PUBLIC RELEASE DATE:

12-Nov-2014

Contact: Jane Finlayson jane.finlayson@uhn.ca 416-946-2846 University Health Network @UHN_News

(TORONTO, Canada - Nov. 13, 2014) - Prostate cancer researchers have developed a genetic test to identify which men are at highest risk for their prostate cancer to come back after localized treatment with surgery or radiotherapy.

The findings are published online today in Lancet Oncology. Study co-leads Dr. Robert Bristow, a clinician-scientist at Princess Margaret Cancer Centre, and Dr. Paul Boutros, an investigator at the Ontario Institute for Cancer Research, report that the gene test provides a much-needed quick and accurate tool to determine with greater precision the men who will do well with local treatment only (surgery or radiation), and those who will need extra treatment (chemotherapy and hormone therapy) to ensure the cancer is completely eradicated. Dr. Bristow talks about the research at http://youtu.be/7dZyVm_y5WU

"Our findings set the stage to tackle the ongoing clinical problem of under-treating men with aggressive disease that will recur in 30% to 50% of patients due to hidden, microscopic disease that is already outside the prostate gland during initial treatment," says Dr. Bristow.

"This genetic test could increase cure rates in intermediate- to high-risk men by preventing progression to this metastatic spread of prostate cancer." The next step will be testing the gene signature on many more patients worldwide for three to five years to turn the test into one that is readily available in the clinic to guide personalized prostate cancer treatments.

The predictive test analyses biopsy tissue taken before treatment even starts to identify abnormal genetic characteristics (abnormal DNA) of the prostate cancer and its oxygen content. Low oxygen, or hypoxia, is an already known factor in the spread of prostate cancer. Together, this information can predict with almost 80% accuracy - and in about three days - those prostate cancer patients who are at greatest risk of their disease returning, the study shows.

"The clinical potential is enormous for thousands of patients," says Dr. Bristow. "This is personalized cancer medicine to the hilt - the ability to provide more targeted treatment to patients based on their unique cancer genetic fingerprint plus what's going on in the cancer cell's surrounding environment. We hope to improve cure rates by reducing the chances of the cancer recurring and prevent the cells from spreading."

The researchers developed the genetic test with two groups of patients. In the first group, the team analyzed DNA from initial diagnostic biopsies of 126 men who were treated with image-guided radiotherapy (IGRT) and followed for an average 7.8 years. In the second group, the team used the test on 150 men whose tumours were removed surgically (radical prostatectomy). The genetic test produced similar results in both groups and therefore can be used in patients who choose radiotherapy or surgery as their initial treatment.

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Prostate cancer researchers develop personalized genetic test to predict recurrence risk

CTVNews.ca Staff Published Wednesday, November 12, 2014 6:30PM EST Last Updated Wednesday, November 12, 2014 8:47PM EST

Canadian researchers have developed a new genetic test to identify prostate cancer patients who are at highest risk of recurrence after surgery or radiotherapy.

By analyzing DNA from diagnostic biopsies of men who underwent either surgery or image-guided radiotherapy to treat their prostate cancer, the researchers came up with a test that can determine with greater precision which men will need extra treatment, such as chemotherapy, to ensure that the cancer is eradicated.

The findings were published online Tuesday in the Lancet Oncology journal.

This genetic test could increase cure rates in intermediate- to high-risk men by preventing progression to this metastatic spread of prostate cancer, Dr. Robert Bristow, a clinician-scientist at Princess Margaret Cancer Centre in Toronto, said in a news release.

The test is currently still in research mode, Bristow told The Canadian Press. The hope is that the test will be validated, approved by Health Canada and ready for use in five years.

Bristow is the co-lead of the study, along with Dr. Paul Boutros, an investigator at the Ontario Institute for Cancer Research.

Hypoxia, or low oxygen, is a known factor is the spread of prostate cancer. The newly developed test can identify the cancers oxygen content, as well as the tumours abnormal genetic characteristics to determine which patients are at greatest risk of their prostate cancer returning, the study says.

The study showed that, among patients whose tumours had low levels of genetic changes and low hypoxia, the cancer recurrence rate was lower than seven per cent after five years.

Men with high levels of genetic changes and high hypoxia had much worse outcomes. More than 50 per cent of those patients had a recurrence of cancer.

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Genetic test predicts prostate cancer recurrence

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Newswise (TORONTO, Canada Nov. 13, 2014) Prostate cancer researchers have developed a genetic test to identify which men are at highest risk for their prostate cancer to come back after localized treatment with surgery or radiotherapy.

The findings are published online today in Lancet Oncology. Study co-leads Dr. Robert Bristow, a clinician-scientist at Princess Margaret Cancer Centre, and Dr. Paul Boutros, an investigator at the Ontario Institute for Cancer Research, report that the gene test provides a much-needed quick and accurate tool to determine with greater precision the men who will do well with local treatment only (surgery or radiation), and those who will need extra treatment (chemotherapy and hormone therapy) to ensure the cancer is completely eradicated. Dr. Bristow talks about the research at http://youtu.be/7dZyVm_y5WU

Our findings set the stage to tackle the ongoing clinical problem of under-treating men with aggressive disease that will recur in 30% to 50% of patients due to hidden, microscopic disease that is already outside the prostate gland during initial treatment, says Dr. Bristow.

This genetic test could increase cure rates in intermediate- to high-risk men by preventing progression to this metastatic spread of prostate cancer. The next step will be testing the gene signature on many more patients worldwide for three to five years to turn the test into one that is readily available in the clinic to guide personalized prostate cancer treatments.

