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Penn Medicine Co-Leads $12 M NIH Grant to Study Genetics of Mental Illnesses in Deletion Syndrome Patients

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Newswise PHILADELPHIAA major international consortium co-led by Penn Medicine has received a $12 million National Institute of Mental Health (NIHM) grant for a large-scale genetics study investigating why patients with chromosome 22q11.2 deletion syndrome have an increased risk of schizophrenia and other psychiatric disorders.

Co-directed by Raquel E. Gur, MD, PhD, director of the Neuropsychiatry Program at the Perelman School of Medicine at the University of Pennsylvania, the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome brings together top researchers and clinicians from 22 institutions, including Penn Medicine and The Childrens Hospital of Philadelphia, and five genotyping sites, across North America, Europe, Australia and South America.

With the four-year grant from the NIMH, part of the National Institutes of Health, the Consortium will study the genetic causes behind the high rates of schizophrenia and other psychiatric disorders in those with deletion syndrome, a multisystem disorder that includes birth defects and developmental and behavioral differences across the life span. Such findings may also help identify pathways leading to schizophrenia in the general population in a way that will inform new treatments.

The funding from the NIH will provide us with the opportunity to advance the understanding of this under-recognized neurogenetic condition, said Gur. The knowledge generated can provide a window to the brain that will benefit millions throughout the world.

Co-directing the overall consortium with Gur is Donna McDonald-McGinn, M.S., CGC, program director of the 22q and You Center at CHOP. McDonald-McGinn and Gur, who frequently collaborate on chromosome 22q research, are the principal investigators of the projects sites at their respective institutions.

Found in approximately 1 in 4,000 live births, 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body, including heart abnormalities that often require surgery in the newborn period, an opening in the roof of the mouth, trouble fighting infection due to a poorly functioning immune system, seizures due to low calcium, and significant feeding and swallowing issues. In contrast, some individuals with the 22q11.2 deletion have none of these medical issues. However, most children have developmental delays including delayed acquisition of motor milestones, learning disabilities, and significant delays in emergence of language. Moreover, some children have autistic spectrum disorder, ADHD and anxiety.

When entering adolescence or young adulthood, approximately 25 to 30 percent of patients are at risk of developing schizophrenia, much higher than the one percent rate in the general population.

The Consortium sites have extensive experience in applying integrative genomic and brain-behavior strategies to study individuals with deletion syndrome and schizophrenia, and together have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome, the largest such available sample to date.

The project is an unprecedented international initiative to examine a common deletion associated with schizophrenia and elucidate its genomic and behavioral substrates, said Gur.

CHOPs McDonald-McGinn added: Not only does this successful application demonstrate the genuine commitment on the part of the National Institute of Mental Health to better understand the brain and psychiatric illness, but it highlights the need for such international collaborations. In this instance, 22 clinical and 5 basic science collaborating sites, all with extremely dedicated clinicians and researchers who have overcome the challenges of differing cultures, languages, time zones, and healthcare systems, are working toward the common goal of improving patient care and long term outcome.

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Penn Medicine Co-Leads $12 M NIH Grant to Study Genetics of Mental Illnesses in Deletion Syndrome Patients

Research and Markets: European Nuclear Medicine/Radiopharmaceuticals & Stable Isotopes Market Report 2013-2017

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/fh46g5/european_nuclear) has announced the addition of the "European Nuclear Medicine/Radiopharmaceuticals & Stable Isotopes Market Report 2013-2017" report to their offering.

The European stable isotopes market was valued at close to $25.0 million in 2012, and is estimated to grow at a CAGR of more than 8.0% by 2017.

The stable isotopes market was led by two players - Cambridge Isotope Laboratories (CIL) and Sigma Aldrich - in 2012; they jointly contributed more than 50% to the European revenue.

Radiopharmaceuticals are drugs that contain radionuclide-emitting ionizing radiation and are used for disease diagnosis and treatment. They provide better understanding of diseases as they not only give anatomical but also functional information about the organ. Radiopharmaceuticals are also used in the nuclear imaging field as tracers. They are mostly used for diagnosis with the use of gamma cameras for imaging techniques such as in SPECT and PET. Radioisotopes are majorly used in medical applications with more than 90% share. The medical application is being driven by the increasing patient population and new and effective radioisotopes. The most commonly used isotopes for diagnosis are Tc-99m and Tl-201 for SPECT and F-18 for PET.

