By Amy Norton HealthDay Reporter Latest Prevention & Wellness News

TUESDAY, March 11, 2014 (HealthDay News) -- Commercially available tests can analyze your genetic profile and try to predict your risk of a host of diseases. But a new study suggests they aren't ready for prime time.

The technology, known as whole-genome sequencing, allows scientists to "map" the information encoded in most of the billions of building blocks that make up a person's DNA.

So far, whole-genome sequencing has been used mainly in research. But the hope is that the technology will help fuel a new era of "personalized medicine" -- where doctors will be able to identify patients with gene variants that raise their risk of certain diseases.

In the past few years, the cost of whole-genome sequencing has fallen to the point where it could soon be feasible to use it in everyday health care, said Dr. Frederick Dewey, of Stanford University, the lead researcher on the new study.

But based on his team's findings, Dewey said, a lot more work is needed before that idea becomes reality.

The study, reported in the March 12 issue of the Journal of the American Medical Association, found that sequencing a whole genome remains a fairly daunting task.

And although the commercially available tests are good, they aren't yet reliable enough for routine patient care, Dewey said.

For the study, Dewey's team recruited 12 healthy adults who volunteered a blood sample for whole-genome sequencing.

Overall, testing showed that each patient had between 2 million and 3 million unique variations in their DNA. The researchers then used a software program they had developed to whittle down that sea of information to around 100 genetic variations per person that were deemed worthy of more investigation.

See original here:

Whole-Genome Scans Not Quite Ready for Widespread Use: Study

Published: Wednesday, March 12, 2014, 9:00p.m. Updated 7 hours ago

Individualized treatments tailored to patients' particular genetic makeups is the future of health care. That's what personalized medicine means. Extraordinary advances in biopharmaceutical research will result in a doubling of the market for personalized medicines by 2019, to more than $18 billion. Nearly half the prescription compounds currently in development are individualized therapies.

Targeted treatments save lives, minimize side effects, prevent illnesses and more effectively and efficiently restore health to the sick. But these exciting developments are threatened by recent policy efforts to contain short-term health care costs that sacrifice long-term individual patient outcomes.

Researchers understand the potential of personalized medicine. A recent report from the Tufts Center for the Study of Drug Development found that 94 percent of biopharmaceutical companies are developing personalized medicines. Between 2006 and 2010, their investments in this area increased by 75 percent.

Today, cutting-edge treatments are helping patients fight cancer, diabetes and heart ailments. Scientists have discovered the genetic links behind more than 50 hereditary cancer syndromes. For America's 1.2 million HIV/AIDS patients, new capabilities allow doctors to customize drug cocktails based on the patient's biological characteristics, eliminating many side effects and greatly improving quality of life.

Personalized medicine has been especially effective in treating so-called orphan diseases, rare illnesses that each afflict fewer than 200,000 Americans. But, as a whole, the nearly 7,000 orphans take a significant toll on our country's health.

Unfortunately, Uncle Sam has launched an initiative that could undermine the potential of individualized medicine for decades to come. In the name of cutting costs, the federal government is funding comparative effectiveness research studies to calculate the average impact of different therapies across broad swathes of the population. By de-personalizing medicine and endorsing limited treatment options, the rationale goes, policymakers can cut expenses across the system as a whole.

The problem, of course, is that what works for the average patient isn't always the best course of treatment for any given individual.

The pressure on physicians to make their prescription selections based predominantly on comparative effectiveness research is mounting fast. Proponents have even suggested that recommended drugs be reimbursed at higher rates, while newer, more personalized medicines get short shrift.

Tinkering with the reimbursement system would likely create a conflict of interest for doctors. Ignoring the best interest of the patients, physicians would have a strong incentive to prescribe the medications that win the bureaucrats' seal of approval. This approach will have a chilling effect on innovation, as researchers realize they may have little hope of seeing a return on their intellectual investment.

Follow this link:

Putting patients first

PUBLIC RELEASE DATE:

11-Mar-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5271 The JAMA Network Journals

In an exploratory study involving 12 adults, the use of whole-genome sequencing (WGS) was associated with incomplete coverage of inherited-disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings, although in certain cases WGS will identify genetic variants warranting early medical intervention, according to a study in the March 12 issue of JAMA.

As technical barriers to human DNA sequencing decrease and costs approach $1,000, whole-genome sequencing (WGS) is increasingly being used in clinical medicine. Sequencing can successfully aid clinical diagnosis and reveal the genetic basis of rare familial diseases. Regardless of context, even in apparently healthy individuals, WGS is expected to uncover genetic findings of potential clinical importance. However, comprehensive clinical interpretation and reporting of clinically significant findings are seldom performed, according to background information in the article. The technical sensitivity and reproducibility of clinical genetic findings using sequencing and the clinical opportunities and costs associated with discovery and reporting of these and other clinical findings remain undefined.

Frederick E. Dewey, M.D., of the Stanford Center for Inherited Cardiovascular Disease, Stanford, Calif., and colleagues recruited 12 volunteer adult participants who underwent WGS between November 2011 and March 2012. A multidisciplinary team reviewed all potentially reportable genetic findings. Five physicians proposed initial clinical follow-up based on the genetic findings.

The researchers found that the use of WGS was associated with incomplete coverage of inherited-disease genes (important parts of the genome for diseases that run in families are not as easy to read as other regions); there was low reproducibility of detection of genetic variation with the highest potential clinical effects (disagreement around the types of variation particularly important for disease); and there was uncertainty about clinically reportable WGS findings (experts disagree on which findings are most meaningful). Two to 6 personal disease-risk findings were discovered in each participant. Physician review of sequencing findings prompted consideration of a median (midpoint) of 1 to 3 initial diagnostic tests and referrals per participant.

The authors write that their clinical experience with this technology illustrates several challenges to clinical adoption of WGS, including that although analytical validity of WGS is improving, technical challenges to sensitive and accurate assessment of individual genetic variation remain. In addition, the human resource needs for full clinical interpretation of WGS data remains considerable, and much uncertainty remains in classification of potentially disease-causing genetic variants.

"These issues should be considered when determining the role of WGS in clinical medicine."

