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17 results on '"Lasko, P."'

1. Initiating an undiagnosed diseases program in the Western Australian public health system

Author

Baynam, G, Broley, S, Bauskis, A, Pachter, N, McKenzie, F, Townshend, S, Slee, J, Kiraly-Borri, C, Vasudevan, A, Hawkins, A, Schofield, L, Helmholz, P, Palmer, R, Kung, S, Walker, CE, Molster, C, Lewis, B, Mina, K, Beilby, J, Pathak, G, Poulton, C, Groza, T, Zankl, A, Roscioli, T, Dinger, ME, Mattick, JS, Gahl, W, Groft, S, Tifft, C, Taruscio, D, Lasko, P, Kosaki, K, Wilhelm, H, Melegh, B, Carapetis, J, Jana, S, Chaney, G, Johns, A, Owen, PW, Daly, F, Weeramanthri, T, Dawkins, H, Goldblatt, J, Baynam, G, Broley, S, Bauskis, A, Pachter, N, McKenzie, F, Townshend, S, Slee, J, Kiraly-Borri, C, Vasudevan, A, Hawkins, A, Schofield, L, Helmholz, P, Palmer, R, Kung, S, Walker, CE, Molster, C, Lewis, B, Mina, K, Beilby, J, Pathak, G, Poulton, C, Groza, T, Zankl, A, Roscioli, T, Dinger, ME, Mattick, JS, Gahl, W, Groft, S, Tifft, C, Taruscio, D, Lasko, P, Kosaki, K, Wilhelm, H, Melegh, B, Carapetis, J, Jana, S, Chaney, G, Johns, A, Owen, PW, Daly, F, Weeramanthri, T, Dawkins, H, and Goldblatt, J

Abstract

© 2017 The Author(s). Background: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program-Western Australia (UDP-WA). Results: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. Conclusion: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has be

Published
2017

2. Progress in rare diseases research 2010-2016: An IRDiRC perspective

Author

Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V., Austin, C.P., Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V., and Austin, C.P.

Abstract

Rare diseases by definition are conditions that affect small numbers of people...

Published
2017

3. Initiating an undiagnosed diseases program in the Western Australian public health system

Author

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C.E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M.E., Mattick, J.S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P.W., Daly, F., Weeramanthri, T., Dawkins, H., Goldblatt, J., Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C.E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M.E., Mattick, J.S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P.W., Daly, F., Weeramanthri, T., Dawkins, H., and Goldblatt, J.

Abstract

Background: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program-Western Australia (UDP-WA). Results: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. Conclusion: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those w

Published
2017

4. Improved diagnosis and care for rare diseases through implementation of precision public health framework

Author

Baynam, G., Bowman, F., Lister, K., Walker, C.E., Pachter, N., Goldblatt, J., Boycott, K.M., Gahl, W.A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P.N., Haendel, M., Brudno, M., Mattick, J.S., Dinger, M.E., Roscioli, T., Cowley, M.J., Olry, A., Hanauer, M., Alkuraya, F.S., Taruscio, D., Posada de la Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N.G., Julkowska, D., Le Cam, Y., Terry, S.F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S.C., Austin, C.P., Draghia-Akli, R., Weeramanthri, T.S., Molster, C., Dawkins, H.J.S., Baynam, G., Bowman, F., Lister, K., Walker, C.E., Pachter, N., Goldblatt, J., Boycott, K.M., Gahl, W.A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P.N., Haendel, M., Brudno, M., Mattick, J.S., Dinger, M.E., Roscioli, T., Cowley, M.J., Olry, A., Hanauer, M., Alkuraya, F.S., Taruscio, D., Posada de la Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N.G., Julkowska, D., Le Cam, Y., Terry, S.F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S.C., Austin, C.P., Draghia-Akli, R., Weeramanthri, T.S., Molster, C., and Dawkins, H.J.S.

Abstract

Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care. In the rare diseases field, the vast majority of diseases are caused by destructive but previously difficult to identify protein-coding gene mutations. The reduction in cost of genetic testing and advances in the clinical use of genome sequencing, data science and imaging are converging to provide more precise understandings of the ‘person-time-place’ triad. That is: who is affected (people); when the disease is occurring (time); and where the disease is occurring (place). Consequently we are witnessing a paradigm shift in public health policy and practice towards ‘precision public health’. Patient and stakeholder engagement has informed the need for a national public health policy framework for rare diseases. The engagement approach in different countries has produced highly comparable outcomes and objectives. Knowledge and experience sharing across the international rare diseases networks and partnerships has informed the development of the Western Australian Rare Diseases Strategic Framework 2015–2018 (RD Framework) and Australian government health briefings on the need for a National plan. The RD Framework is guiding the translation of genomic and other technologies into the Western Australian health system, leading to greater precision in diagnostic pathways and care, and is an example of how a precision public health framework can improve health outcomes for the rare diseases population. Five vignettes are used to illustrate how policy decis

Published
2017

5. Initiating an undiagnosed diseases program in the Western Australian public health system

Author

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C.E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M.E., Mattick, J.S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P.W., Daly, F., Weeramanthri, T., Dawkins, H., Goldblatt, J., Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C.E., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M.E., Mattick, J.S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P.W., Daly, F., Weeramanthri, T., Dawkins, H., and Goldblatt, J.