The radiopharmaceuticals market is broadly classified into two segments, namely, diagnostic and therapeutic; the former dominated with about 83% share in 2012. Radioisotopes in the diagnostic market are categorized as SPECT and PET. Technetium 99m (Tc-99m) dominated the SPECT radioisotope market in 2012, followed by thallium-201(Tl-201), gallium-67 (Ga-67) and iodine-123 (I-123). SPECT is majorly used in the diagnosis of cardiac diseases; it is poised to grow at a CAGR of about 7.0% from 2012 to 2017. The PET radioisotopes market is majorly dominated by fluorine-18 (F-18).

Segments in the therapeutic market include beta emitters, brachytherapy isotopes, and alpha emitters. Quantitative information about alpha emitters is not conclusive, as they have not been commercialized; recent clinical studies have, however, showcased immense potential of alpha isotopes in therapies. Beta emitters contribute the highest to the therapy market, dominated by iodine-131(I-153), which is poised to grow at a CAGR of 4.5% from 2012 to 2017. The market is driven by its applications for thyroid cancer, hyperthyroidism, and non-Hodgkin's lymphoma. Significant isotopes in the brachytherapy market are cesium-131(Cs-131), iodine-125 (I-125), palladium-103 (Pd-103), and iridium-192 (Ir-192). Germany is the major market for brachytherapy in terms of market share, followed by France.

The therapy market is predominantly driven by its oncologic applications. Since conventional treatment procedures of cancer, surgery and chemotherapy have significant side effects, radioisotopes are being preferred by medical practitioners due to minimum or no side effects. The radiopharmaceutical therapy market is expected to grow significantly with the launch of the much-desired Alpharadin (Ra-223) in the near future. This isotope has tremendous potential to take up market share of beta emitters and brachytherapy.

Germany accounted for the largest market share of the European nuclear medicine market, followed by France in 2012. Major players in the radiopharmaceuticals market are Covidien, Plc, GE Healthcare, IBA Group, Lantheus Medical Imaging, Inc., Nordion, Inc., and Siemens Healthcare (PETNET).

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Research and Markets: European Nuclear Medicine/Radiopharmaceuticals & Stable Isotopes Market Report 2013-2017

Personalized Medicine Roadmap: Definiens Releases Five Steps to Utilize Data Mining with Image Analysis

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MUNICH & CARLSBAD, Calif.--(BUSINESS WIRE)--

Definiens, a healthcare company that advances personalized medicine through image analysis and digital pathology solutions, today released tips for integrating data mining with image analysis. As pathologists, researchers and clinicians seek to advance personalized medicine through the development and prescription of targeted therapies, data generated through image analysis of digitized tissue sections is becoming essential to stratifying patients and providing personalized care.

With the increasing prevalence and need for personalized medicine, the importance of tissue datafication through image analysis is becoming ever more present. While genomic data is highly valuable, it will be the correlation of genomics and tissue phenomics with patient outcomes that brings a level of accuracy to diagnosis, prognosis, and therapy that cant be met with genomic data alone, says Thomas Heydler, CEO of Definiens.

Definiens five steps for researchers and clinicians to effectively utilize data mining with tissue image analysis include:

For more information on Definiens, visit http://www.Definiens.com.

About Definiens

Definiens is the leading provider of image analysis and data mining solutions for life science, tissue diagnostics, and clinical digital pathology. Definiens' technology provides detailed biomarker readouts from whole slide images and enables the correlation of this information with other key clinical or genomic data. Definiens helps pharmaceutical and biotechnology companies, research institutions, clinical service organizations and pathologists to generate new knowledge and support better decisions in research, diagnostics and therapy.

Definiens vision is to open new fields of research, to contribute to development of personalized medicine, and to significantly improve the quality of patients' lives. Definiens is headquartered in Munich, Germany and has its North American headquarters in Carlsbad, CA. Further information is available at http://www.definiens.com.