The predictive test analyses biopsy tissue taken before treatment even starts to identify abnormal genetic characteristics (abnormal DNA) of the prostate cancer and its oxygen content. Low oxygen, or hypoxia, is an already known factor in the spread of prostate cancer. Together, this information can predict with almost 80% accuracy and in about three days those prostate cancer patients who are at greatest risk of their disease returning, the study shows.

The clinical potential is enormous for thousands of patients, says Dr. Bristow. This is personalized cancer medicine to the hilt the ability to provide more targeted treatment to patients based on their unique cancer genetic fingerprint plus whats going on in the cancer cells surrounding environment. We hope to improve cure rates by reducing the chances of the cancer recurring and prevent the cells from spreading.

The researchers developed the genetic test with two groups of patients. In the first group, the team analyzed DNA from initial diagnostic biopsies of 126 men who were treated with image-guided radiotherapy (IGRT) and followed for an average 7.8 years. In the second group, the team used the test on 150 men whose tumours were removed surgically (radical prostatectomy). The genetic test produced similar results in both groups and therefore can be used in patients who choose radiotherapy or surgery as their initial treatment.

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Prostate Cancer Researchers Develop Personalized Genetic Test to Accurately Predict Recurrence Risk

TORONTO - Canadian researchers have developed a genetic test to identify which men are at highest risk for recurrence of prostate cancer following localized treatment with surgery or radiation therapy.

The genetic test provides a quick and highly accurate tool to determine which men with prostate cancer would do well with only surgery or radiation, and those who would need additional treatment chemotherapy and hormone therapy, say the researchers, whose findings are described in Wednesday's online edition of the journal Lancet Oncology.

"Our findings set the stage to tackle the ongoing clinical problem of under-treating men with aggressive disease that will recur in 30 per cent to 50 per cent of patients due to hidden, microscopic disease that is already outside the prostate gland during initial treatment," said Dr. Robert Bristow, a clinician-scientist at Princess Margaret Cancer Centre in Toronto.

"This genetic test could increase cure rates in intermediate- to high-risk men by preventing progression to this metastatic spread of prostate cancer," said Bristow, who co-led the study with Dr. Paul Boutros, a scientist at the Ontario Institute for Cancer Research.

The predictive test analyzes biopsy tissue taken before treatment even starts to identify abnormal genetic characteristics in the tumour and its oxygen content. Low oxygen, known as hypoxia, makes prostate cancer cells "leaner and meaner," giving them the ability to invade blood vessels and spread throughout the body.

Together, this information can predict with almost 80 per cent accuracy which men with prostate cancer are at greatest risk of their disease returning in the form of secondary tumours outside the prostate, the study shows.

"The clinical potential is enormous for thousands of patients," said Bristow. "This is personalized cancer medicine to the hilt the ability to provide more targeted treatment to patients based on their unique cancer genetic fingerprint plus what's going on in the cancer cell's surrounding environment. We hope to improve cure rates by reducing the chances of the cancer recurring and prevent the cells from spreading."

An estimated 23,600 Canadian men will be diagnosed this year with prostate cancer, the most common cancer diagnosed in men and the third leading cause of death from cancer. About 4,000 Canadians will die from the disease this year, according to Canadian Cancer Society statistics.

The researchers developed the genetic test with two groups of patients. In the first group, they analyzed DNA in biopsied cancer cells from 126 men who were treated with image-guided radiotherapy, monitoring them for an average of eight years. The test was also used in a second group of 150 men whose tumours were removed surgically.

The study showed that the men with the best outcomes those who had a less than seven per cent recurrence of prostate cancer at five years had low levels of genetic changes and little hypoxia. For men with high levels of genetic changes and high hypoxia, outcomes were worse more than half had their cancer come back.

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Personalized genetic test could predict prostate cancer recurrence

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Newswise INDIANAPOLIS -- People with a newly identified genetic variant perform better on certain types of memory tests, a discovery that may point the way to new treatments for the memory impairments caused by Alzheimer's disease or other age-associated conditions.

In what the international research team is calling the largest study to date of human memory, an analysis of genomic data and memory test results from more than 14,000 older adults identified a location in the genome that was associated with better memory performance. The researchers noted that the gene has not been associated with cognition in the past.

The research team, led by IU School of Medicine post-doctoral researcher and medical student Vijay K. Ramanan, Ph.D., and Andrew J. Saykin, Psy.D., director of the Indiana Alzheimer Disease Center and the IU Center for Neuroimaging, reported its results in the journal Molecular Psychiatry.

The genome-wide study found that better performance on tests of episodic memory was associated with a change in the DNA on chromosome 2 -- a G instead of the more common A nucleotide in a gene known as FASTKD2. The genetic variant -- known as a single nucleotide polymorphism, or SNP -- was also associated with a larger hippocampus and more dense gray matter in the brain on magnetic resonance imaging scans. The hippocampus is a brain structure involved in storing and retrieving memory. The inability to recall a recent current event, a newspaper article or what one had for dinner is one of the earliest symptoms of Alzheimer's disease and is also related to hippocampal atrophy.

The FASTKD2 gene is responsible for the production of a protein involved in apoptosis, a process of programmed cell death. The researchers also examined cerebrospinal fluid samples from 82 participants and found lower levels of proteins associated with cell death in the participants with the memory-protective G variant.

