Guide Achieving Justice in Genomic Translation: Re-Thinking the Pathway to Benefit

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Pharoah, C. Amos, M. Zawistowski, S. Puig, D. Duffy, F. Demenais, E. Nagore, S. MacGregor, M. Iles, M. Cotney, A. Wilderman, J.

Accepted Open Panels - 4S NEW ORLEANS

VanOudenhove, J. Amariuta, Y. Luo, E. Davenport, S. Gazal, B. Westra, N. Teslovich, A. Price, S. Navarro, G. Gursoy, J. Rozowsky, A. Dobin, T. Galeev, X. Kong, A. Vlasova, R. Guigo, M. Schatz, T.

Achieving Justice in Genomic Translation : Re-Thinking the Pathway to Benefit

Gingeras, M. Shooshtari, C. Loh, G. Genovese, S. Jakubek, J. Fowler, F. San Lucas, H.

Interagency Autism Coordinating Committee - January 2019

Kadara, P. Huang, Y. Ye, Y. Dou, X. Yang, S. Wang, X. Zheng, L. Boix, M. Kousi, H. Mathys, L. Tsai, M. Jones, V. Mazzotti, P. Marques-Vidal, S. Sabia, A. Dashti, J. Engmann, D. Kocevska, J. Tyrrell, R. Beaumont, M. Hillsdon, K. Ruth, M. Tuke, H. Yaghootkar, J. Harrison, R. Freathy, A.

Murray, A. Luik, N. Amin, J. Lane, R. Saxena, M. Rutter, H. Tiemeier, Z. Kutalik, M. Kumari, T. Frayling, M. Weedon, P. Gehrman, A. Lankester, D. Zanetti, T. Assimes, E. Li, A. Justice, K. McGinnis, N. Sun, R. Smith, C. Dao, J. Tate, W. Becker, J. Concato, J. Gelernter, H. Kranzler, H. Zhao, K. This session is not eligible for continuing education credit. Chan, E. Lim, G. Tseng, G. Sheynkman, D. Hill, M. Blumenfeld, J. Staples, O. Gottesman, J. Overton, J. Reid, D. Carey, M. Murray, C. Gursoy, A. Harmanci, M.

Green, F. Navarro, M. Moderator : Andrew S. Morris, J. Kemp, S. Youlten, L. Laurent, J. Logan, R. Chai, N. Vulpescu, V. Forgetta, A. Kleinman, S. Mohanty, C. Sergio, J. Quinn, L. Nguyen-Yamamoto, A. Luco, J. Vijay, C. Gregson, N. Harvey, E. Grundberg, D. Goltzman, D. Adams, C. Lelliott, D. Hinds, C. Ackert-Bicknell, Y-H. Hsu, M. Maurano, P. Croucher, G. Williams, J. Bassett, D. Evans, J. Al-Barghouthi, G. Calabrese, L. Mesner, K. Nguyen, M. Bouxsein, D. Brooks, M. Horowitz, C. Rosen, S. Tommasini, P. Simecek, G. Churchill, C. Ackert-Bicknell, D. Pomp, C. Marom, L.

Burrage, M. Jain, I. Grafe, D. Scott, M. Shinawi, J. Rosenfeld, J. Heaney, D. Lanza, Y. Lee, I. Song, J. Sliepka, D. Batkovskyte, Z. Jin, B. Dawson, S. Chen, Y. Chen, M. Jiang, V. Sutton, C. Kuzawa, R. Venditti, M. Weis, A. Tremp, B. Westerfield, D. Eyre, C. Ambrose, M. De Matteis, B. Lee, Members of the Undiagnosed Diseases Network. Waterworth, D.

Rajpal, K. Guo, J. Freudenberg, K. Sieber, A. Pandey, I. Tachmazidou, R. Gu, A. Hazell, M. Zarb, J.

  • Diagnostic Imaging for Physical Therapists - E-Book.
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Furnival, L. Korf, G. Barsh, K. Bowling, A. Cannon, J. Cimino, G. Cooper, W. Curry, K. East, J. Edberg, M. Fouad, A. Hurst, M. Might, S. Knight, T. May, I. Moss, M. Nakano, J. Schach, B. Shaw, S. Advani, C. Brunette, S. Miller, N. Majahalme, L. MacMullen, C. Hau, A. Zimolzak, J.