###

See the original post:

Examining potential of clinical applications of whole-genome sequencing

Microarray analysis -- a complex technology commonly used in many applications such as discovering genes, disease diagnosis, drug development and toxicological research -- has just become easier and more user-friendly. A new advanced software program called Eureka-DMA provides a cost-free, graphical interface that allows bioinformaticians and bench-biologists alike to initiate analyses, and to investigate the data produced by microarrays. The program was developed by Ph.D. student Sagi Abelson of the Rappaport Faculty of Medicine at the Technion-Israel Institute of Technology in Haifa, Israel.

DNA microarray analysis, a high-speed method by which the expression of thousands of genes can be analyzed simultaneously, was invented in the late 1980s and developed in the 1990s. Genetic researchers used a glass slide with tiny dots of copies of DNA to test match genes they were trying to identify. Because the array of dots was so small, it was called a "microarray." There is a strong correlation between the field of molecular biology and medical research, and microarray technology is used routinely in the area of cancer research and other epidemiology studies. Many research groups apply it to detect genetic variations between biological samples and information about aberrant gene expression levels can be used in what is called "personalized medicine." This includes customized approaches to medical care, including finding new drugs for gene targets where diseases have genetic causes and potential cures are based on an individual's aberrant gene's signal.

An article written by Abelson published in the current issue of BMC Bioinformatics (2014,15:53) describes the new software tool and provides examples of its uses.

"Eureka-DMA combines simplicity of operation and ease of data management with the rapid execution of multiple task analyses," says Abelson. "This ability can help researchers who have less experience in bioinformatics to transform the high throughput data they generate into meaningful and understandable information."

Eureka-DMA has a distinct advantage over other software programs that only work "behind the scenes" and provide only a final output. It provides users with an understanding of how their actions influence the outcome throughout all the data elucidation steps, keeping them connected to the data, and enabling them to reach optimal conclusions.

"It is very gratifying to see the insightful initiative of Sagi Abelson, a leading 'out-of-the-box' thoughtful Technion doctorate student whom I have had the privilege of supervising," said Prof. Karl Skorecki, the Director of the Rappaport Family Institute for Research in the Medical Sciences at the Technion Faculty of Medicine and Director of Medical and Research Development at the Rambam Health Care Campus. "Over and above his outstanding PhD thesis research project on cancer stem cells, Sagi has developed -- on his own -- a user-friendly computer-based graphical interface for health and biological research studies. Eureka-DMA enables users to easily interpret massive DNA expression data outputs, empowering researchers (and in the future, clinicians) to generate new testable hypotheses with great intuitive ease, and to examine complex genetic expression signatures of genes that provide information relevant to health and disease conditions. This was enabled by combining outstanding insight and expertise in biological and computer sciences, demonstrating the unique multidisciplinary strengths and intellectual freedom that fosters creative innovation at the Technion."

According to Abelson, Eureka-DMA was programmed in MATLAB, a high-level language and interactive environment for numerical computation, visualization, and programming. Advanced users of MATLAB can analyze data, develop algorithms, and create models and applications to explore multiple hypotheses and reach solutions faster than with spreadsheets or traditional software. Eureka-DMA uses many of MATLAB's toolbox features to provide ways to search for enriched pathways and genetic terms and then combines them with other relevant features.

Raw data input is through Windows Excel or text files. This, says Abelson, spares the user from dealing with multiple and less common microarray files received by different manufacturers. Results can then be exported into a 'txt' file format,' or Windows Excel, making Eureka-DMA a unified and flexible platform for microarray data analysis, interpretation and visualization. It can also be used as a fast validation tool for results obtained by different methods.

Eureka-DMA loads and exports genetic data, "normalizes" raw data, filters non-relevant data, and enables pathway enrichment analysis for mapping genes on cellular pathways. The user can browse through the enriched pathways and create an illustration of the pathway with the differentially expressed genes highlighted.

After identifying the differentially expressed genes, biological meaning is ascribed via the software so that the identification of significant co-clustered genes with similar properties -- cellular components, a biological process, or a molecular function -- can be achieved.

Read more here:

Free online software helps speed up genetic discoveries

Contact Information

Available for logged-in reporters only

Newswise (PHILADELPHIA) Researchers at the Scheie Eye Institute, the department of Ophthalmology of the University of Pennsylvania have been awarded a five-year, $11.2 million grant from the National Institutes of Health (NIH) to study the genetic risk factors that make African Americans disproportionately more likely to develop primary open-angle glaucoma (POAG). POAG appears almost ten years earlier and progresses more rapidly in African Americans than among Caucasian individuals, making it the leading cause of irreversible blindness in this population. Approximately two million Americans suffer from this form of glaucoma.

The goal of our study is to identify the genetic and other risk factors that underlie POAG in order to understand this increased burden of disease in African Americans, says Joan OBrien, MD, chair of the department of Ophthalmology in Penns Perelman School of Medicine, director of the Scheie Eye Institute, and primary investigator on the study.

POAG is a group of diseases that cause progressive and irreversible retinal ganglion cell damage, optic nerve degeneration, and corresponding visual field loss. Once a sufficient number of nerve cells are damaged, blind spots begin to form in the patients peripheral field of vision. Even when medical and surgical management are employed, retinal ganglion cell loss can be progressive and irreversible.

We aim to understand more about the disease, its causes, and what makes African Americans more prone to developing POAG at a younger age and experiencing its most severe form, says OBrien. Surprisingly, researchers today still have a poor understanding of what causes POAG, which hinders early identification and focused treatment of the disease.

We know that there is a genetic component to the disease, as family history has a strong influence, says OBrien. The risk of developing POAG increases tenfold when a parent or sibling has the disease, with even larger increases when an identical twin is affected. By dissecting the disease into subtypes (called endophenotyping) and understanding the different genetic underpinnings of the disease, we can begin to develop better, more targeted treatment options.

OBrien will work with Scheie glaucoma specialists, Eydie Miller-Ellis, MD; Prithvi Sankar, MD; and Meredith Regina, MD, PhD, to conduct a comprehensive genetic analysis of POAG in African Americans. Their genome-wide analysis will help identify the biological pathways and networks underlying the disease in 12,766 patients: 4,400 with POAG and 8,365 controls. Additional data will be provided by the Kaiser Permanente Research Program, which received ARRA Stimulus funding to analyze 100,000 genomes, with analysis performed in collaboration with Stanford University. To date, 2,500 Philadelphia-based patients and controls have been enrolled in the study.