More research will be needed to determine whether drugs targeting the FASTKD2 gene could be used to protect against memory loss and related issues in Alzheimer's disease, Dr. Saykin said.

"There is likely no single 'memory gene'; we expect that memory is driven by a combination of multiple genes along with environment and lifestyle," Dr. Saykin said. "Although the influence of FASTKD2 was modest, there are parallels to research in diabetes, cancer and hypertension that uncovered genetic variants with similar effects that turned out to be targets for drugs that are now commonly used."

Other researchers contributing to the work were Kwangsik Nho, Ph.D., Li Shen, Ph.D., Shannon L. Risacher, Ph.D., Sungeun Kim, Ph.D., Brenna C. McDonald, Psy.D., Martin R. Farlow, M.D., Tatiana M. Foroud, Ph.D., and Sujuan Gao, Ph.D., of the IU School of Medicine; on behalf of the AddNeuroMed Consortium: Hilkka Soininen, M.D., Ph.D. University of Eastern Finland; Iwona Koszewska, M.D., Ph.D., Medical University of Lodz, Poland; Patrizia Mecocci, M.D., Ph.D., University of Perugia, Italy; Magda Tsolaki, M.D., Ph.D., Aristotle University, Greece; Bruno Vellas, M.D., Ph.D., University of Toulouse, France and Simon Lovestone, Ph.D., MRCPsych, University of Oxford, U.K.; Paul S. Aisen, M.D., University of California, San Diego; Ronald C. Petersen, M.D., and Clifford R. Jack, Jr., M.D., Mayo Clinic Minnesota; Leslie M. Shaw, Ph.D., and John Q. Trojanowski, Ph.D., University of Pennsylvania School of Medicine; Michael W. Weiner, M.D., University of California, San Francisco; Robert C. Green, M.D., M.P.H., and Philip L. De Jager, M.D., Ph.D., Harvard Medical School; Arthur W. Toga, Ph.D., University of Southern California; Lei Yu, Ph.D., and David A. Bennett, M.D., Rush University Medical Center, Chicago.

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IU-Led Research Team Identifies Genetic Variant Linked to Better Memory Performance

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Newswise (NEW YORK November 10) The Icahn School of Medicine at Mount Sinais Institute for Personalized Medicine is launching a study designed to learn whether patients, who are aware of their genetic predisposition to chronic kidney disease, are more inclined to engage in proactive lifestyle modification with their primary care physician.

Chronic kidney disease affects about 26 million American adults. Many studies have shown that African Americans are up to seven times more likely than any other population to develop high blood pressure and subsequent complications, such as kidney disease. A large fraction of the kidney disease disparity is attributable to variations, or differences, in a single gene called apolipoprotein L1 (APOL1). In Mount Sinais specialized laboratory, variations in the APOL1 gene can be identified with a simple blood test.

Erwin Bottinger, MD, Director, Charles Bronfman Institute for Personalized Medicine in the Icahn School of Medicine at Mount Sinai is one of the studys Principal Investigators. Many patients do not have their blood pressure adequately controlled to minimize the risk for complications such as kidney disease. We will test whether sharing genetic risk information with patients and alerting their doctors through a patient's electronic health record, will achieve better control of blood pressure to reduce kidney disease risk.

Dr. Bottinger and Co-Principal Investigator Carol Horowitz, MD, MPH, are seeking to enroll approximately two thousand African American participants with hypertension for their year-long study: Genetic testing to Understand and Address Renal Disease Disparities (The GUARDD Study). Funded by the National Human Genome Research Institute (NHGRI) the study will be conducted in a network of community health centers and primary care facilities in Northern Manhattan and the South Bronx, affiliated with the Icahn School of Medicines Institute for Family Health and at primary care facilities of The Mount Sinai Health System.

At the first study visit, all study participants will be asked to complete medical and family health histories, blood pressure, height, and weight measurements. If eligible, each individual will be randomly assigned to one of two groups. Group 1 will have blood drawn for genetic testing and return within 4 weeks later to discuss the results with a member of the research team. They will also be given printed information to share with their primary care physician. Those participants will return after 3 months and 12 months for a blood pressure check and to complete follow-up surveys.

Individuals in Group 2 will receive the genetic testing until the end of the study but will be asked to return at 3 and 12 months for the same measurements as those in Group 1. Primary care providers for patients enrolled in the study will also receive the results of the APOL1 genetic test and information about the test through alerts in the patients electronic medical record.

We are translating the latest scientific developments for both patients and their primary care physicians, says Dr. Horowitz. While we cant guarantee results, we are hopeful participants who know they carry the APOL1 gene variant will engage in proactive behaviors, under their doctors supervision to forestall renal failure often associated with hypertension.

Neil Calman, MD, President and Chief Executive Officer of the Institute for Family Health, and Professor and Chair of Family Medicine and Community Health at Mount Sinai said, Armed with this genetic information, African Americans with high blood pressure who carry variations in this gene will be able to focus on the management of their high blood pressure with their primary care providers, helping to prevent the onset of the devastating effects of kidney failure.

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Study to Assess if Knowing About Genetic Risk For Kidney Disease Changes a Person's Lifestyle

PUBLIC RELEASE DATE:

11-Nov-2014

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego @UCSanDiego

With the help of mouse models, induced pluripotent stem cells (iPSCs) and the "tooth fairy," researchers at the University of California, San Diego School of Medicine have implicated a new gene in idiopathic or non-syndromic autism. The gene is associated with Rett syndrome, a syndromic form of autism, suggesting that different types of autism spectrum disorder (ASD) may share similar molecular pathways.