Abedi, R. Zand, T. Person, A. Sadeghi, S. Thakur, Y. Zhang, M. Lee, N. Andary, C. Griessenauer, A. Michael, M. Sandulescu, N. Holland, A. Sarkar, C. Schirmer, N. Martin, M. Williams, D. Lea, M. Subramaniam, A. Ko, T. Raitoharju, M. Mononen, O. Raitakari, M. Ala-Korpela, P. Pajukanta, N. Zaitlen, J. Verma, A. Lucas, I. Hertz-Picciotto, Y. Ludena-Rodriguez, RJ. Schmidt, MD. Laville, Y. Sung, T. Winkler, M. Province, K. Rice, S. Kardia, J. Gauderman, D. Rao, H. Jiang, X. Li, J. Inlora, T. Wang, Q.

Liu, M. Moderators : Adam M. We must to battle funding decline and spot fakenews genomicliteracy. It is now more important than ever to ensure genomics literacy across the spectrum of age ranges and career specialties. Washington Univ St Louis. HudsonAlpha Inst Biotech, Huntsville. Emory Univ Sch Med, Atlanta. Neurodevelopmental disorders, including autism spectrum disorders, intellectual disability, and schizophrenia, are prevailing conditions associated with impaired cognitive and adaptive behavior. Many chromatin regulators have been genetically associated with neurodevelopmental disorders, and we have begun to understand the molecular and cellular basis of these disorders.

In this session, leading experts will discuss how chromatin contributes to normal brain development and how altering the functions of histone modifiers and chromatin remodelers in disease impairs neurodevelopment. The first speaker, Shigeki Iwase, focuses on regulators of histone H3K4 methylation and discusses how this chromatin modification contributes to normal and pathological brain development.

Next, Elena Battaglioli highlights the unique chromatin regulation within neurons via neuron-specific alternative splicing of a histone demethylase. The third speaker, Anne West, discusses how repressive histone H3K27 methylation controls the temporal maturation of postmitotic neurons. Finally, David Picketts explains the roles of ATP-dependent chromatin remodeling enzymes in brain development. While the session aims to shed new light on fundamental chromatin regulations leading to normal brain development and function, it will also provide clinical insights into how we diagnose, discover pathophysiological mechanisms, and eventually ameliorate neurodevelopmental disorders.

Univ Milan, Italy. Duke Univ Sch Med, Durham. Univ Ottawa, Canada. Moderators : Amanda E. Whilst the contribution of common genomic variation to both rare and common disorders has informed both human physiology and disease etiology, its translation into the clinical setting is only now emerging. Individually each variant is of poor predictive or diagnostic value due to its low effect size, but evidence is emerging that an individualized combinatorial polygenic risk score PRS may have utility in both population-based and clinic-based medicine.

Clinical trials are currently investigating the use of PRS-based assessments to aid in individual diagnosis or as a means of stratifying, and thereby appropriately targeting, disease risk at a population level in order to increase diagnosis rate and cost-efficiency. The session will also demonstrate the interplay between PRS and additional monogenic variants and environmental factors in determining clinical phenotypes.

Cardiff Univ, United Kingdom. Massachusetts Gen Hosp, Boston. Genomic tools and analysis methods are enabling investigation of the functional effects of genetic variants at high-throughput. Functional assays based on flow cytometry, minigene reporters, or differential survival, often using next-generation sequencing as a readout, demonstrate a growing toolkit of methods for assessing functional impacts. Machine learning approaches are being applied to these datasets to estimate the probability of pathogenicity.

Taken together these tools provide a powerful and scalable approach to understanding functional impacts of genetic variants where clinical or population data are lacking. This session will feature presentations from leaders in this exciting new field, using as a primary example the BRCA genes and their impact on cancer risk. Univ Washington, Seattle. Univ Nebraska Med Ctr, Omaha. Brown Univ, Providence. Moderators : David M. Mendelian Randomization MR is a statistical method that uses genetic variants as instrumental variables to inform causal relationships.