Our hypothesis is that genetic variants influence the risk of POAG and the traits related to that risk, such as intraocular pressure and corneal and retinal nerve fiber layer thickness. In addition, we believe that demographic and ocular risk factors, and medical co-morbidities also contribute to the increased risk of POAG in African Americans, says OBrien.

Once these genomes are analyzed in this understudied and over-affected population, the data can be used to create a risk model of POAG in African-Americans, and inexpensively re-analyzed to elucidate the genetics of other diseases that disproportionately affect this population. # # #

Continue reading here:

Scheie Eye Institute at the University of Pennsylvania Awarded NIH Grant to Study the Genetics of Glaucoma in African ...

March 10, 2014

Rebekah Eliason for redOrbit.com Your Universe Online

A study from Northwestern Medicine has led to a new theory regarding the development and cause of endometriosis. The chronically painful disease, which affects 1 in 10 women, has been linked to two previously unstudied genes.

This innovative research regarding endometriosis suggests that an integral part of the disease and its progression is epigenetic modification, which is a process that will either enhance or disrupt the reading of DNA.

Matthew Dyson, research assistant professor of obstetrics and gynecology at Northwestern University Feinberg School of Medicine, along with Serdar Bulun, MD, chair of obstetrics and gynecology at Feinberg and Northwestern Memorial Hospital, were able to recognize a novel role for a family of key gene regulators found in the uterus.

Until now, the scientific community was looking for a genetic mutation to explain endometriosis, said Bulun, a member of the Center for Genetic Medicine and the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. This is the first conclusive demonstration that the disease develops as a result of alterations in the epigenetic landscape and not from classical genetic mutations.

Heather C. Guidone, Surgical Program Director at The Center for Endometriosis Care explains that, Endometriosis results when tissue similar to that which lines the uterus grows in other areas of the body. The persistent survival of these cells results in chronic pelvic pain, organ dysfunction, infertility and more. Although the cause of the disease has remained unknown on a cellular level, there have been several different models established to explain its development.

Since endometriosis is only found in menstruating primates, it is likely that the unique evolution of uterine development and menstruation are connected with the disease. Retrograde menstruation, the movement of cells up the fallopian tubes and into the pelvis, has long been considered by scientists as a probable cause of endometriosis. Since most women experience retrograde menstruation at some point, this model fails to explain why only ten percent of women develop the disease. In addition, this theory is insufficient at explaining instances where endometriosis arises independent of menstruation.

Bulun and Dyson theorize that there is an epigenetic switch that allows the expression of the genetic receptor GATA6 instead of GATA2. This results in progesterone resistance leading to development of the disease.

We believe an overwhelming number of these altered cells reach the lining of the abdominal cavity, survive and grow, Bulun said. These findings could someday lead to the first noninvasive test for endometriosis.

More here:

Endometriosis Cause And Development Linked To Unstudied Genes

London, UK (PRWEB) March 07, 2014

During the last 20 years, the ongoing genetic advances have considerably facilitated the emergence of personalized medicine sector as an important player in the overall healthcare universe. Human genome sequencing has propelled the pharmacogenetics sector. Furthermore, personalized medicine also takes into account pharmacogenomics studies, where protein and genetic interactions yield the potential drug targets. The key objective of personalized medicine is to offer individualized care that is more effective and specific to the potential patients. Targeted and personalized medicine R&D efforts are aimed at increasing the efficiency of the therapeutic area via genetic testing along with companion diagnostics. The introduction of novel personalized medicine will likely reduce the frequency of adverse drug reactions and thus have a significant influence on health economics. Diagnostic and developmental companies are predicted to take benefit from lower discovery and commercialization costs, as well as from more specific market sub-types awaited in the years ahead.

Nodality, Celera, 23andMe, Myriad, Amgen, Atossa Genetics and Affymetrix are among the leading participants in the worldwide market for personalized medicine and companion diagnostic tests.

New research report Personalized Medicine and Companion Diagnostic Market - A Strategic Analysis of Industry Trends, Technologies, Participants, and Environment elaborated by Kelly Scientific Publications is available at MarketPublishers.com.

Report Details:

Title: Personalized Medicine and Companion Diagnostic Market - A Strategic Analysis of Industry Trends, Technologies, Participants, and Environment Published: March, 2014 Pages: 224 Price:US$ 3,835.00 http://marketpublishers.com/report/life_sciences/healthcare/personalized-medicine-n-companion-diagnostic-market.html

A cutting-edge all-round report provides a full detailed coverage of the world personalized medicine and companion diagnostic market as well as tackles the most significant industry related issues. The study presents insights into the historical background of the industry and illustrates the current situation in the market; summarizes the key factors influencing the market growth, and also reviews the major existing personalized medicine and companion diagnostic products and technologies. It traces the most recent important industry developments, identifies and scrutinizes the most prominent market trends, covers the actual scenario in the main geographical markets, investigates the competitive landscape and includes the leading companies profiles. Additionally, the report discusses the markets growth opportunities and grants access to a complete set of projections of the future performance of the personalized medicine and companion diagnostic market through 2017.

Reasons to Buy:

More new research reports by the publisher can be found at Kelly Scientific Publications page.

Go here to see the original:

Personalized Medicine and Companion Diagnostic Market Discussed in New Report by Kelly Scientific Publications ...

It cost over $3 billion and took almost 13 years to sequence the human genome for the first time, a task that was only completed a little over ten years ago.

Instead of our current one-size-fits all treatment for most diseases, many envision a future in which we will be able to tailor medical treatment based on ones underlying genetic information, a medical model known as personalized, or precision, medicine.

To better understand what it will take to reach these aims, which will require further advances in many disciplines and have implications stretching far beyond the field of medicine, University President Lee Bollinger recently announced the creation of a task force on personalized medicine.

When there are major advances in our knowledge that can be translated in very important effects for the world, we want to make sure as the university we are doing everything we can to facilitate that, Bollinger said at last weeks University Senate plenary.