The findings are published in the Nov. 11, 2014 online issue of Molecular Psychiatry.

"I see this research as an example of what can be done for cases of non-syndromic autism, which lack a definitive group of identifying symptoms or characteristics," said principal investigator Alysson Muotri, PhD, associate professor in the UC San Diego departments of Pediatrics and Cellular and Molecular Medicine. "One can take advantage of genomics to map all mutant genes in the patient and then use their own iPSCs to measure the impact of these mutations in relevant cell types. Moreover, the study of brain cells derived from these iPSCs can reveal potential therapeutic drugs tailored to the individual. It is the rise of personalized medicine for mental/neurological disorders."

But to effectively exploit iPSCs as a diagnostic tool, Muotri said researchers "need to compare neurons derived from hundreds or thousands of other autistic individuals." Enter the "Tooth Fairy Project," in which parents are encouraged TO register for a "Fairy Tooth Kit," which involves sending researchers like Muotri a discarded baby tooth from their autistic child. Scientists extract dental pulp cells from the tooth and differentiate them into iPSC-derived neurons for study.

"There is an interesting story behind every single tooth that arrives in the lab," said Muotri.

The latest findings, in fact, are the result of Muotri's first tooth fairy donor. He and colleagues identified a de novo or new disruption in one of the two copies of the TRPC6 gene in iPSC-derived neurons of a non-syndromic autistic child. They confirmed with mouse models that mutations in TRPC6 resulted in altered neuronal development, morphology and function. They also noted that the damaging effects of reduced TRPC6 could be rectified with a treatment of hyperforin, a TRPC6-specific agonist that acts by stimulating the functional TRPC6 in neurons, suggesting a potential drug therapy for some ASD patients.

The researchers also found that MeCP2 levels affect TRPC6 expression. Mutations in the gene MeCP2, which encodes for a protein vital to the normal function of nerve cells, cause Rett syndrome, revealing common pathways among ASD.

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Multiple models reveal new genetic links in autism

The first close look at the genetic code of a domestic cat suggests that food rewards from people brought man and feline together, based on genome variations associated with memory and reward behaviors.

The study also identified how cats evolved to lead solitary, meat-eating lives, and finds that, perhaps unsurprisingly, cats arent quite as domesticated as dogs.

The domestic cat genome shows a relatively small number of changed genetic regions compared to domesticated dogs, said Wesley Warren of the Genome Institute at Washington University School of Medicine in Saint Louis, who led the study. Cats are clearly still very independent in their behaviors, and, importantly, still interbreed with wild populations.

Americans alone own 96 million cats, according to the Humane Society. The findings, published yesterday in the Proceedings of the National Academy of Sciences, may help researchers better understand and treat cat diseases, including illnesses shared with humans, such as kidney calcification.

Cat domestication began about 9,000 years ago, an estimate based on the remains of a cat laid carefully next to those of a human at an ancient Cyprus burial site, though most of the 30 to 40 cat breeds today originated just 150 years ago, previous research has found.

To examine what happened during that domestication process, Warren and colleagues sequenced the genome of a female Abyssinian cat named Cinnamon and compared her DNA to genomes from six other domestic cat breeds, two wild cat species, and to the genome of a tiger, dog, cow, and human.

Many of the genes identified as changed in domestic cats have been linked to reward responses, memory and fear conditioning, studies in mice have shown. The genome changes suggest cats became tame as they became less fearful of humans and more responsive to being rewarded with food.

The feline genetic code also offered insight into how cats evolved away from other mammals.

Compared to omnivorous humans and herbivorous cows, carnivorous cats appear to have more quickly evolved genes that bestow an enhanced ability to digest heavy fats found in meat. A study in polar bears published earlier this year found the same genetic adaptation in the DNA of the meat-loving Arctic bear.

In addition, by comparing cat and dog genomes, the researchers found a unique evolutionary trade-off between the two groups: While dogs evolved an unsurpassed sense of smell, cats traded in those smell receptor genes for genes that enhanced their ability to sense pheromones, odorless substances that enable animals of the same species to communicate, such as to find a mate.

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If Your Cat Doesnt Like You Much, Blame Its Genome

For entertainment giants such as Netflix and HBO, theres an oft-cited concept known as the last mile.

It refers to the performance bottleneck that can arise in the short, final stretch of cable that links their vast, sophisticated server farms to the humble jack on a subscribers wall.

More than a decade after the immense promise unleashed by the completion of Human Genome Project, precision medicine has struggled with its own last mile. Despite major leaps in the field as a whole, the technical work needed to integrate a patients genomic information into the day-to-day practice of medicine has lagged far behind.

This month, UCSF is unveiling its bridge across that persistent gap.

Kristen McCaleb, PhD, program manager for the UCSF Genomic Medicine Initiative, and Jonathan Hirsch, founder of Syapse. Photo by Elisabeth Fall

Robert Nussbaum, MD, leads the UCSF Genomic Medicine Initiative. Photo by Cindy Chew

Through its Genomic Medicine Initiative (GMI), UCSF has integrated data from a comprehensive cancer genetic testing program into the electronic medical records of patients at the UCSF Medical Center. Not only does it allow for continuity of care with all testing and treatment results tied to the same electronic record, but it also allows physicians and researchers to identify larger patterns in the data that can lead to the development of better treatments which is known as precision medicine.