Abstract

Background: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program-Western Australia (UDP-WA). Results: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. Conclusion: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those w

Published
2017

6. Progress in rare diseases research 2010-2016: An IRDiRC perspective

Author

Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V., Austin, C.P., Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V., and Austin, C.P.

Abstract

Rare diseases by definition are conditions that affect small numbers of people...

Published
2017

7. The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

Author

Lochmüller, H., TorrentFarnell, J., Le Cam, Y., Jonker, A., Lau, L., Baynam, G., Kaufmann, P., Dawkins, Hugh, Lasko, P., Austin, C., Boycott, K., Lochmüller, H., TorrentFarnell, J., Le Cam, Y., Jonker, A., Lau, L., Baynam, G., Kaufmann, P., Dawkins, Hugh, Lasko, P., Austin, C., and Boycott, K.

Abstract

© 2017 European Society of Human Genetics. The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members - currently nearly 50 strong - have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.

Published
2017

8. Improved diagnosis and care for rare diseases through implementation of precision public health framework

Author

Baynam, Gareth, Bowman, F., Lister, K., Walker, C., Pachter, N., Goldblatt, J., Boycott, K., Gahl, W., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, Fiona, Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P., Haendel, M., Brudno, M., Mattick, J., Dinger, M., Roscioli, T., Cowley, M., Olry, A., Hanauer, M., Alkuraya, F., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N., Julkowska, D., Le Cam, Y., Terry, S., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S., Austin, C., Draghia-Akli, R., Weeramanthri, Tarun, Molster, C., Dawkins, Hugh, Baynam, Gareth, Bowman, F., Lister, K., Walker, C., Pachter, N., Goldblatt, J., Boycott, K., Gahl, W., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, Fiona, Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P., Haendel, M., Brudno, M., Mattick, J., Dinger, M., Roscioli, T., Cowley, M., Olry, A., Hanauer, M., Alkuraya, F., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N., Julkowska, D., Le Cam, Y., Terry, S., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S., Austin, C., Draghia-Akli, R., Weeramanthri, Tarun, Molster, C., and Dawkins, Hugh

Abstract

© Springer International Publishing AG 2017. Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care. In the rare diseases field, the vast majority of diseases are caused by destructive but previously difficult to identify protein-coding gene mutations. The reduction in cost of genetic testing and advances in the clinical use of genome sequencing, data science and imaging are converging to provide more precise understandings of the ‘person-time-place’ triad. That is: who is affected (people); when the disease is occurring (time); and where the disease is occurring (place). Consequently we are witnessing a paradigm shift in public health policy and practice towards ‘precision public health’. Patient and stakeholder engagement has informed the need for a national public health policy framework for rare diseases. The engagement approach in different countries has produced highly comparable outcomes and objectives. Knowledge and experience sharing across the international rare diseases networks and partnerships has informed the development of the Western Australian Rare Diseases Strategic Framework 2015?2018 (RD Framework) and Australian government health briefings on the need for a National plan. The RD Framework is guiding the translation of genomic and other technologies into the Western Australian health system, leading to greater precision in diagnostic pathways and care, and is an example of how a precision public health framework can improve health outcomes for the rare diseases population. Five vign

Published
2017

9. Initiating an undiagnosed diseases program in the Western Australian public health system

Author

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, Petra, Palmer, R., Kung, S., Walker, C., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M., Mattick, J., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P., Daly, F., Weeramanthri, T., Dawkins, H., Goldblatt, J., Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, Petra, Palmer, R., Kung, S., Walker, C., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M., Mattick, J., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P., Daly, F., Weeramanthri, T., Dawkins, H., and Goldblatt, J.