The task force, co-chaired by Provost John Coatsworth and Dean of the Faculties of Health Sciences and Medicine Lee Goldman, brings together almost 40 faculty members across the entire university. Unlike other institutions, including various cancer centers, that are also working in personalized medicine, this task force will use a University-wide approach, rather than just a medical one.

The opportunity is really here now

They have the foresight to realize that this is not just a medical center problem, that this really permeates every different aspect of what we do at Columbia, said Dr. Wendy Chung, director of the Clinical Genetics Program at the Columbia University Medical Center and member of the task force. Its going to be challenging, I think, to get people who speak different languages to come together and to realize what they can contribute but Ive never seen any other initiative where so many people have come together to try and make it work.

Though the task force has yet to meet, it plans to produce a report next fall that outlines what Columbia should do in this emerging field of medicine.

Its almost certainly one of those things that you cant just leave to chance to happen. You have to get organized, you have to get the infrastructure, you have to figure out the kinds of intellectual work that you need to do, Bollinger said.

Personalized medicine will ultimately be the result of a more comprehensive understanding of the genetic underpinnings of disease, but to get to that point, researchers need more data than is currently available.

Continue reading here:

Task force on precision medicine takes interdisciplinary approach

PUBLIC RELEASE DATE:

7-Mar-2014

Contact: Marla Paul marla-paul@northwestern.edu 312-503-8928 Northwestern University

Changes to two previously unstudied genes are the centerpiece of a new theory regarding the cause and development of endometriosis, a chronic and painful disease affecting 1 in 10 women.

The discovery by Northwestern Medicine scientists suggests epigenetic modification, a process that enhances or disrupts how DNA is read, is an integral component of the disease and its progression. Matthew Dyson, research assistant professor of obstetrics and gynecology at Northwestern University Feinberg School of Medicine and and Serdar Bulun, MD, chair of obstetrics and gynecology at Feinberg and Northwestern Memorial Hospital, also identified a novel role for a family of key gene regulators in the uterus.

"Until now, the scientific community was looking for a genetic mutation to explain endometriosis," said Bulun, a member of the Center for Genetic Medicine and the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. "This is the first conclusive demonstration that the disease develops as a result of alterations in the epigenetic landscape and not from classical genetic mutations."

The findings were recently published in PLoS Genetics.

Women develop endometriosis when cells from the lining of the uterus, usually shed during menstruation, grow in other areas of the body. The persistent survival of these cells results in chronic pelvic pain and infertility. Although the cause of the disease has remained unknown on a cellular level, there have been several different models established to explain its development.

Endometriosis only occurs in menstruating primates, suggesting that the unique evolution behind uterine development and menstruation are linked to the disease. Scientists consider retrograde menstruation cells moving up the fallopian tubes and into the pelvis as one probable cause. Previous models, however, have been unable to explain why only 10 percent of women develop the disease when most experience retrograde menstruation at some point. Nor do they explain instances of endometriosis that arise independent of menstruation.

Bulun and Dyson propose that an epigenetic switch permits the expression of the genetic receptor GATA6 rather than GATA2, resulting in progesterone resistance and disease development.

Originally posted here:

New theory on cause of endometriosis

Experts urge transparency and new regulations to protect DNA donors

Flickr/Steve Jurvetson

Linking a human genome in an anonymous sequencing database to its real-world counterpart wasnt supposed to be possible.

Yaniv Erlich, a geneticist at the Massachusetts Institute of Technologys Whitehead Institute for Biomedical Research, apparently never got the memo. In the end all it took him and M.I.T. undergraduate student Melissa Gymrek to decipher the identity of 50 individuals whose DNA is available online in free-access databases was a computer and an Internet connection.

Erlich and Gymrek selected 32 male genomes from the 1000 Genomes Project, which has a publicly accessible database designed to help researchers find genes associated with different human diseases. Next, Erlich and Gymrek used an algorithm to extract genetic markers from the DNA sequences. The algorithm is specially designed to hone in on short tandem repeats on a mans Y chromosome. Y-STRs are passed patrilineally with little to no change from one generation to the next. They provide a way to link an anonymous genome to a particular family surname.

Using meta-data about the anonymous genomes included in the database, the researchers narrowed the field of possible DNA matches down to 10,000 men of a particular age who resided in Utah when they donated their DNA. Erlich and Gymrek then plugged the genomes into two of the Webs most popular genealogy sites, Ysearch and SMGF. These recreational sites provide free access to databases that connect Y-STR markers to surnames. The researchers found that eight of their samples strongly matched the surnames of Mormon families in Utah. Erlich and Gymreks findings were published in the January 17 Science.

The results show that a curious party equipped with open-access information can not only tie a three-billion-digit-long genome directly to an individual, but also can use bits and pieces of that same DNA to identify distant relatives, male or female, of the original genetic donor. If your fourth cousin participated in this database, we could use it to find out about your ancestry, Erlich says.

Whereas privacy concerns about publicly accessible genome data have cropped up in the past with genealogy databases, this is the first time that anyone has connected an anonymous DNA sequence to its donor without donor DNA as a reference.

Genome mining could have serious consequences for DNA donors. Under federal law health insurance companies cannot use genetic data, but there is currently nothing barring companies from using a persons genome to define life insurance policies or determine long-term disability care. The new research prompted the National Institutes of Health (NIH) to hide peoples ages from federally funded genetic databases such as the 1000 Genomes Project that allow open access to scientists.

Yet the NIHs strategy may be missing the point, says Lawrence Gostin, a professor of medicine at Georgetown University and director of the World Health Organizations Collaborating Center on Public Health Law and Human Rights. This is not a long-term solution to the problem because in reality there is nothing more personally identifiable than your genome, he says.

See more here:

A Hacked Database Prompts Debate about Genetic Privacy

Irvine, CA (PRWEB) March 06, 2014

Proove Biosciences, the leader Personalized Pain Medicine testing services, will participate and present clinical data and research at the American Academy of Pain Medicines 30th annual meeting this weekend, March 6-9, 2014. The meeting provides a comprehensive overview and review of current and cutting-edge pain medicine practice topics.