Many major medical institutions, including UCSF, have long had the science and the technology to generate genomic test results, said Kristen McCaleb, PhD, program manager for the GMI who partnered with the Helen Diller Comprehensive Cancer Center on the project. The problem weve had is a lack of IT infrastructure to return those results to the clinicians who order the tests in a clearly actionable, doctor-friendly format.

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Bridging the Gap in Precision Medicine

Search giant hopes service will be popular with drug firms and researchers Can use Google's vast servers tocompareinformation National Cancer Institute moved its Cancer Genome Atlas onto service

By Mark Prigg for MailOnline

Published: 14:42 EST, 7 November 2014 | Updated: 15:00 EST, 7 November 2014

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Google already offers storage for your emails, photos and documents.

Now, it wants to take things a step further - and store your genetic information online.

The firm hopes its Google Genome project will lead to personalised drugs -and will charge just 25 per person to store data on its servers.

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Google set to store genetic information for $25 per person in bid to boost personalised medicine

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Newswise Angelina Jolies decision to undergo a double mastectomy inspired many other women to seek genetic counseling, too. But for women in rural areas, getting a genetic test can impose its own set of barriers, like multiple long trips for counseling, testing and follow-up. New research by Anita Kinney, PhD, RN, offers some hope. The research showed that telephone counseling was just as effective as in-person counseling in many respects. Dr. Kinney, now at the University of New Mexico Cancer Center, and her colleagues published the work in the Journal of the National Cancer Institute.

The research team identified the 988 women in the study as being at-risk for hereditary breast or ovarian cancer or both. They gave each a personalized brochure and other materials about genetic testing. A board-certified genetic counselor reviewed the materials with each woman. The research team assigned about half of the women to meet with the genetic counselor in person; they assigned the other half to talk with the counselor over the phone. They surveyed the women one week after initial counseling.

If a woman chose to have genetic testing after talking with the counselor, the researchers gave or mailed her a genetic testing kit. Each kit contained instructions explaining how to take a cheek-swab DNA sample and mail it for testing. Women who were tested also discussed their results with the genetic counselor and were surveyed one week after their test result counseling session. The researchers surveyed all the women again after six months.

More of the women who talked with a genetic counselor in person chose to get a genetic test than women who talked with a counselor over the phone. But the research team found no difference between the groups in measures of anxiety, distress, quality of life and knowledge gained. They also found no difference in how the women felt about the counseling sessions.

The researchers suggest that more women who received in-person counseling chose to undergo genetic testing because they could give their DNA sample and send it for testing immediately. Women counseled on the phone may have changed their minds because they had to wait for the testing kit to arrive in the mail and then had to drive to a mailing location to send the kit. The researchers suggest further study to understand how women make these decisions.

But the study showed that genetic counseling over the phone was just as helpful as in-person counseling. Over-the-phone counseling gave women the information they needed to make a decision about genetic testing. And it explained the results of the genetic testing for urban and rural women.

This research shows that using the telephone is a viable alternative to in-person genetic counseling, Dr. Kinney says. Using the phone, we can effectively increase womens access to genetic counseling services. And that can help them make informed and life-saving decisions for their health no matter where they live.

About Anita Kinney PhD, RN Anita Kinney, PhD, RN, is a Professor in the Department of Internal Medicine, Division of Epidemiology, at the UNM School of Medicine and is The Carolyn R. Surface Endowed Chair in Cancer Control and Population Sciences. Dr. Kinney serves as Associate Director for Population Sciences and as Cancer Control Research Program Co-Leader at the UNM Cancer Center. She trained at the University of Pennsylvania, UT-Houston School of Public Health, the University of North Carolina-Chapel Hill, and the National Cancer Institute. Dr. Kinney is an internationally recognized and highly acclaimed expert in cancer prevention and public health. Her research focuses on understanding variations in cancer risk and outcomes, in diverse populations and communities and developing effective strategies to prevention and control cancer.

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Phones Bring Genetic Counseling to Rural Women

A powerful new genetic test that scans for rare childhood diseases is providing faster and more conclusive results than ever before. The test examines the entire genome to identify the single gene mutation that led to the disorder.

When Calvin Lapidus was eight months old, his mother Audrey suspected he was not developing normally, even though his doctors said he was.

By eight months he wasnt sitting up on his own," she recalled. "He wasnt rolling over on his own and he was just missing his milestones.

A frantic odyssey to learn what was wrong led the family to the Clinical Genomics Center at the University of California Los Angeles. The Center had just introduced a test called exome sequencing, an analysis of the entire genome at once, instead of gene by gene. Calvin was its first patient, said Stanley Nelson, a UCLA professor of human genetics and pathology and laboratory medicine.

He described the typical scenario: Children come in with a set of symptoms, a set of problems, a set of issues, and its very difficult for physicians to say which one of 5,000 diseases this patient has.

Some conditions are so rare that a physician may have only seen a few, if any, cases in his or her practice.

Sequencing DNA

The team at the Center extracted and sequenced DNA from blood samples from Calvin and his parents. Then they scanned all the genes simultaneously to find the single mutation that caused the disorder.

Nelson said that on average every location in the genome is examined and re-examined 100 times.

What that means is that we see 50 of the DNA variants that you got from your mom," he said. "We see 50 of the DNA variants that you got from your dad at every single base position in the exome, or in the protein coating part of the genome.