Initial applications of MR mostly focused on estimating the causal effect of environmental exposures on medically relevant outcomes. In recent years, MR has found considerable utility across a wide range of domains including in the development of pharmaceutical agents i. In this session, we discuss some of the latest breakthroughs in the development and application of the MR methodology. This includes using MR to inform drug development including using high dimensional -omics data , performing MR studies of disease progression which is potentially more informative in terms of disease treatment than MR studies of disease risk , developing new strategies to deal with the pervasive issue of pleiotropy in MR analyses, and using MR to investigate the causal influence of maternal exposures on offspring outcomes.

Davey Smith. Univ Bristol, United Kingdom. Univ Queensland, Brisbane, Australia. Moderators : Nanibaa' A. Indigenous populations worldwide face unique health challenges, inequities, and barriers to healthcare. As such, they typically have poorer health outcomes than do non-Indigenous groups. We welcome an engaged audience, including through our Twitter hashtag IndiGenomics.

Our all-Indigenous international panel will be co-moderated by a bioethicist NanibaaGarrison and genomic scientist KeoluFox and will consist of a highly interdisciplinary group of experts, including a surgeon, internist, epidemiologist and translational researcher, who will present the initiatives they are involved in, within their respective regions, to narrow the genomic divide. Univ Hawaii, Manoa, Honolulu. Univ Waikato, Hamilton, New Zealand. Moderator : Armin Pourshafeie, Stanford Univ.

In recent years, the available genetic and health related data has grown at an astonishing rate. The availability and sharing of this data has led to exceptional research opportunities for researchers worldwide. At the same time, negligence in sharing the data can put participants in danger of re-identification. In many cases, re-identification can have severe adverse effects on the participants and can lead to lost trust in the scientists and withdrawal of participation in the future.

As a result, it is crucial to 1 understand the risks and 2 develop methods that allow for the progress of science through sharing the data without jeopardizing the participants' privacy. In this line, Yaniv Erlich will introduce the problem and discuss the taxonomy of attacks as well as the trade-offs between privacy and utility of the data. Next, Bradley Malin will talk about new game-theoretical insights that help construct platforms that balance privacy, utility of data, and the adversary's desire to breach a participants' privacy.

He will further discuss existing, real-world implementation of data sharing schemes employing these insights. Next, Victoria Popic will discuss her new read-mapping algorithm, Balaur. Balaur allows for scalability by delegating a substantial amount of the computations to the public cloud while staying private. Lastly, Bonnie Berger will discuss recent results on performing GWAS studies, at scale, while ensuring that the information about the underlying data is not leaked.

The talks are followed by a panel discussion with all the speakers. Vanderbilt Univ, Nashville. Illumina, Inc, San Francisco. Massachusetts Inst Technol, Cambridge. Semina, Med Col Wisconsin, Milwaukee. Eye diseases are among the most common inherited human disorders. Around one third of the known genetic defects or syndromes involve the eye. Eye research has often blazed a trail for many disciplines to follow, giving a lead in functional genomics, transcriptomics, genome editing, stem cell biology, animal models of disease, and the development of novel therapeutic approaches such as gene therapy.

Geneticists have identified a large proportion of the genes underlying genetic eye diseases. However, the coding genetic defects identified only account for part of the morbid genome of inherited eye diseases, suggesting new classes of defects such as non-coding defects or frequent hypomorphic alleles in known or undiscovered eye disease genes. These changes are either largely undetected by conventional genomic strategies or are difficult to interpret. This session brings together a diverse group of experts in gene discovery and mechanisms of disease, bioinformatics, model systems and gene editing.

They have been committed to identify genes and functionally characterize genetic defects, both coding and non-coding, that are specifically or predominantly expressed in the eye and therefore play an important role in eye function as well as in the pathogenesis of inherited eye disorders. Together, this session will address knowledge gaps in the pathogenesis of genetic eye diseases through cutting-edge approaches related to bioinformatics, functional genomics, genome editing and model systems as a paradigm for precision medicine in Mendelian disease.

De Baere. Ghent Univ, Belgium. Med Col Wisconsin, Milwaukee. Columbia Univ, New York. It is well established that tumors are marked by heterogeneity. Our understanding of this heterogeneity has largely been limited to studies of DNA variation, with many key insights about minimal residual disease, treatment-resistant clones, and response to immunotherapy emerging as a result.

