UCONN Health

Farmington, CT, United States

UCONN Health

Farmington, CT, United States
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News Article | May 4, 2017
Site: www.eurekalert.org

From prenatal genetic screening to the genetic testing of women with family histories of breast cancer, genomics is rapidly becoming a fixture in our lives. The National Human Genome Research Institute (NHGRI) has, since its founding, sponsored research into the ethical, legal and social implications (ELSI) of genomics to understand the profound societal and personal effects of technological advances in genomics. Genomics and Society: Expanding the ELSI Universe, a three-day conference on the myriad issues that spring from the ethical, legal and social implications of genomic research, will be hosted on June 5 - 7, 2017 by The Jackson Laboratory for Genomic Medicine and UConn Health in Farmington, Connecticut. The conference is funded by NHGRI through a grant to Columbia University Medical Center (CUMC). The latest research on ELSI topics will be presented by physicians, geneticists, genetic counselors, social scientists and lawyers, in academia, government and industry from around the world. From renowned researchers at the top of their fields to students and early career scientists bringing new insight and perspectives, the depth and range of expertise at the conference promise fascinating debates over new and emerging data. Keynote speaker Eric Dishman, director of the National Institutes of Health (NIH) Precision Medicine Initiative's All of Us Research Program will kick off the meeting with a discussion of the need for continuous innovation to address the quickly evolving genomic landscape. Other featured speakers include: The full program presents new research in more than 150 expert panel discussions, individual paper and poster presentations, and workshops on topics ranging from the implications of genetic testing in the criminal justice system to the uses and potential misuses of CRISPR - the very latest in genetic manipulation. "We are honored to play a part in bringing together world-renowned experts to discuss the most pressing issues at the crossroads of genomics and ethics," says Dr. Charles Lee, Scientific Director of The Jackson Laboratory for Genomic Medicine. "As our society rapidly embraces precision medicine, we have an obligation to provide both ethical and scientific guidance to researchers in the lab, clinicians on the frontlines, and patients making important decisions about their health." "As our society rapidly embraces precision medicine, we have an obligation to provide both ethical and scientific guidance to researchers in the lab, clinicians on the frontlines, and patients making important decisions about their health." "The increase in genomic testing and technology are fueling breakthrough discoveries here in Connecticut and around the globe for heart disease, cancer and a host of rare diseases," says Dr. Bruce T. Liang, Dean of UConn School of Medicine. "However, these promising personalized medicine therapies and our greater genetic knowledge may also come with a steep societal price if we don't address the associated concerns in a timely fashion." "NHGRI has been the major funder of ELSI research since the beginning of the Human Genome Project," said Lawrence Brody, Ph.D., NHGRI's Director of the Division of Genomics and Society. "Our aim is to support research that anticipates and addresses the societal impact of genomic science. "NHGRI has also played a major role in bringing the results of ELSI research into the public forum," noted Dr. Paul Appelbaum, professor at CUMC and director of the Columbia University Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral Genetics. "As genomic technology expands by leaps and bounds, new ethical issues of consent, of commercialization, of justice and access to genomic medicine confound scientists and the public alike. ELSI research is seeking evidence-based answers to these novel questions. This conference aims to share the latest ELSI research as widely as possible." For more information, visit the ELSI Congress website at: http://www. . Follow #ELSICON for news updates before and during the conference. The conference is funded by NHGRI P50 HG007257 04S1 UConn Health is Connecticut's only public academic medical center. Based on a 206-acre campus in Farmington, UConn Health has a three-part mission: research, teaching and patient care. Home to the UConn School of Medicine, School of Dental Medicine and UConn John Dempsey Hospital with over 5,500 employees supporting nearly 1,000 students, over 600,000 annual patient visits, and innovative scientific research contributing to the advancement of medicine. For more information, visit health.uconn.edu. The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a National Cancer Institute-designated Cancer Center, a facility in Sacramento, Calif., and a genomic medicine institute in Farmington, Conn. It employs 1,800 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. For more information, please visit http://www. . Columbia University Medical Center provides international leadership in basic, preclinical, and clinical research; medical and health sciences education; and patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest faculty medical practices in the Northeast. The campus that Columbia University Medical Center shares with its hospital partner, NewYork-Presbyterian, is now called the Columbia University Irving Medical Center. For more information, visit cumc.columbia.edu or columbiadoctors.org. The National Human Genome Research Institute's (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was established in 1990 as an integral part of the Human Genome Project (HGP) to foster basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities. The ELSI Research Program funds and manages studies, and supports workshops, research consortia and policy conferences related to these topics.