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New Genetic Test Diagnoses Rare Childhood Diseases

PUBLIC RELEASE DATE:

4-Nov-2014

Contact: Garth Hogan ghogan@asmusa.org American Society for Microbiology @ASMnewsroom

WASHINGTON, DC November 4, 2014 Filoviruses like Ebola "edit" genetic material as they invade their hosts, according to a study published this week in mBio, the online open-access journal of the American Society for Microbiology. The work, by researchers at the Icahn School of Medicine at Mount Sinai, the Galveston National Laboratory, and the J. Craig Venter Institute, could lead to a better understanding of these viruses, paving the way for new treatments down the road.

Using a laboratory technique called deep sequencing, investigators set out to investigate filovirus replication and transcription, processes involved in the virus life cycle. They studied the same Ebola virus species currently responsible for an outbreak in West Africa, and also analyzed a related filovirus, Marburg virus, that caused a large outbreak in Angola in 2005 and recently emerged in Uganda. The scientists infected both a monkey and human cell line with both viruses, and analyzed the genetic material produced by each virus, called RNA.

Their results highlight regions in Ebola and Marburg virus RNAs where the polymerase of the virus (a protein that synthesizes the viral RNA) stutters at specific locations, adding extra nucleotides (molecules that form the building blocks of genetic material like DNA and RNA), thereby "editing" the new RNAs. The study found new features at a described RNA editing site in the Ebola glycoprotein RNA, which makes the protein that coats the surface of the virus. Their work also identified less frequent but similar types of editing events in other Ebola and Marburg virus genes the first time this has been demonstrated. Because of these messenger RNA modifications, Ebola and Marburg are potentially making proteins "that we previously didn't realize," said Christopher F. Basler, PhD, senior study author and professor of microbiology at Mount Sinai.

"The bottom line is we know these changes occur but we don't yet know what it really means in the biology of the virus," Basler said. There are many aspects of how the viruses replicate that aren't yet understood, he said, "so we need a complete description of how they grow to develop new strategies used to treat the infections."

The study also illustrated how the filoviruses express their genes, and deep sequencing identified all seven messenger RNAs within six hours of infection.

"Our study suggests that the Ebola virus is making forms of proteins previously undescribed," said lead author Reed Shabman, PhD, an assistant professor at the J. Craig Venter Institute in Rockville, Md. Shabman was at Mount Sinai when the study was initiated. "Understanding the products of these viruses is critical to understanding how to target them."

In addition, he said, proteins produced by the glycoprotein editing site are associated with virulence in animals, "so it's of great interest to understand how that protein is made, and in as much detail as possible."

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Ebola, Marburg viruses edit genetic material during infection

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Newswise Asthma may be more harmful than was previously thought, according to UCLA researchers who found that genetic damage is present in circulating, or peripheral, blood. Doctors previously thought that the genetic damage it caused was limited to the lungs.

In the study, researchers looked for the overexpression of a cytokine called interleukin 13 (IL-13), which is known to mediate inflammation, a critical problem for people with asthma.

The study, which was conducted in an animal model that mimicked human asthma, was the first to assess the role of IL-13 in genetic damage to cells, or genotoxicity, said its senior author, Robert Schiestl, a professor of pathology and radiation oncology at the David Geffen School of Medicine at UCLA.

Asthma is a very widespread disease, and we show for the first time an association between asthma and genotoxicity in peripheral blood, said Schiestl, who also is a professor of environmental health sciences at the Fielding School of Public Health at UCLA. This is important because it shows a whole-body effect from asthma, not just damage in the lungs.

The findings were published today in the peer-reviewed journal Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis.

Schiestl said it appears that IL-13 increases important elements of the inflammatory response, including reactive oxygen species molecules ions or very small molecules that include free radicals. His research team found that ROS-derived oxidative stress induced genetic damage with four types of systemic effects in the peripheral blood: Oxidative DNA damage. Single and double DNA strand breaks. Micronucleus formation. Protein damage.

Schiestl said all four effects causes the chromosomes to become unstable, which could result in a variety of other diseases.

We found four different markers of DNA damage and one marker of protein damage in blood cells in the body periphery, which was very surprising, Schiestl said. This could indicate that other organs in asthmatics have a higher risk of developing disease.

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Genetic Damage Caused by Asthma Shows Up in Circulating Blood Stream, Too

PUBLIC RELEASE DATE:

4-Nov-2014

Contact: Bob Nellis newsbureau@mayo.edu 507-284-5005 Mayo Clinic @MayoClinic

ROCHESTER, Minn. In an international study, Mayo Clinic researchers and collaborators have identified genetic markers that may help in identifying individuals who could benefit from the alcoholism treatment drug acamprosate. The findings, published in the journal Translational Psychiatry, show that patients carrying these genetic variants have longer periods of abstinence during the first three months of acamprosate treatment.

Acamprosate is a commonly prescribed drug used to aid patients in recovery from alcoholism. Mayo researchers studied the association between variation in candidate genes and the length of sobriety in alcohol-dependent patients treated with acamprosate in community-based programs. They found that, when other environmental and physiological factors were considered, patients with the common allele of the genetic variant rs2058878 located in the GRIN2B gene, stayed sober more days than those with a variant allele of the same polymorphism. This finding was replicated in a sample of alcohol-dependent patients treated with acamprosate in a study conducted by collaborators from Germany.

"This association finding is a first step towards development of a pharmacogenetic test allowing physicians to choose appropriate treatment for specific subgroups of alcohol-dependent patients," says Victor Karpyak, M.D., Ph.D., Mayo Clinic psychiatrist and lead author of the article. "We believe that individualized treatment selection will eliminate the need for trial-and-error approaches and improve treatment efficacy in patients with alcohol use disorders."