However, the development of higher-throughput single cell technologies and new applications of that technology have broadened our understanding of tumor heterogeneity to include differences in gene expression, epigenomics, and the tumor microenvironment. These new approaches provide an unprecedented look at the complexity of tumor evolution and provide new markers for metastasis, drug response, and disease state.

In this session, we will describe how single cell technologies are being used to identify different types of tumor heterogeneity and how this information is changing our understanding of tumor biology, metastatic processes, and treatment. The session will cover 1 the use of single cell DNA and RNA sequencing to understand the progression from in situ to invasive disease in cancer, 2 single cell barcoding to track the growth and composition of genetically-altered human tumor cells in mouse models of metastasis, 3 how epigenomic heterogeneity can be used to identify key regulatory pathway differences associated with differences in treatment response and growth potential in tumor populations, and 4 the importance of single cell profiling of tumor samples to understand the interplay of the immune system and the tumor during tumor evolution and immunotherapy.

Stanford Univ. Univ Southern California, Los Angeles. Sirr, A. Scott, G. Cromie, M. Heyesus, A. El-Hattab, F. Alkuraya, A. Wain, D. Azzariti, J. Knight Johnson, P. Krautscheid, J. O'Daniel, D. Ritter, J. Savatt, C. Martin, E. Yuan, W. Bi, N. Batzir, S. Gu, W. Zhu, F. Bocanegra, C. Fong, J. Holder, J. Nguyen, J. Zhang, C. Shaw, C. Schaaf, C. Eng, Y. Yang, P.

Sobreira, E. Wohler, F. Schiettecatte, R. Martin, Z. Akdemir, S. Jhangiani, J. Posey, J. Lupski, D. Valle, A. Patel, P. Pawliczek, L. Babb, A. Jackson, S. Paithankar, L. Ashmore, C. Bizon, T. Nelson, B. Powell, R. Freimuth, N. Shah, M. Wright, S. Dwight, J. Zhen, P. McGarvey, H. Rehm, C. Bustamante, S. Plon, A. Lincoln, R. Truty, C. Lin, J. Zook, J. Paul, V. Ramey, M. Salit, H. Rehm, R. Nussbaum, M. Mukherjee, P. Srinivasan, C. Bandlamudi, Y. Kemel, A. Zehir, D. Mandelker, M. Walsh, M. Zauderer, M. Hellmann, M. Selvan, Z. Lipkin, M. Ladanyi, D. Solit, M. Robson, L. Zhang, J.

Vijai, D. Jones, C. Rudin, B. Taylor, Z. Stadler, M. Berger, K. Kesserwan, K. Hamilton, S. Newman, E. Quinn, R. McGee, R. Nuccio, S. Hines-Dowell, L. Harrison, S. Brady, M. Rusch, J. Nakitandwe, JM. Valdez, A. Ouma, E. Gerhardt, L. Taylor, S. Foy, A. Silkov, A.

Tesia Kolodziejczyk, OMS III

Patel, M. Edmonson, D. Hedges, S. Shurtleff, E. Azzato, DW. Ellison, J. Downing, J. Zhang, K. Zepeda Mendoza, S. Smadbeck, L. Baughn, P. Greipp, G. Vasmatzis, N. Hoppman, R. Gai, P. Triska, K. Kaneva, D. Merkurjev, M. Falk, J. Luo, F. Lin, G. Akgumus, D. Gallo, X. Zhao, H. Jung, J. Tang, E. Romasko, L. Conlin, G. Wertheim, L. Surrey, M. Azzato, J. Nakitandwe, S. Shurtleff, C. Kesserwan, D. Silkov, Y. Liu, Y. Liu, S. Brady, J. Gu, M. Edmonson, A. Wilkinson, K. Hamilton, R. McGee, E. Nuccio, L. Harrison, A. Bahrami, J. Klco, B.

Orr, A. Pappo, G. Rusch, D. Downing, K. Nichols, J. Ganapathi, L. Padgett, K. Yamada, O. Devinsky, R. Willaert, R. Apply Now. Maps Directory Library Calendar Contact. Search form. Suzanne Holland. Posted on:. Suzanne Holland PhD, ' Holland is the John B. Holland's research focuses on the intersection between religion, ethics, medicine, and new genetic technologies, with an emphasis on issues of justice and feminist bioethics.