Trestman R.L.,UConn Health
Journal of the American Academy of Psychiatry and the Law | Year: 2017

Forensic psychiatric units are high-risk environments for aggressive behavior. Many elements are necessary for the successful reduction or elimination of aggression in the process of creating a safe treatment environment. Many specific interventions have been attempted over the years with various degrees of, usually limited, success. Tolisano et al. present an integrated behavioral approach with solid theoretical underpinnings and opportunities to support significant safety improvements for select patients, albeit with several caveats. © 2017, American Academy of Psychiatry and the Law. All rights reserved.


BACKGROUND:: Molecular technologies offer clinicians the tools to provide high-quality, cost-effective patient care. We evaluated education focused on molecular diagnostics, genomics, and personalized medicine in dermatopathology fellowship. DESIGN:: A 20-question online survey was emailed to all (n = 53) Accreditation Council for Graduate Medical Education (ACGME)-accredited dermatopathology training programs in the United States. RESULTS:: Thirty-one of 53 program directors responded (response rate = 58%). Molecular training is undertaken in 74% of responding dermatopathology fellowships, with levels of instruction varying among dermatology-based and pathology-based programs. Education differed for dermatology- and pathology-trained fellows in approximately one-fifth (19%) of programs. Almost half (48%) of responding program directors believe that fellows are not currently receiving adequate molecular education although the majority (97%) expect to incorporate additional instruction in the next 2–5 years. Factors influencing the incorporation of relevant education include perceived clinical utility and Accreditation Council for Graduate Medical Education/residency review committee (RRC) requirements. Potential benefits of molecular education include increased medical knowledge, improved patient care, and promotion of effective communication with other healthcare professionals. More than two-thirds (68%) of responding program directors believe that instruction in molecular technologies should be required in dermatopathology fellowship training. CONCLUSIONS:: Although all responding dermatopathology fellowship program directors agreed that molecular education is important, only a little over half of survey participants believe that their fellows receive adequate instruction. This represents an important educational gap. Discussion among those who oversee fellow education is necessary to best integrate and evaluate teaching of molecular dermatopathology. Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.


Yan Y.,UConn Health | Eipper B.A.,UConn Health | Mains R.E.,UConn Health
Cerebral Cortex | Year: 2015

Proteins derived from the Kalrn gene, encoding 2 Rho guanine nucleotide exchange factor (GEF) domains, affect dendritic and axonal morphogenesis. The roles of endogenous Kalirin-9 (Kal9) and Kalirin-12 (Kal12), the Kalrn isoforms expressed before synaptogenesis, have not been studied in neurite growth and maturation during early development. The Caenorhabditis elegans and Drosophila melanogaster orthologues of Kalrn encode proteins equivalent to Kal9 but, lacking a kinase domain, neither organism expresses a protein equivalent to Kal12. Both in vivo and in vitro analyses of cortical neurons from total Kalrn knockout mice, lacking all major Kalirin isoforms, revealed a simplified dendritic arbor and reduced neurite length. Using isoform-specific shRNAs to reduce Kal9 or Kal12 expression in hippocampal cultures resulted in stunted dendritic outgrowth and branching in vitro, without affecting axonal polarity. Exposing hippocampal cultures to inhibitors of the first GEF domain of Kalirin (ITX3, Z62954982) blunted neurite outgrowth and branching, confirming its essential role, without altering the morphology of neurons not expressing Kalrn. In addition, exogenous expression of the active kinase domain unique to Kal12 increased neurite number and length, whereas that of the inactive kinase domain decreased neurite growth. Our results demonstrate that both endogenous Kal9 and endogenous Kal12 contribute to dendritic maturation in early development. © 2014 The Author.


