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.

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Abraham’s genetic threads | Gene Expression

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.

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Schizophrenia’s core genetic features proposed

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

The rest is here:
Lung cancer molecular subtypes correlate with genetic alterations, patient's response to therapy

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In Sperm Banks, a Matrix of Untested Genetic Diseases

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.”

Link:
Genetic test can accurately predict spread of eye cancer

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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.

See original here:
Given number of inheritors, donor sperm carries risk of genetic harm

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.”

Continued here:
Genetic test identifies eye cancer tumors likely to spread

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.

The rest is here:
Genetic ‘Signature’ Predicts Breast Cancer Chemotherapy Response: Study

Newswise Melanoma the deadliest and most aggressive form of skin cancer has long been linked to time spent in the sun. Now a team led by scientists from the Broad Institute and Dana-Farber Cancer Institute has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes important in tumor formation.

In an article published online May 9 in Nature, the authors provide the first high-resolution view of the genomic landscape of human melanoma tumors. Previous genetic analyses have focused on the exomes of many types of cancer tumors, concentrating on the tiny fraction of the genome that provides the genetic code for producing proteins. Whole genomes contain a wealth of genetic information, and by sequencing and analyzing 25 metastatic melanoma tumors a significant technical and computational feat scientists can learn vastly more about the variety of genetic alterations that matter in melanoma.

Sequencing the whole genome certainly adds a richness of discovery that cant be fully captured with a whole exome, said Levi A. Garraway, a senior associate member of the Broad Institute, an associate professor at Dana-Farber Cancer Institute and Harvard Medical School, and co-senior author of the paper.

By looking across the entire genome you can more accurately determine the background mutation rate and the different classes of mutations, and more confidently describe the pattern of ultraviolet-induced mutagenesis in melanoma, said Michael F. Berger, co-first author of the paper. He worked in the Broads cancer genome analysis group and with Garraway as a research scientist and computational biologist before moving to Memorial Sloan-Kettering Cancer Center.

When the scientists explored the whole genome data generated and analyzed at the Broad, they found that the rates of genetic mutations rose along with chronic sun exposure in patients, confirming the role of sun damage in disease development.

Whole-genome analysis of human melanoma tumors shows for the first time the existence of many structural rearrangements in this tumor type, said Lynda Chin, a senior associate member of the Broad and co-senior author of the paper. Formerly at Dana-Farber and Harvard Medical School, she is now chair of the Department of Genomic Medicine at the University of Texas MD Anderson Cancer Center.

As expected, the scientists detected known BRAF and NRAS mutations in 24 of the 25 tumors. Both genes are involved in sending signals important in cell growth.

One other gene leaped out: PREX2, previously implicated in breast cancer for blocking a tumor-suppressor pathway, was altered in 44 percent of patients. In a larger validation cohort of 107 tumors, the frequency of the mutation was 14 percent.

PREX2 is mutated in a convergence of genetic disruption that appears to accelerate tumor development. Its mutations occurred not just at hot spots that typically turn on an oncogene, a type of cancer-causing gene, and drive cancer forward. The alterations were also scattered across the length of the gene in a pattern typically seen when another type of cancer-causing gene, known as tumor suppressors, are turned off.

The pattern of mutations here looks a lot more like a tumor suppressor gene, but from the functional experiments, it behaved more like an oncogene, Berger said.

More:
New Under the Sun: Recurrent Genetic Mutations in Melanoma

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.

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

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.

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

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.

###

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

Public release date: 10-May-2012 [ | E-mail | Share ]

Contact: Dr. Hilary Glover hilary.glover@biomedcentral.com 44-020-319-22370 BioMed Central

Chemotherapy is a major first line defense against breast cancer. However a patient’s response is often variable and unpredictable. A study published in BioMed Central’s open access journal BMC Medical Genomics shows that ‘gene expression signatures’ for TOP2A and -tubulin can be used to predict the outcome of chemotherapy.

The goal of personalized medicine in cancer treatment is to target therapy to the characteristics of the individual tumor. For example Herceptin treatment is of most benefit to patients whose cancer is driven by HER2 and antiestrogens benefit patients whose breast cancer is hormonally driven. Gene signatures are increasingly available for different cancer types and can be used to predict patient prognosis.

Researchers from McMaster University, in association with the Juravinski Hospital and Cancer Center, analyzed the expression of the enzyme TOP2A (DNA topoisomerase) and -tubulin, which are the targets of commonly used chemotherapy drugs (anthracycline and taxane) in hundreds of breast tumors. Combining the results from the tumor samples analyses allowed the researchers to build gene expression ‘signatures’ that measure the susceptibility of tumor cells to chemotherapy.