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Personalized Medicine Roadmap: Definiens Releases Five Steps to Utilize Data Mining with Image Analysis

Strata Rx 2013: August Calhoun, "Healthcare Analytics in the Age of Personalized Medicine" – Video

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Strata Rx 2013: August Calhoun, "Healthcare Analytics in the Age of Personalized Medicine"
For more information, visit: http://strataconf.com/rx Strata Rx 2013: August Calhoun, "Healthcare Analytics in the Age of Personalized Medicine"

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Strata Rx 2013: August Calhoun, "Healthcare Analytics in the Age of Personalized Medicine" - Video

Advanced Practice Strategies Begins Testing GNOSIS(TM) for Emergency Medicine

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BOSTON, MA--(Marketwired - October 01, 2013) - Advanced Practice Strategies (APS) today announced it has begun alpha testing its latest product, GNOSIS for Emergency Medicine (EM). This marks the second clinical area for GNOSIS, currently deployed nationwide in the area of obstetrics (GNOSIS for Obstetrics) by leading hospitals, health systems, and medical liability insurers. Emergency medicine was selected because it is a high risk area -- one hundred thirty million Americans visit the Emergency Department (ED) each year1 and four of every 100,000 visits results in a medical malpractice allegation.2

GNOSIS is a mobile, cloud-based platform that assesses clinician proficiency and rapidly improves performance. It is a data-driven virtual coach that identifies areas for knowledge and judgment improvement, weights them by error risk, maps out personalized content delivered in 2-5 minute segments, and delivers an administrative dashboard with analytics on performance that were never before possible at the clinician, institution, and system-wide levels. GNOSIS for EM also identifies and addresses clinical bias, such as anchoring or diagnosis momentum.

"Diagnostic errors are the most common reason for malpractice claims in the ED," said APS Chief Medical Officer Robert Ashton, MD. "Nearly half of all ED malpractice cases allege a failure to diagnose. While the greatest costs are human life and suffering, financial costs for individuals and institutions are staggering. GNOSIS aims to identify clinical risk before error occurs and accelerates high reliability in healthcare delivery."

GNOSIS for EM covers three practice areas: Effective Communication in the ED, Diagnosis of Chest Pain, and Diagnosis of Abdominal and Pelvic Pain. Abdominal and chest pain are the top two reasons for ED visits3 and gaps in communication are widely acknowledged as a driver of clinical risk, particularly in the chaotic ED environment. In fact, one in three ED malpractice cases includes breakdowns in communication.

Each practice area in GNOSIS for EM will take the user through a short proficiency assessment measuring knowledge and judgment, including bias, and then provide personalized content across five critical learning objectives. Content includes core concepts, case examples, expert commentary, and learning tools so users can connect what they learn back to the actual clinical environment.

About Advanced Practice Strategies:Advanced Practice Strategies (APS) is eliminating risk and reducing healthcare costs by fundamentally restructuring lifelong clinical education. Using a data-driven approach, APS is objectively assessing clinician knowledge and judgment, quantifying resulting risk, and reducing that risk through personalized education. The company's newest innovation, GNOSIS, is a groundbreaking mobile, cloud-based tool that saves clinician learning time, rapidly improves performance, reduces medical malpractice risk, and increases patient safety, all while ensuring administrators are equipped with a transparent performance dashboard at the clinician, organization, and system-wide levels. GNOSIS redefines continuing clinical education while addressing healthcare quality, costs, and satisfaction in today's accountable medical world. Grounded in the rich experience of its Demonstrative Evidence Group, that uses visual strategy to educate juries in complex medical malpractice cases, APS has amassed a wealth of knowledge on risk in medicine and has become the leader in improving lifelong clinician learning. For more information, please visit http://www.aps-web.com.

1 National Hospital Ambulatory Medical Care Survey: 2010 Emergency Department Summary 2 Annual Benchmarking Report: Malpractice Risks in Emergency Medicine, CRICO Strategies, 2011 3 National Hospital Ambulatory Medical Care Survey: 2010 Emergency Department Summary

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Advanced Practice Strategies Begins Testing GNOSIS(TM) for Emergency Medicine


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