The Mayo findings support evidence implicating an important role of the N-Methyl-D-aspartate (NMDA) receptors in the treatment effects of acamprosate. The researchers say more studies are needed to determine potential importance of identified genetic variants in the longer-term effects of acamprosate, as well as the molecular and physiological mechanisms behind the drug's action.

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The study was funded in part by the Mayo Clinic Center for Individualized Medicine; the SC Johnson Genomics of Addiction Program at Mayo Clinic; the National Institutes of Health; the National Center for Advancing Translational Sciences; the National Genome Research Network of the German Federal Ministry of Education and Research; the Bundesministerium fr Bildung und Forschung; and the Alfred Krupp von Bolen und Halbach-Stiftung (Foundation).

Other authors include J. M. Biernacka, Ph.D., Jennifer Geske, G.D. Jenkins, J.M. Cunningham, Ph.D., A.A. Leontovich, Ph.D., O.A. Abulseoud, M.D., Daniel Hall-Flavin, M.D., L.L. Loukianova, M.D., Ph.D., T.D. Schneekloth, M.D., M.K. Skime, Richard Weinshilboum, M.D., Mark Frye, M.D., and D.S. Choi, Ph.D., of Mayo Clinic; J. Ruegg, Karolinska Institutet; O. Kononenko, Uppsala University; J. Frank, M.D., M. Rietschel, M.D., F. Kiefer, M.D., and K. F. Mann, M.D., Mannheim-Heidelburg University; and M.M. Nthen, M.D., University of Bonn.

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Mayo Clinic researchers discover genetic markers for alcoholism recovery

One of the countrys premiere pediatric hospitals is challenging the notion that human genes can be patented by filing a lawsuit that, if successful, could lead to a rewriting of patent law and sharply advance the advent of personalized medicine.

The Childrens Hospital of Eastern Ontario argues in court filings that restricting access to genetic information by researchers and clinicians undermines patient care and is morally and legally untenable.

No one should be able to patent human DNA. Its like trying to patent water or air, said Alex Munter, chief executive officer of CHEO. He noted that Canada is one of the only jurisdictions in the Western world that still allows gene patenting.

This poses a significant obstacle to diagnosing and caring for children with a genetic condition and that cant be tolerated, he said. Conversely, striking down the law, will open the door to an era of personalized medicine, where treatments are tailored to specific genetic characteristics.

Mr. Munter said CHEO is taking on the case because it is a leader in genetic research, particularly in the field of rare diseases, but many institutions will benefit if it is successful.

Lawyers for the hospital who are working pro bono filed papers in the Federal Court of Canada on Monday challenging five patents related to genes associated with a heart condition called long QT syndrome.

It is a test case that the hospital hopes will result in parts of the Patent Act being struck down. There are about 7,000 disease genes that are amenable to patenting under existing legislation in Canada.

This is the first Canadian court case to ask the question: Are human genes patentable? said Nathaniel Lipkus of the law firm Gilberts LLP.

Last year, the U.S. Supreme Court ruled that genes can no longer be patented. Biotech companies want to patent genes so they can profit from testing of those genes. When patents are struck down as in the U.S. a company can still market tests but cannot do so exclusively, so the price drops significantly.

The patents being challenged by CHEO are held by the University of Utah but were filed in Canada.

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Bad patents on human genes hinder health care, hospital says

An Ottawa hospital is challenging the legality of gene patents that hamper the ability of doctors to freely screen for potentially deadly genetic diseases without fear of being sued forpatent violations.

On Monday, the Childrens Hospital of Eastern Ontario (CHEO) started a legal process in Federal Court that could decide if human genes can be patented in Canada.

"Its about whether Canadian hospitals can provide genetic testing to Canadian patients and really give them the top quality of care," said Richard Gold, a lawyer and intellectual property expert at McGill University in Montreal, who is advising the hospital pro bono.

Currently, some genetic tests cant be done in Canada because U.S. companies hold patents on the tests and the genes and have threatened legal action if the patents are violated by doing the tests in Canada, rather than the U.S.

The U.S. Supreme Court ruled last year that naturallyoccurring human genes cant be patented and threw out patents held by Myriad Genetics Inc. to look for mutations on the BRCA 1 and BRCA 2 genes associated with much greater risks of breast and ovarian cancer,including a mutation that actorAngelina Jolie revealed she inherited.

CHEOs case centres on patents for genes associated with long QT syndrome, an inherited heart rhythm disorder that typically presents for the first time as a fainting spell or seizure during exercise or tragically in sudden death, said Gail Graham, head of medicine genetics at the Ottawa hospital.

"Genetic technology is just exploding. It's increasingly embedding itself at the heart of medicine," Graham said.

Long QT syndrome is treatable, but it often results in sudden death of a young person. With genetic screening, doctors aim to treat it before tragedy strikes.

The hospital is not allowed to screen for genes associatedwith long QT syndrome because a U.S. company has patented the test and the genes.

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U.S. Gene Patents: Patient Care Stymied In Canada, Hospital Claims

Seth Weinberg, assistant professor at the University of Pittsburgh School of Dental Medicine, looks at a three-dimensional image of his head. He is involved in genetic research into clefting.

PITTSBURGH | Cleft lips and palates in newborns can frighten parents at first, while at the same time the cause of such dramatic impacts on function and appearance has long mystified doctors and scientists.

Those factors led Mary Marazita, who holds a doctoral degree in genetics, to begin researching the genetic causes of clefts in the 1980s.