AAPM President and Proove Medical Advisory Board Member, Dr. Lynn Webster, will be moderating a workshop on safe opioid prescribing practices. The program will educate prescribers about eight evidence-based principles that will drastically reduce the number of unintentional overdose deaths from prescription medication.

"We are thrilled to be a part of the AAPMs Annual Meeting. As the premiere industry forum, we are excited to share and present our clinical data on how our Proove Genetic tests have been helping pain medicine professionals throughout the country improve the selection, dosing, and evaluation of medications. We will exhibit how Proove helps identify patients at risk for tolerance and misuse of medications, and how we have been creating efficiency within the healthcare system, while improving safety and decreasing risks associated with pain medicine therapies," stated Brian Meshkin, President of Proove Biosciences.

Proove will again be the only company presenting data on the genetics of pain medicine. During the poster session, Proove will be presenting data correlating genetic variations with co-occurring psychiatric disorders among chronic pain patients taking narcotics.

About the American Academy of Pain Medicine

The American Academy of Pain Medicine (AAPM) is the medical specialty society representing physicians practicing in the field of pain medicine. As a medical specialty society, the Academy is involved in education, training, advocacy, and research in the specialty of pain medicine.

About Proove Biosciences

Proove Biosciences is the leading Personalized Pain Medicine laboratory that provides proprietary genetic testing services to help physicians improve outcomes for patients and contain costs for insurers. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve pain medicine selection, dosing, and evaluation of medications they prescribe. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proovebio.com or call toll free 855-PROOVE-BIO (855-776-6832).

Read the original post:

Proove Biosciences Will Present Clinical Research and Data at the American Academy of Pain Medicines 30th Annual ...

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism

Cancer.gov

Reprinted with permission fromSFARI.org, an editorially independent division of The Simons Foundation. (Find original story here.)

Over the past few years, teams of scientists have been finding genetic glitches related to a wide variety of disorders by sequencing exomes, the protein-coding portions of the genome. But these genetic tests are typically out of reach for people unless they enroll in research studies, and even then, theyre almost never privy to their individual results.

But that looks set to change: A few clinics are debuting large programs that rely on sequencing of exomes or even of whole genomes, and making the results directly available to individuals. For less than $10,000 each, the tests offer people with unexplained genetic disorders the chance to find the cause of their condition.

The first academic lab to offer clinical exome sequencing was the Whole Genome Laboratory at Baylor College of Medicine in Houston. Since November 2011, the lab has sequenced the exomes of some 1,700 individuals with undiagnosed conditions, including many children with developmental disorders. It now averages about 200 exomes a month.

"It's gone gangbusters," says Richard Gibbs, director of Baylor's Human Genome Sequencing Center, which helped establish the new lab. The researchers have pinpointed the genetic cause of about one-quarter of the 1,700 cases as mutations in known disease genes, he says.

Last week, the Harvard-affiliated Partners Healthcare Center in Boston launched a similar lab focused on sequencing whole genomes. And two private companies Ambry Genetics in Aliso Viejo, California, and GeneDx in Gaithersburg, Maryland have offered clinical exome sequencing since 2011.

Deciding which parts of the sequencing data should be divulged to individuals is far from straightforward. A few mutations are clearly associated with disease, but most are still tricky to interpret.

From a research perspective, however, the development is unequivocally exciting, experts say.

Original post:

Clinics Offer Expensive Whole-Genome Tests for Undiagnosed Disorders

A genetic mutation provides a clue to Hugh Rienhoff's daughter's undefined syndrome

Colston Rienhoff

Hugh Rienhoff says that his nine-year-old daughter, Bea, is a fire cracker, a tomboy and a very sassy, impudent girl. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Beas birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughters condition might come with serious heart problems.

Rienhoff, a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis. He bought lab equipment so that he could study his daughters DNA himself and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease (see Nature 449, 773776; 2007).

Talk about personal genomics, says GarySchroth, a research and development director at the genome-sequencing company Illumina in San Diego, California, who has helped Rienhoff in his search for clues. It doesnt get any more personal than trying to figure out whats wrong with your own kid.

Now nearly a decade into his quest, Rienhoff has arrived at an answer. Through the partial-genome sequencing of his entire family, he and a group of collaborators have found a mutation in the gene that encodes transforming growth factor-3 (TGF-3). Genes in the TGF- pathway control embryogenesis, cell differentiation and cell death, and mutations in several related genes have been associated with Marfan syndrome and LoeysDietz syndrome, both of which have symptomatic overlap with Beas condition. The mutation, which has not been connected to any disease before, seems to be responsible for Beas clinical features, according to a paper to be published in the American Journal of Medical Genetics.

Hal Dietz, a clinician at Johns Hopkins University School of Medicine in Baltimore, Maryland, where Rienhoff trained as a geneticist, isnt surprised that the genetic culprit is in this pathway. The overwhelming early hypothesis was that this was related, says Dietz, who co-discovered LoeysDietz syndrome in 2005.

Rienhoff had long been tapping experts such as Dietz for assistance. In 2005, an examination at Johns Hopkins revealed Beas bifid uvula. This feature, combined with others, suggested LoeysDietz syndrome, which is caused by mutations in TGF- receptors. But physicians found none of the known mutations after sequencing these genes individually. This was a relief: LoeysDietz is associated with devastating cardiovascular complications and an average life span of 26 years.

In 2008, Jay Flatley, chief executive of Illumina, offered Rienhoff the chance to sequence Beas transcriptome all of the RNA expressed by a sample of her cells along with those of her parents and her two brothers. After drilling into the data, Rienhoff and his collaborators found that Bea had inherited from each parent a defective-looking copy of CPNE1, a poorly studied gene that seems to encode a membrane protein. It looked like the answer.

But questions remained. The gene did not have obvious connections to Beas features, and publicly available genome data suggests that the CPNE1 mutations are present in about 1in1,000people an indication that there should be many more people like Bea.

Read the rest here:

A Father's Genetic Quest Pays Off

PUBLIC RELEASE DATE:

5-Mar-2014

Contact: Shawna Williams shawna@jhmi.edu 410-955-8632 Johns Hopkins Medicine

Johns Hopkins researchers say they have found one way that a recently discovered genetic mutation might cause two nasty nervous system diseases. While the affected gene may build up toxic RNA and not make enough protein, the researchers report, the root of the problem seems to be snarls of defective genetic material created at the mutation site.