Abstract

Background: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program-Western Australia (UDP-WA). Results: Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. Conclusion: The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those w

Published
2017

10. The ASY-EOS Experiment at GSI

Author

Russotto, Paolo, Chartier, Marielle, Cozma, Mircea Dan, De Filippo, Enrico, Le Fèvre, Arnaud, Gannon, S., Gašparić, Igor, Kis, M., Kupny, S., Leifels, Yvonne, Lemmon, Roy Crawford, Li, Q., Lukasik, J., Marini, P., Pawlowski, P., Trautmann, Wolfgang, Acosta, L., Adamczyk, M., Al-Ajlan, A., Al-Garawi, M., Al-Homaidhi, S., Amorini, Francesca, Auditore, Lucrezia, Aumann, Thomas, Ayyad, Y., Baran, V., Basrak, Z., Bassini, R., Benlliure Anaya, Jose Fernando, Boiano, Ciro, Boisjoli, M., Boretzky, Konstanze, Brzychczyk, Janusz, Budzanowski, Andrzej, Cardella, Giuseppe, Chajecki, Zbigniew, Chbihi, A., Colonna, Maria, Czech, Bronislaw, Di Toro, Massimo, Famiano, Michael A., Greco, V., Grassi, L., Guazzoni, Chiara, Guazzoni, P., Heil, Michael, Heilborn, L., Introzzi, Riccardo, Isobe, Tadaaki, Kezzar, K., Krasznahorkay, Attila, Kurz, Nikolaus, La Guidara, E., Lanzalone, Gaetano, Lasko, P., Lombardo, Ivano, Lynch, William G., Matthews, Z., May, L., Minniti, T., Mostazo, M., Pagano, A., Papa, M., Pirrone, Sara, Pleskac, Radek, Politi, Giuseppe, Porto, Francesco, Reifarth, René, Reisdorf, Willibrord, Riccio, F., Rizzo, Francesca, Rosato, E., Rossi, Dominic M., Santoro, S., Simon, Haik, Skwirczynska, I., Sosin, Zbigniew, Stuhl, László, Trifirò, Antonio, Trimarchi, Marina, Tsang, M. Betty, Verde, Giuseppe, Veselsky, M., Vigilante, Mariano, Wieloch, A., Wigg, P., Wolter, Hermann, Wu, P., Yennello, Sherry J., Zambon, P., Zetta, L., Zoric, Maja, Russotto, Paolo, Chartier, Marielle, Cozma, Mircea Dan, De Filippo, Enrico, Le Fèvre, Arnaud, Gannon, S., Gašparić, Igor, Kis, M., Kupny, S., Leifels, Yvonne, Lemmon, Roy Crawford, Li, Q., Lukasik, J., Marini, P., Pawlowski, P., Trautmann, Wolfgang, Acosta, L., Adamczyk, M., Al-Ajlan, A., Al-Garawi, M., Al-Homaidhi, S., Amorini, Francesca, Auditore, Lucrezia, Aumann, Thomas, Ayyad, Y., Baran, V., Basrak, Z., Bassini, R., Benlliure Anaya, Jose Fernando, Boiano, Ciro, Boisjoli, M., Boretzky, Konstanze, Brzychczyk, Janusz, Budzanowski, Andrzej, Cardella, Giuseppe, Chajecki, Zbigniew, Chbihi, A., Colonna, Maria, Czech, Bronislaw, Di Toro, Massimo, Famiano, Michael A., Greco, V., Grassi, L., Guazzoni, Chiara, Guazzoni, P., Heil, Michael, Heilborn, L., Introzzi, Riccardo, Isobe, Tadaaki, Kezzar, K., Krasznahorkay, Attila, Kurz, Nikolaus, La Guidara, E., Lanzalone, Gaetano, Lasko, P., Lombardo, Ivano, Lynch, William G., Matthews, Z., May, L., Minniti, T., Mostazo, M., Pagano, A., Papa, M., Pirrone, Sara, Pleskac, Radek, Politi, Giuseppe, Porto, Francesco, Reifarth, René, Reisdorf, Willibrord, Riccio, F., Rizzo, Francesca, Rosato, E., Rossi, Dominic M., Santoro, S., Simon, Haik, Skwirczynska, I., Sosin, Zbigniew, Stuhl, László, Trifirò, Antonio, Trimarchi, Marina, Tsang, M. Betty, Verde, Giuseppe, Veselsky, M., Vigilante, Mariano, Wieloch, A., Wigg, P., Wolter, Hermann, Wu, P., Yennello, Sherry J., Zambon, P., Zetta, L., and Zoric, Maja

Abstract

The elliptic-flow ratio of neutrons with respect to protons or light complex particles in reactions of heavy ions at pre-relativistic energies has been proposed as an observable sensitive to the strength of the symmetry term of the nuclear equation of state at supra-saturation densities. In the ASY-EOS experiment at the GSI laboratory, flows of neutrons and light charged particles were measured for 197Au+197Au collisions at 400 MeV/nucleon. Flow results obtained for the Au+Au system, in comparison with predictions of the UrQMD transport model, confirm the moderately soft to linear density dependence of the symmetry energy deduced from the earlier FOPI-LAND data.