Hoch J.C.,UConn Health
Journal of Magnetic Resonance | Year: 2017

Non-Fourier methods of spectrum analysis are gaining traction in NMR spectroscopy, driven by their utility for processing nonuniformly sampled data. These methods afford new opportunities for optimizing experiment time, resolution, and sensitivity of multidimensional NMR experiments, but they also pose significant challenges not encountered with the discrete Fourier transform. A brief history of non-Fourier methods in NMR serves to place different approaches in context. Non-Fourier methods reflect broader trends in the growing importance of computation in NMR, and offer insights for future software development. © 2017.


Collaboration with UConn Health Completes First Proof-of-Concept for DPX-NEO Program Designed to Develop Patient-specific Neoepitope Immunotherapies HALIFAX, NOVA SCOTIA--(Marketwired - Nov. 3, 2016) - Immunovaccine Inc. ("Immunovaccine" or the "Company") (TSX:IMV)(OTCQX:IMMVF), a clinical stage vaccine and immunotherapy company, today announced positive results from preclinical studies completed in collaboration with UConn Health for Immunovaccine's DPX-NEO program, which is designed to develop patient-specific neoepitope immunotherapies. Results from the first study using neoepitope formulated with the DepoVax™ platform in mouse tumor models have shown positive anti-cancer activity. Researchers are preparing a manuscript for submission to a peer-reviewed journal and will release further data upon publication. "The performance of the DepoVax™-formulated neoepitopes has provided a solid demonstration of the platform's potential as an attractive candidate for personalized cancer immunotherapies. I look forward to planning with Immunovaccine the next steps of our collaboration, with the goal of advancing this program into clinical studies here at UConn Health," said Principal Investigator Pramod K. Srivastava, Ph.D., M.D., Professor of Immunology and Medicine, and Director, Carole and Ray Neag Comprehensive Cancer Center, University of Connecticut School of Medicine at UConn Health. Epitopes are the part of the biological molecule that is the target of an immune response. Neoepitopes are the mutated proteins produced by a patient's own tumors. Neoepitope vaccines target these patient-specific proteins and have been called the next immunotherapy frontier.1 In this preclinical program, researchers from UConn Health supplied multiple neoepitopes identified for their internal mouse tumor model to Immunovaccine. Immunovaccine formulated each of these peptides in its proprietary DepoVax™ platform and supplied the resulting vaccines to UConn Health. Researchers evaluated each vaccine for immunologic and anti-tumor activity. "This study provides evidence that the DepoVax™ platform can serve as an optimal enabling formulation technology to deliver strong and sustained immune responses against tumors with neoepitopes, an approach that we believe is a promising option for advancing personalized cancer medicines," said Frederic Ors, Immunovaccine's Chief Executive Officer. "With our novel DepoVax™ platform and cost-effective, scaleable manufacturing capabilities, we believe Immunovaccine can play an important role advancing clinical progress for neoepitope therapies as this exciting field evolves." Immunovaccine launched its DPX-NEO program earlier this year, announcing an initial collaboration with UConn Health. DepoVax™ is a patented formulation that provides controlled and prolonged exposure of antigens plus adjuvant to the immune system, resulting in a strong, specific and sustained immune response with the potential for single-dose effectiveness. The DepoVax™ platform is flexible and can be used with a broad range of target antigens for preventative or therapeutic applications. The technology is designed to be commercially scalable, with the potential for years of shelf life stability. Fully synthetic, off-the-shelf DepoVax™-based vaccines are also relatively easy to manufacture, store, and administer. These characteristics enable Immunovaccine to pursue vaccine candidates in cancer, infectious diseases and other vaccine applications. Immunovaccine Inc. is a clinical-stage biopharmaceutical company dedicated to making immunotherapy more effective, more broadly applicable, and more widely available to people facing cancer and infectious diseases. Immunovaccine develops cancer immunotherapies and infectious disease vaccines based on the Company's DepoVax™ platform, a patented delivery agent that provides controlled and prolonged exposure of antigens and adjuvant to the immune system. Immunovaccine has advanced two T cell activation therapies for cancer through Phase 1 human clinical trials and is currently conducting a Phase 1/1b study with Incyte Corporation assessing lead cancer therapy, DPX-Survivac, as part of a triple combination therapy in ovarian cancer, as well as a Phase 2 study in recurrent lymphoma. The Company is also advancing an infectious disease pipeline, including innovative vaccines for respiratory syncytial virus (RSV), and currently has clinical projects ongoing to assess the potential of DepoVax™ to address malaria and the Zika virus. Connect at www.imvaccine.com. UConn Health is an integrated academic medical center that is entering an era of unprecedented growth in all three areas of its mission: academics, research, and clinical care. Based in Farmington, Conn., UConn Health is home to the School of Medicine, School of Dental Medicine, John Dempsey Hospital, UConn Medical Group, UConn Health Partners, University Dentists and a thriving research enterprise. This press release contains forward-looking information under applicable securities law. All information that addresses activities or developments that we expect to occur in the future is forward-looking information. Forward-looking statements are based on the estimates and opinions of management on the date the statements are made. However, they should not be regarded as a representation that any of the plans will be achieved. Actual results may differ materially from those set forth in this press release due to risks affecting the Company, including access to capital, the successful completion of clinical trials and receipt of all regulatory approvals. Immunovaccine Inc. assumes no responsibility to update forward-looking statements in this press release except as required by law.