The research team, led by Jiou Wang, Ph.D., an assistant professor of biochemistry and molecular biology and neuroscience at the Johns Hopkins University School of Medicine, reports its finding March 5 on the journal Nature's website.

Two years ago, researchers linked the gene C9orf72, named for its location on the ninth human chromosome, to amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, and to frontotemporal dementia (FTD).

In ALS, motor neurons nerve cells that carry messages from the brain to muscles degenerate and eventually die, which gradually paralyzes the patient. In FTD, neurons in the frontal and temporal lobes of the brain die. Some scientists think the same genetic and biological processes cause both disorders, but with very different symptoms, depending on where in the brain they occur.

The mutation in C9orf72 is called a hexanucleotide repeat expansion, a six-letter "word" of DNA repeated over and over, in a part of the gene that doesn't contain instructions for making any proteins. Although it's normal to have up to 20 such repeats, some people with ALS or FTD have dozens or even hundreds of them. Studies show the mutation is likely responsible for 4 to 8 percent of cases of sporadic ALS the kind that isn't necessarily hereditary and, in some groups, up to 40 percent of the kind that is.

To learn how the repeated sequence causes disease, the Johns Hopkins scientists looked at the structure of the DNA that makes up the gene and the RNA that carries its instructions. Although DNA and RNA are generally seen as long strands, they can bunch and curl to make 3-D structures.

Working with DNA and RNA they made that bore the six-letter "word" repeat, the researchers figured out that both were forming structures called G-quadruplexes. In these formations, guanines called "G" for short, one of the letters in the repeating DNA "word" link up, making stacks that stick together like tiny shelves. The RNA also forms other shapes in the repeating section hairpins and bulges. The researchers speculate that the G-quadruplexes and other structures might be getting in the way of the nucleic acids' normal functions.

Read more:

ALS-linked gene causes disease by changing genetic material's shape

(PRWEB) March 05, 2014

In Latin America, Mexico is the pioneer in genetic test applications. Personalized medicine has only been around for the last 15 years. The ALAMPs intention with personalized medicines was to decrease and identify the predisposition of diseases, and to increase the success rate of therapy.

A list of international and national guests gathered at this ALAMP sponsored event. Attendees included Stefan Long, director of the science department at General Genetics Corporation, the number one laboratory in the study of ADN in the world; Dr Felipe Vzquez Estupin, specialist in family therapy; and Dr. Bernard Esquivel, president of ALAMP, who discussed the transition that personalized medicine proposes for healthy and sick individuals, as well as for health systems, through the integration of personalized medicine into clinical practice of genetic examinations that strengthen such care.

The first international symposium of personalized medicine was directed at any health professional that wanted to incorporate their field in the diverse areas of personalized medicine. This included establishment of the protocols of prevention, follow up and monitoring to the development of specific adequate treatments, and the genetic characteristics of each individual.

As defined by the Presidents Council of Advisors of Science and Technology, personalized medicine discerns if the processes that apply to a patient, or a to a group of patients, are appropriate from view point of the proposed strategies as the response to a specific medicine will be different from the present responses of a patient affected by the same condition. This has allowed, and will continue to allow, the introduction of predictors of any disease, whether it be the presence of mutations of oncogenes, or of regular tumor genes.

This algorithm explains the vision of Mexico for personalized medicine: based on the molecular profile of the patient (his genome), regardless of his age, it identifies the susceptibility of various conditions to develop in the patient. Subsequently they establish educational mechanisms/institutions like nutrition (Nutrigenomics; the individualization of micro-macro nutrients according to the metabolic level expressed by the genes), habits, etc., with the intention of preventing the onset of the disease. Since we are not aware of all the environmental factors that trigger diseases, there is always the possibility of more developing factors. Therefore, it is very important to establish a customized program aimed at the early detection of such pathogens. If one detects many diseases in their initial stage (among these are many types of cancer), one can implement appropriate therapeutic measures that eradicate these diseases or control them quickly, preventing further damage and degeneration of the patient (which is the case in non-communicable chronic diseases, or diabetes).

The first international symposium of personalized medicine addressed issues in various areas of genetic medicine, and addressed the steps that Mexico is taking as the pioneer in its application of personalized medicine in Latin America. As a country, Mexico hopes to reduce the unfavorable economic impact of the 25 chronic-degenerative prevalent diseases in the next 20 years by applying immediate preventive measures through a simple genetic test. The proposed test would cost $420 dollars, which will allow saving on treatment costs. Currently, there are 12.8 million future diabetics that could spend up to $448,000 if they dont detect their disease earlier.

For example, as we know, type 2 diabetes mellitus is one of the major causes of death in Mexico and has a pre-pathogenic period (before it appears, which highlights the genetic susceptibility), and a pathogenic period (with the onset of the disease) stage that doesnt present symptoms. Approximately two years later after the onset of the disease, a large number of the patients are not yet diagnosed, until they have an acute complication, i.e., with the hospital emergency room.

Applying the proposed model of personalized medicine to these patients may:

A)Delay the onset of the diseases by many years, which allows for a better quality of life for the patient and a very important economic savings cost for his or her social security.

Read the rest here:

Personalized Medicine: The New Paradigm in the Prevention and Treatment of Diseases

New tests could spare soldiers from debilitating sickness at high altitudes--and mitigate cattle deaths in the Rockies

Chris 73, Wikimedia Commons

On his 27th birthday, David Hillebrandt and his wife Sally began to climb Mount Kenya, the second-highest mountain in Africa after Kilimanjaro. Instead of gearing up and heading straight for the mountain's tallest peakwhich reaches 5,199 metersthe couple started their journey more leisurely, trekking through scenic ridges and valleys around the mountain at an altitude of about 3,000 meters.

David, who today serves as a medical advisor to the British Mountaineering Council, already had considerable climbing experience at the time: he had scaled a 5,790-meter peak in Pakistan and 3,960-meter peaks in the European Alps. Sally, in contrast, had never done any serious climbing and did not consider herself a mountaineer.

But Sally wasn't the one who needed to stop and turn around.