Since then her research team has widened its focus to include many physical and health impacts that blood relatives of people with clefts can experience from shared gene variants.

While the cleft lip is the most obvious consequence of those variants, Marazita and her team at the Center for Craniofacial and Dental Genetics at the University of Pittsburgh School of Dental Medicine have been working to understand the genetic causes of the more hidden physical and health impacts.

Such abnormalities can include alterations and weaknesses in facial structure and tissue, with a higher risk of developing problems such as poor wound healing and even ovarian, breast and prostate cancers, among others.

A 2011 study she led and published in Nature described it this way:

Studies into the cause of clefts "may well enhance our understanding of other common, complex traits and allow us to move beyond the attitude that cleft lip and palate are only a structural birth defect," the study stated. "Instead, it is a lifelong disorder for which therapies and prevention can promise a fuller and healthier lifespan."

The U.S. Centers for Disease Control and Prevention reports that clefts affect 1 in every 940 live births, about two-thirds of whom are boys, with 8,000 American children born each year with the defect.

The condition occurs in utero when the upper lip and jaw and palate tissue from both sides of the face fail to come together fully during the first trimester, said Weinberg, a research assistant professor at the center.

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Health Risks Hidden in Cleft Palate Gene

PUBLIC RELEASE DATE:

30-Oct-2014

Contact: Leila Gray leilag@uw.edu 206-685-0381 University of Washington Health Sciences/UW Medicine

A newly developed mouse model suggests that genetic factors are behind the mild-to-deadly range of reactions to the Ebola virus.

People exposed to Ebola vary in how the virus affects them. Some completely resist the disease, others suffer moderate to severe illness and recover, while those who are most susceptible succumb to bleeding, organ failure and shock.

In earlier studies of populations of people who have contracted Ebola, these differences are not related to any specific changes in the Ebola virus itself that made it more or less dangerous; instead, the body's attempts to fight infection seems to determine disease severity.

In the Oct. 30 edition of Science, scientists describe strains of laboratory mice bred to test the role of an individual's genetic makeup in the course of Ebola disease. Systems biologists and virologists Angela Rasmussen and Michael Katze from the Katze Laboratory at the University of Washington Department of Microbiology led the study in collaboration with the National Institutes of Health's Rocky Mountain Laboratories in Montana and University of North Carolina at Chapel Hill.

Research on Ebola prevention and treatment has been hindered by the lack of a mouse model that replicates the main characteristics of human Ebola hemorrhagic fever. The researchers had originally obtained this genetically diverse group of inbred laboratory mice to study locations on mouse genomes associated with influenza severity.

The research was conducted in a highly secure, state-of-the-art biocontainment safety level 4 laboratory in Hamilton, Mont. The scientists examined mice that they infected with a mouse form of the same species of Ebola virus causing the 2014 West Africa outbreak. The study was done in full compliance with federal, state, and local safety and biosecurity regulations. This type of virus has been used several times before in research studies. Nothing was done to change the virus.

Interestingly, conventional laboratory mice previously infected with this virus died, but did not develop symptoms of Ebola hemorrhagic fever.

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Genetic factors behind surviving or dying from Ebola shown in mouse study

PUBLIC RELEASE DATE:

31-Oct-2014

Contact: Thania Benios thania_benios@unc.edu 919-962-8596 University of North Carolina at Chapel Hill @Carolina_News

In the war against Ebola one important hurdle has just been cleared by a mouse.

Researchers at the University of North Carolina at Chapel Hill and colleagues have developed the first genetic strain of mice that can be infected with Ebola and display symptoms similar to those that humans experience. This work, published in the current issue of Science, will significantly improve basic research on Ebola treatments and vaccines, which are desperately needed to curb the worldwide public health and economic toll of the disease.

"You can't look for a cure for Ebola unless you have an animal model that mimics the Ebola virus disease spectra," said study co-author Ralph Baric, professor of epidemiology at the UNC Gillings School of Global Public Health and UNC School of Medicine. "For the first time, we were able to produce a novel platform for rapidly developing new mouse models that replicate human disease for this virus, as well as other important emerging human pathogens."

Typical laboratory mice usually do not develop human-like Ebola disease, including the severe symptoms that can prove fatal in humans. So the researchers asked whether all mice are immune to Ebola, or whether some strains of mice are susceptible; and if some are susceptible, could they harness the power of mouse genetics to figure out what genes make someone susceptible to the disease.

To find out, the team, including researchers from the University of Washington and the NIH Rocky Mountain National Laboratory, where the research took place, were able to breed together eight genetic mouse variants and successfully test a strain of mice to permit active research on potential Ebola vaccines and treatments. This model system more accurately reflected the human experience when infected with the virus.

The team was able to show that a combination of genes were involved in producing a range of disease symptoms, such that the genetic variation of the mice directly led to the variety of symptoms that the disease produced. What's more, the researchers pinpointed a single gene that accounted for much of that variation a gene responsible for encoding a protein known as TEK.

"Public perception of Ebola infection typically focuses on the high mortality rate following hemorrhagic fever, but Ebola actually produces a range of disease symptoms," said co-author, Martin Ferris, a research assistant professor of genetics in the UNC School of Medicine. "During an outbreak, it is often difficult to assess the role that genetic variation plays in determining disease severity in people. And if we're going to develop treatments, then we need to know about this genetic variation."

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Improved mouse model will accelerate research on potential Ebola vaccines, treatments