Carmichael G.G.,UCONN Health
Viruses | Year: 2016

Murine polyomavirus (MPyV) infects mouse cells and is highly oncogenic in immunocompromised hosts and in other rodents. Its genome is a small, circular DNA molecule of just over 5000 base pairs and it encodes only seven polypeptides. While seemingly simply organized, this virus has adopted an unusual genome structure and some unusual uses of cellular quality control pathways that, together, allow an amazingly complex and varied pattern of gene regulation. In this review we discuss how MPyV leverages these various pathways to control its life cycle. © 2016 by the author; licensee MDPI, Basel, Switzerland.


Acquired sensorineural hearing loss and tinnitus can come about through various etiologies such as exposure to excessively loud noise or drugs with ototoxic properties. As such, acquired hearing loss is a common source of morbidity which deleteriously affects the ability to communicate. At present our ability to detect acquired hearing loss and tinnitus at its earliest stages is limited and there are no adjuncts to audiometric evaluation. The earliest cellular targets of noise and ototoxins in the cochlea are the outer hair cells (OHC). I hypothesize that serum assays of OHC specific protein, prestin, will allow detection and quantification of OHC damage before audiometric testing can identify presence of hearing loss. At present, there are no data available to evaluate this hypothesis, but initial evaluation can readily be carried out using existing experimental animal models of ototoxicity and noise-induced hearing loss. Early detection of OHC damage is critical to adoption of measures aimed at ameliorating hearing loss and tinnitus, thus reducing permanent deficits and disability. © 2015 Elsevier Ltd.


DeBerardino T.M.,UCONN Health
Sports Medicine and Arthroscopy Review | Year: 2015

Regenerative medicine technology is currently being used to create hyaline-like cartilage tissue from autologous cartilage cells. NeoCart is one such investigational scaffold-based cartilage implant used to treat knee cartilage injuries. There are limited data available regarding this specific treatment option, as NeoCart is currently undergoing a phase III clinical trial at several cartilage restoration centers across the United States. © 2015 Wolters Kluwer Health, Inc.


Canalis E.,UConn Health | Zanotti S.,UConn Health
Orphanet journal of rare diseases | Year: 2014

Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascular defects and polycystic kidneys. HCS is rare and is inherited as autosomal dominant although many sporadic cases have been reported. HCS is associated with mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the creation of a truncated and stable NOTCH2 protein with enhanced NOTCH2 signaling activity. Although the number of cases with NOTCH2 mutations reported are limited, it would seem that the diagnosis of HCS can be established by sequence analysis of exon 34 of NOTCH2. Notch receptors are single-pass transmembrane proteins that determine cell fate, and play a critical role in skeletal development and homeostasis. Dysregulation of Notch signaling is associated with skeletal developmental disorders. There is limited information about the mechanisms of the bone loss and acroosteolysis in HCS making decisions regarding therapeutic intervention difficult. Bone antiresorptive and anabolic agents have been tried to treat the osteoporosis, but their benefit has not been established. In conclusion, Notch regulates skeletal development and bone remodeling, and gain-of-function mutations of NOTCH2 are associated with HCS.

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