Both of the ‘signatures’ were separately able to predict which patients achieved a complete response (where invasive or metastatic cancer could no longer be detected) and together the two indices together were even more accurate at predicting response to chemotherapy.

Prof John Hassell, who led this study, commented, ” Our results clearly demonstrate the practicality of using gene expression to personalize chemotherapy treatment for breast cancer patients. Identifying patients who will not benefit from a specific treatment means that they can be moved to a different treatment plan, and the earlier appropriate treatment is started the more likely it is that the patients will benefit from it.”

###

Media Contact Dr Hilary Glover Scientific Press Officer, BioMed Central Tel: +44 (0) 20 3192 2370 Mob: +44 (0) 778 698 1967 Email: hilary.glover@biomedcentral.com

Notes to Editors

See the original post here:
Genetic predictor of breast cancer response to chemotherapy

www.youtube.com/watch?v=LnVfPRhTYlY

View post:
Autism – A Functional Medicine Approach to Treatment- a webinar presented on 12-15-2010 – Video

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

Read the original:
New Genetic Discoveries and Treatment for Hepatitis C [Viewpoint]

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/.

See the original post:
Innovators in Pediatric Cancer to Share Progress on Ground-Breaking Personalized Medicine Clinical Trial

Public release date: 7-May-2012 [ | E-mail | Share ]

Contact: David Sampson ajpmedia@elsevier.com 215-239-3171 Elsevier Health Sciences

Philadelphia, PA, May 7, 2012 While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers from the University of Pittsburgh School of Medicine have found that a genetic abnormality known as copy number variation (CNV) in prostate cancer tumors, as well as in the benign prostate tissues adjacent to the tumor and in the blood of patients with prostate cancer, can predict whether a patient will experience a relapse, and the nature of the relapse aggressive or indolent. Their report is published in the June issue of The American Journal of Pathology.

Copy number variations are large areas of the genome with either duplicated or missing sections of DNA. “Our analysis indicates that CNV occurred in both cancer and non-cancer tissues, and CNV of these tissues predicts prostate cancer progression,” says lead investigator Jian-Hua Luo, MD, PhD, associate professor in the Divisions of Molecular and Cellular Pathology, and Anatomic Molecular Pathology, Department of Pathology, University of Pittsburgh School of Medicine. “Prediction models of prostate cancer relapse, or of the rate of PSA level increase after surgery, were generated from specific CNV patterns in tumor or benign prostate tissues adjacent to cancer samples.”

To detect the abnormalities, scientists conducted a comprehensive genome analysis on 238 samples obtained from men undergoing radical prostatectomy: 104 prostate tumor samples, 85 blood samples from patients with prostate cancer, and 49 samples of benign prostate tissues adjacent to a tumor. A third of the samples were from patients exhibiting recurrence with a PSA level increasing at a rapid rate, doubling in less than four months (rapid increases are associated with lethal prostate cancer); a third from patients exhibiting recurrence with a PSA level increasing at a slow rate, doubling time greater than 15 months; and a third with no relapse more than five years after surgery. Three commercially available prostate cancer cell lines were also tested to validate the results.

Deletions of large segments of specific chromosomes occurred with high frequency, whereas amplification of other chromosomes occurred in only a subset of prostate cancer samples. Similar amplification and deletion of the same regions also occurred in benign prostate tissue samples adjacent to the cancer. Prostate cancer patients’ blood was found to contain significant CNVs. Most were not unique and overlapped with those of prostate cancer samples.

Using gene-specific CNV from tumor, the model correctly predicted 73% of cases for relapse and 75% of cases for short PSA doubling time. The CNV model from tissue adjacent to the prostate tumor correctly predicted 67% of cases for relapse and 77% of cases for short PSA doubling time. Using median-size CNV from blood, the genome model correctly predicted 81% of the cases for relapse and 69% of the cases for short PSA doubling time.

Dr. Luo notes that there are several potential clinical applications using CNV tests. “For a patient diagnosed with prostate cancer, CNV analysis done on blood or normal tissues would eliminate the need for additional invasive procedures to decide a treatment mode. For a patient already having a radical prostatectomy, CNV analysis on the tumor or blood sample may help to decide whether additional treatment is warranted to prevent relapse. Despite some limitations, including the need for high quality genome DNA, CNV analysis on the genome of blood, normal prostate, or tumor tissues holds promise to become a more efficient and accurate way to predict the behavior of prostate cancer.”

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Read the original here:
Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer

Source:
http://www.genetics.org/rss/current.xml

Source:
http://www.genetics.org/rss/current.xml