

This simple, yet powerful technique uses the host’s immune system itself to rapidly reduce any pathogenic genome (viral, fungal, bacterial or parasitic) to a handful of antigens capable of conferring protection in the host.

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Advanced genetic screening method may speed vaccine development

Michael Pacanowski, PharmD, MPH; Shashi Amur, PhD; Issam Zineh, PharmD, MPH Author Affiliations: Genomics Group, Office of Clinical Pharmacology, Office of Translational Sciences, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, Maryland.

Treatment of chronic hepatitis C (CHC) is a prototype for personalized medicine. Combination therapy with peginterferon alfa plus ribavirin was the standard of care for more than a decade. Greater understanding of the disease and determinants of treatment response have improved sustained virologic response (SVR) rates from less than 10% with interferon alfa in the 1990s to more than 80% with contemporary triple therapy regimens that include direct acting antivirals (DAAs) (Figure). Patient-specific factors such as viral genotype and early on-treatment responses are considered in therapeutic individualization. New approaches to search the human genome for predictors of drug response led to the discovery that single-nucleotide polymorphisms (SNPs) near the host IL28B gene are among the strongest predictors of response to peginterferon alfa and ribavirin. This Viewpoint discusses the evolution of CHC pharmacogenetics, its real-time incorporation into recent regulatory science evaluations, and its application in future drug development.

cDNA indicates complementary

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New Genetic Discoveries and Treatment for Hepatitis C [Viewpoint]

With the support of a Major League Baseball star, a new University of Florida research center on an island settled by the Vikings could lead to breakthroughs about a rare genetic disorder and potentially change the course of care for high blood pressure and other common conditions.

UF College of Medicine researchers studying a genetic condition called glycogen storage disease type III, which prevents children and adults from properly processing sugar stored in the body, have received support from the Johnny Damon Foundation to establish a new research center on the Faroe Islands, located in the North Atlantic Ocean between Norway and Iceland. Because of the isolation of the island chain, genetic diseases are common there, making it a fertile ground for researchers.

“Johnny Damon has no connection to this disease, so his willingness to help means a lot to me,” said David Weinstein, M.D., a professor of pediatrics in the UF College of Medicine and director of the UF Glycogen Storage Disease Program. “We hear often about problems in sports, but we don’t frequently hear about athletes who go out of their way to help people. We could not do this without his support.”

Type III glycogen storage disease is one of the rarest forms of the disease and is linked to all the places where the Vikings settled more than 1,000 years ago. The disease occurs because of a genetic glitch that prevents children’s bodies from properly processing glycogen, stored sugar the body uses as fuel throughout the day. In children with this disease, stored sugar accumulates in the liver and muscles, including the heart, often causing it to grow so large it cannot function.

One in 3,000 people on the Faroe Islands has glycogen storage disease, or GSD, compared with about one in 100,000 in the United States. In addition, one in 22 people on the islands is a carrier for the disease, a statistic Weinstein suspects may be linked to other conditions prevalent there, such as high blood pressure and high levels of fats called triglycerides. Because Faroese people consume mostly fish, meat and root vegetables – there is only one fast food restaurant in the country – the high prevalence of high cholesterol and high triglycerides among the population is a mystery, Weinstein said.

Working in collaboration with the Faroese government and scientists there, UF researchers will study not only glycogen storage disease but also how it may link to some of these other common problems.

“The textbooks all say when you are a carrier for genetic diseases, that you are normal and have no effects,” Weinstein said. “We think the textbooks are wrong. We have evidence already from dogs that are carriers for GSD here that carriers of disease have mild manifestations. The way it may present is as high cholesterol and high triglycerides or it may be a cause of kidney stones. Common problems we deal with all the time may be due to being a carrier for this disease. This study will help not only islanders but could show that we should be treating common disorders in a different way.”

For example, if a link is found between glycogen storage disease and high cholesterol, the research may show that precise doses of cornstarch -the common treatment for some types of GSD – could be a safer and more effective treatment to combat cholesterol in carriers than the medications currently used, Weinstein said.

Continued here:

New University of Florida research center to focus on rare genetic illness

Dell:

WHAT The team of parents, genetic and translational medicine scientists and pediatric oncologists trailblazing personalized medicine in the treatment of deadly pediatric cancers is convening in Austin to discuss the status of the worlds first personalized medicine clinical trial for pediatric cancer and plan next steps at the NMTRC Symposium 2012. Neuroblastoma affects 1 in 100,000 children and is responsible for 1 in 7 pediatric cancer deaths.

WHO Parents, advocates, oncologists from the Neuroblastoma and Medulloblastoma Translational Research Consortium (NMTRC) and biomedical researchers from the Translational Genomics Research Institute (TGen), who are using high performance computing and cloud technology from Dell to identify targeted treatments based on the specific genetic vulnerabilities of each childs tumoran approach that could be used to treat all pediatric and adult cancers in the future.

WHY Personalized medicinetreatment based on the specific vulnerabilities of each tumor is overcoming longstanding barriers to treatment of pediatric cancer. There has been only one new treatment for pediatric cancer approved by the FDA since the 1980s, compared to 50 treatments approved for adult cancer in this same timeframe. As a result, pediatric oncologists use treatments designed for adults to treat children, with toxic side effects that are frequently as physically detrimental to the child as the cancer itself.