"I am meant to be this tough, rugged mountaineer," David says, "and I celebrated my birthday by throwing up all over the place." Plagued by a throbbing headache and relentless nausea, David retreated to lower ground. He knew from previous climbs that he was prone to altitude sickness, but he thought circling the mountain at 3,000 meters would be a good way to acclimatize. This time it didn't do the trick. Even though she was a far less experienced climber, Sally adjusted to the altitude much faster.

It wasn't experience that made the differenceit was genetics. Scientists have known for a while that some people are inherently more susceptible to altitude sickness than othersand that this susceptibility is heritablebut only now are they on the trail of the culprit genes. Preliminary studies suggest that a group of six genes predicts who will get altitude sickness with greater than 90 percent accuracy. Such a precise genetic test would greatly benefit the military, which currently has no way of predicting which soldiers will fall ill when flown to high altitudes and would rather not waste money on expensive acclimatization drugs. In a parallel research effort, scientists have been searching for the genes that determine which cows develop altitude sickness, also known as brisket disease, when they graze in the Rocky Mountains. Because tens of thousands of cows die in the western U.S. from brisket disease annually, ranchers would like nothing more than to strip the responsible genes from the breeding population.

Written in blood The pursuit of a genetic test for altitude sickness began in earnest a few years ago in Robert Roach's laboratory at the University of Colorado. In 2010, 28 people in Roach's lab ascended to an altitude of 4,875 meters without ever leaving the ground. Roach placed his volunteers in a large metal box called a hypobaric chamber and gradually sucked out air with a vacuum pump, reducing atmospheric pressure to mimic a high altitude, low-oxygen environment. Roach purposefully recruited a mixture of people who were susceptible to altitude sickness and people who had never had problems in high climes. As expected, about half of the 28 volunteers felt sick in the chamber, whereas the others felt fine.

Roach took samples of his volunteers' blood, isolated their DNA and programmed a computer to search for genetic differences between the people who got sick and those who didn't mind hanging out in thin air. The program identified six genes that are expressed at unusually high or low levels in people who felt sick; some of the genes are linked to oxygen transport. Looking at the expression levels of those six genes alone was enough to distinguish people who became ill from those who did not with about 95 percent accuracy.

The following year, Roach collaborated with Benjamin Levine of the University of Texas Southwestern Medical Center to try the rudimentary genetic test on a larger group of volunteers. This time, instead of bringing the mountain to his lab, Roach decided to move his lab to the mountain.

More here:

Mountain Maladies: Genetic Screening Susses Out Susceptibility to Altitude Sickness

PUBLIC RELEASE DATE:

4-Mar-2014

Contact: John Ascenzi ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia

Two recent genetic studies expand the list of genes involved with body fat and body mass index, and their connection to major Western health problems: heart disease, high blood pressure and diabetes. One study showed that higher body mass index (BMI) caused harmful effects on the risk of type 2 diabetes, high blood pressure and inflammation, while another study found gene signals linked to higher levels of body fat metrics, without showing causality.

"These findings are highly relevant to the obesity pandemic in the United States and many other countries," said geneticist Brendan J. Keating, D. Phil., of the Center for Applied Genomics at The Children's Hospital of Philadelphia. "Of course, much research remains to be performed to discover further genes involved in these complex metabolic diseases, and to better understand how to improve treatments."

Keating, who previously helped create a large gene-discovery tool called the Cardio Chip, was a co-leader of both studies, which drew on large international teams of scientists using DNA, laboratory and disease data from tens of thousands of people.

In the BMI research, published in the Feb. 6 issue of the American Journal of Human Genetics, Keating collaborated with clinical epidemiologist Michael V. Holmes, M.D., Ph.D., of the Perelman School of Medicine at the University of Pennsylvania. That study used a recently developed epidemiology tool called Mendelian randomization (MR) that rules out confounding factors such as behavioral and environmental influences to construct genetic risk scores for specific traits of interest.

The study team analyzed eight population cohorts including over 34,000 individuals of European descent, of whom over 4,400 had type 2 diabetes, over 6,000 had coronary heart disease and over 3,800 had a previous stroke.

Their analysis, concluded the authors, supports the importance of BMI in regulating cardiometabolic traits and the risk of type 2 diabetes. "Our findings suggest that lowering BMI is likely to result in multiple reductions of cardiovascular traits: in blood pressure, inflammation, fasting glucose and insulin, and in the risk of type 2 diabetes," said Keating.

"This study is the first to use this emerging MR technique with a combination of genetic markers known to impact BMI, to assess the causal relationship of BMI and a comprehensive repertoire of traits," said Holmes. He added that, although the study showed that increasing BMI has an undesirable effect on cardiometabolic factors, interestingly, it did not show that higher BMI increased the risk of coronary heart disease.

See the rest here:

CHOP researcher finds more genetic signals linking weight and heart health risk factors

Contact Information

Available for logged-in reporters only

Newswise Philadelphia, March 4, 2014 Two recent genetic studies expand the list of genes involved with body fat and body mass index, and their connection to major Western health problems: heart disease, high blood pressure and diabetes. One study showed that higher body mass index (BMI) caused harmful effects on the risk of type 2 diabetes, high blood pressure and inflammation, while another study found gene signals linked to higher levels of body fat metrics, without showing causality.

These findings are highly relevant to the obesity pandemic in the United States and many other countries, said geneticist Brendan J. Keating, D. Phil., of the Center for Applied Genomics at The Childrens Hospital of Philadelphia. Of course, much research remains to be performed to discover further genes involved in these complex metabolic diseases, and to better understand how to improve treatments.

Keating, who previously helped create a large gene-discovery tool called the Cardio Chip, was a co-leader of both studies, which drew on large international teams of scientists using DNA, laboratory and disease data from tens of thousands of people.

In the BMI research, published in the Feb. 6 issue of the American Journal of Human Genetics, Keating collaborated with clinical epidemiologist Michael V. Holmes, M.D., Ph.D., of the Perelman School of Medicine at the University of Pennsylvania. That study used a recently developed epidemiology tool called Mendelian randomization (MR) that rules out confounding factors such as behavioral and environmental influences to construct genetic risk scores for specific traits of interest.