WHEN The following events will be available via live-stream: May 16 1-2 pm CT: Keynote: Molecular-Profiling for Optimized Precision Therapy, Dr. Timothy Triche, University of Southern California/ Childrens Hospital Los Angeles

2-4 pm CT: Panel Discussion: Kids Cloud: Access to Data Boundaries Dr. Melinda Merchant – National Cancer Institute Dr. Gary Marchant – Arizona State University Nancy Goodman – Kids V. Cancer Foundation Patrick Lacey – Friends of Will Foundation Andy Mikulak – Maxs Ring of Fire Foundation Dr. Giselle Sholler – Van Andel Institute Dr. Spyro Mousses – Translational Genomics Research Institute Dr. James Coffin – Dell

WHERE Participate and join the conversation via the #HealthCloud hashtag on Twitter. Tune in via Live-Stream here: http://www.fittotweet.com/live/nmtrc/.

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Innovators in Pediatric Cancer to Share Progress on Ground-Breaking Personalized Medicine Clinical Trial

Researchers at Warwick Medical School have discovered a way of identifying which women are most at risk of postnatal depression (PND) by checking for specific genetic variants. The findings could lead to the development of a simple, accurate blood test which checks for the likelihood of developing the condition.

Presenting the research to the International Congress of Endocrinology/European Congress of Endocrinology (7 May 2012), Professor Dimitris Grammatopoulos, Professor of Molecular Medicine at the University of Warwick, said that approximately one in seven women who give birth suffer from PND, which normally starts around two weeks after childbirth.

He explained: “Current screening policies rely on the opportunistic finding of PND cases using screening tools such as the Edinburgh Postnatal Depression Score (EPDS), but such tests cannot identify women at risk, ahead of them developing the condition.”

The researchers assessed a group of 200 pregnant women for PND using the EPDS, once during their first visit to the ante-natal clinic, and again two to eight weeks after they had given birth. They found that the women who developed PND were more likely to have specific genetic variants of the bcl1 and rs242939 single nucleotide polymorphisms (SNPs)[2] of the glucocorticoid receptor and the corticotrophin-releasing hormone receptor-1 genes, respectively.

These receptors control the activity of the hypothalamo-pituitary adrenal (HPA) axis – an endocrine system that is activated in response to stress. The hypothalamus is part of the brain that monitors many aspects of the state of the body’s systems and is closely linked with the pituitary gland, which releases a number of hormones into the blood stream that control vital body functions.

The finding appears to show that postnatal depression is a specific subgroup of depression with a distinct genetic element which means that some women are genetically more reactive to the environmental factors which trigger depression.

“Although we knew already that there was an association of the HPA axis with depression, ours is the first study to show a link between specific elements of this pathway and the particular case of PND,” said Professor Grammatopoulos.

“We now intend to conduct further research on other genetic variants of the HPA axis in a larger, multi-centre study involving women from Coventry, Birmingham, and London.

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Checking for specific genetic variants can help identify women at high risk of PND

SAN DIEGO, May 9, 2012 /PRNewswire/ — Sequenom, Inc. (SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that it has signed an agreement with U.S. health insurance provider Coventry Health Care National Network to provide coverage for the Sequenom Center for Molecular Medicine’s (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT). The test detects certain fetal trisomies in women at increased risk of carrying a child with one of these chromosomal anomalies.

The agreement ensures that the 2.2 million members of the Coventry First Health PPO network will have coverage for Sequenom CMM’s MaterniT21 PLUS testing service, with access to more than 5,000 hospitals and 500,000 health professionals in all 50 states, including the District of Columbia and Puerto Rico.

“The coverage of the Sequenom CMM MaterniT21 PLUS LDT by the Coventry network is an important milestone, as it will ensure that doctors who are Coventry members will have access to this important testing service to help provide expectant families with important information about their pregnancy through a noninvasive, highly accurate technology,” said Harry F. Hixson, Jr., Ph.D., Chairman and CEO, Sequenom, Inc.

The MaterniT21 PLUS LDT is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks gestation. In the United States, there are an estimated 750,000 high-risk pregnancies each year. Results of the MaterniT21 PLUS LDT delivered to ordering physicians will include the presence of trisomy 21, 18 or 13 for patients at increased risk of one of these anomalies. The MaterniT21 PLUS test is available through Sequenom CMM as a testing service to physicians. To learn more, please visit Sequenomcmm.com.

About Sequenom

Sequenom, Inc. (SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at http://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

Sequenom CMM, LLC

Sequenom Center for Molecular Medicine (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, is developing a broad range of laboratory-developed tests with a focus on prenatal and ophthalmic diseases and conditions. These laboratory-developed tests provide beneficial patient management options for obstetricians, geneticists, maternal fetal medicine specialists, ophthalmologists and retinal specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the Company’s expectations and future performance under the coverage agreement with Coventry Health Care, the benefits or impact of the coverage agreement, the intended use for the MaterniT21 PLUS LDT and expectations regarding the future performance, utility, and impact of the test, the Company’s commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM changing the landscape in genetic disorder diagnostics, are forward-looking statements within the meaning of the “safe harbor” provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with market demand for and acceptance and use by customers of new products such as the MaterniT21 PLUS LDT, reliance upon the collaborative efforts of other parties, the Company’s financial position, its ability to position itself for product launches and growth and develop and commercialize new technologies and products, particularly new technologies such as noninvasive prenatal diagnostics, laboratory developed tests, and genetic analysis platforms, the Company’s ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, government regulation particularly with respect to diagnostic products and laboratory developed tests, obtaining or maintaining regulatory approvals, litigation involving the Company, and other risks detailed from time to time in the Company’s most recently filed Quarterly Report on Form 10-Q and Annual Report on Form 10-K for the year ended December 31, 2011, and other documents subsequently filed with or furnished to the Securities and Exchange Commission. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

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Sequenom Announces Coverage Agreement With Coventry Health Care For Sequenom Center For Molecular Medicine's …