The study team analyzed eight population cohorts including over 34,000 individuals of European descent, of whom over 4,400 had type 2 diabetes, over 6,000 had coronary heart disease and over 3,800 had a previous stroke.

Their analysis, concluded the authors, supports the importance of BMI in regulating cardiometabolic traits and the risk of type 2 diabetes. Our findings suggest that lowering BMI is likely to result in multiple reductions of cardiovascular traits: in blood pressure, inflammation, fasting glucose and insulin, and in the risk of type 2 diabetes, said Keating.

This study is the first to use this emerging MR technique with a combination of genetic markers known to impact BMI, to assess the causal relationship of BMI and a comprehensive repertoire of traits, said Holmes. He added that, although the study showed that increasing BMI has an undesirable effect on cardiometabolic factors, interestingly, it did not show that higher BMI increased the risk of coronary heart disease.

Keating also co-led a second study, published Jan. 6 in Human Molecular Genetics, analyzing genes associated with central adiposity. Measures of central adiposity, or body fat, can be derived using waist circumference and waist-to-hip ratio. For assessing the influence of weight-related genes, central adiposity is preferable to BMI, because BMI also reflects the influence of genes affecting height, said Keating.

Read the original:

Researcher Finds More Genetic Signals Linking Weight and Risk Factors in Heart Health

FORTUNE --FirstMark Capital is known for investing in consumer-facing software companies like Pinterest, Riot Games, and Aereo, as well as enterprise deals. But since Matt Turck, a former investor with Bloomberg Ventures, joined the firm one year ago, he's been looking at deals that are more out-there, related to big data and the Internet of Things. Take, for example, his latest investment: Recombine, a bioinformatics company.

Alongside new early-stage firm Vast Ventures, FirstMark has invested $3.3 million in the New York-based startup. Angel investors who participated in the round include Vivek Garipalli, formerly of Blackstone Group (BX), as well as Alexander Saint-Amand, President and CEO of Gerson Lehrman Group, and Zach Weinberg and Nat Turner, who co-founded health care startup Flatiron Health.

Currently, Recombine provides clinical genetic testing services which are faster and cheaper than those offered by LabCo Diagnostic Network and Quest Diagnostics (DGX), the incumbent providers. Those companies' technology, much of which was created in the 1970s, requires a separate test (and separate blood samples) to test for each individual disease, and it costs up to $1,000 for each test. Recombine tests for 213 genetic disorders at once, costing $500 before insurance.

MORE:Apple's CFO says see you in Sept., after 100,000 shares vest

Recombine CEO Alexander Bisignano says the incumbent services use older technology and aren't incentivized to upgrade because they have exclusive contracts with insurance companies. "It is sort of a monopoly," he says. Recombine's services are in use at 60 different medical practices.

But disrupting the medical lab industry is not Recombine's ultimate goal. The company has its sights on something it believes is much more lucrative: big data for genetics. That's where Recombine fits into FirstMark's investment thesis. More than a biotech company, it's a big data company, Turck argues. From his blog post Tuesday:

Recombine has ambitious plans to fully leverage Big Data technology to help decode the myriad aspects of our genome that are still not well understood.

Naturally, Bisignano agrees. "Genetics is entering a future where it is nothing but a data science," he says.

By processing all of the data from its tests, Recombine can glean insights about genes and diseases. The data is anonymous, and Recombine has already obtained Institutional Review Board (IRB) approval to conduct its first large-scale study. "We're getting really high-quality medical data that allows us to be more confident that the signal is outweighing the noise in our results," Bisignano says.

See more here:

Genetic testing company Recombine raises $3.3 million

PHILADELPHIA Using new genetic evidence, an international team of scientists led by experts at the Perelman School of Medicine at the University of Pennsylvania and Childrens Hospital of Philadelphia has found that an increased body mass index (BMI) raised the risk for both type 2 diabetes and higher blood pressure. The results add to mounting evidence about the risks of obesity and are of major importance for the obesity pandemic that is affecting the United States where two-thirds of adults are overweight or obese and other countries. According to the findings, published online in The American Journal of Human Genetics, for every 1 kg/m2 increase in BMI equivalent to a 196-pound, 40-year old man of average height gaining seven pounds the risk of developing type 2 diabetes increases by 27 percent. The same rise in BMI also increases blood pressure by 0.7 mmHg.

Our findings provide solid genetic support indicating that a higher body mass index causes a raised risk of type 2 diabetes and high blood pressure, said the studys lead author, Michael V. Holmes, MD, PhD, research assistant professor of Surgery in the division of Transplant at Penn Medicine.

In the new study, the research team used a recently developed statistical tool called Mendelian randomization (MR), which helps researchers identify genes responsible for particular diseases or conditions (such as obesity), independent of potentially confounding factors such as differences in behavior and lifestyle, which can lead to false-positive associations. In this case, the use of MR virtually rules out the possibility that both a high BMI and type 2 diabetes are caused by a third, unidentified factor.

Whether high BMI raises the risk of adverse outcomes is of critical importance given that BMI is modifiable, said Holmes. Now that we know high BMI is indeed a direct cause of type 2 diabetes, we can reinforce to patients the importance of maintaining body mass within established benchmarks.

Results of the new study were based on the assessment of the genotypes for over 34,500 patients from previous studies. In addition to the results on diabetes and blood pressure, Holmes and his colleagues found that an elevated BMI has potentially harmful effects on several blood markers of inflammation. While this could be tied to increased risk for coronary heart disease, the researchers suggest it requires further study.

While this study has strong foundations and implications, there are many more BMI signals emerging, said senior author Brendan Keating, PhD, research assistant professor of Pediatrics and Surgery at Penn Medicine and lead clinical data analyst in the Center for Applied Genomics at The Childrens Hospital of Philadelphia. Future research will likely generate even more useful information about genetics and the associated risks for disease for both physicians and patients.

###

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nation's first medical school) and theUniversity of Pennsylvania Health System, which together form a $4.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 16 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $398 million awarded in the 2012 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals byU.S. News & World Report; Penn Presbyterian Medical Center; Chester County Hospital; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Originally posted here:

Penn Study Results Confirm BMI is a Direct Cause of Type 2 Diabetes and High Blood Pressure