Published
2016

11. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Author

Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., Gahl, W.A., Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., and Gahl, W.A.

Abstract

In 2008, the National Institutes of Health's (NIH) Undiagnosed Disease Program (UDP) was initiated to provide diagnoses for individuals who had long sought one without success. As a result of two international conferences (Rome 2014 and Budapest 2015), the Undiagnosed Diseases Network International (UDNI) was established, modeled in part after the NIH UDP. Undiagnosed diseases are a global health issue, calling for an international scientific and healthcare effort. To meet this demand, the UDNI has built a consensus framework of principles, best practices and governance; the Board of Directors reflects its international character, as it includes experts from Australia, Canada, Hungary, Italy, Japan and the USA. The UDNI involves centers with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis. Consequently, the UDNI fosters the translation of research into medical practice. Active patient involvement is critical; the Patient Advisory Group is expected to play an increasing role in UDNI activities. All information for physicians and patients will be available at the UDNI website.

Published
2015

12. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Author

Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., Gahl, W.A., Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., and Gahl, W.A.

Abstract

In 2008, the National Institutes of Health's (NIH) Undiagnosed Disease Program (UDP) was initiated to provide diagnoses for individuals who had long sought one without success. As a result of two international conferences (Rome 2014 and Budapest 2015), the Undiagnosed Diseases Network International (UDNI) was established, modeled in part after the NIH UDP. Undiagnosed diseases are a global health issue, calling for an international scientific and healthcare effort. To meet this demand, the UDNI has built a consensus framework of principles, best practices and governance; the Board of Directors reflects its international character, as it includes experts from Australia, Canada, Hungary, Italy, Japan and the USA. The UDNI involves centers with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis. Consequently, the UDNI fosters the translation of research into medical practice. Active patient involvement is critical; the Patient Advisory Group is expected to play an increasing role in UDNI activities. All information for physicians and patients will be available at the UDNI website.

Published
2015

13. Relationship between genome and epigenome - challenges and requirements for future research

Author

Almouzni, G, Altucci, L, Amati, B, Ashley, N, Baulcombe, D, Beaujean, N, Bock, C, Bongcam-Rudloff, E, Bousquet, J, Braun, S, Paillerets Brigitte, B, Bussemakers, M, Clarke, L, Conesa, A, Estivill, X, Fazeli, A, Grgurevic, N, Gut, I, Heijmans Bastiaan, T, Hermouet, S, Houwing-Duistermaat, J, Iacobucci, I, Ilas, J, Kandimalla, R, Krauss-Etschmann, S, Lasko, P, Lehmann, S, Lindroth, A, Majdic, G, Marcotte, E, Martinelli, G, Martinet, N, Meyer, E, Miceli, C, Mills, K, Moreno-Villanueva, M, Morvan, G, Nickel, D, Niesler, B, Nowacki, M, Nowak, J, Ossowski, S, Pelizzola, M, Pochet, R, Potocnik, U, Radwanska, M, Raes, J, Rattray, M, Robinson Mark, D, Roelen, B, Sauer, S, Schinzer, D, Slagboom, E, Spector, T, Stunnenberg Hendrik, G, Tiligada, E, Torres-Padilla, M, Tsonaka, R, Soom Ann, V, Vidakovic, M, Widschwendter, M, Almouzni Genevieve, Altucci Lucia, Amati Bruno, Ashley Neil, Baulcombe David, Beaujean Nathalie, Bock Christoph, Bongcam-Rudloff Erik, Bousquet Jean, Braun Sigurd, Paillerets Brigitte Bressac-de, Bussemakers Marion, Clarke Laura, Conesa Ana, Estivill Xavier, Fazeli Alireza, Grgurevic NeZa, Gut Ivo, Heijmans Bastiaan T, Hermouet Sylvie, Houwing-Duistermaat Jeanine, Iacobucci Ilaria, Ilas Janez, Kandimalla Raju, Krauss-Etschmann Susanne, Lasko Paul, Lehmann Soren, Lindroth Anders, Majdic Gregor, Marcotte Eric, Martinelli Giovanni, Martinet Nadine, Meyer Eric, Miceli Cristina, Mills Ken, Moreno-Villanueva Maria, Morvan Ghislaine, Nickel Dorthe, Niesler Beate, Nowacki Mariusz, Nowak Jacek, Ossowski Stephan, Pelizzola M, Pochet Roland, Potocnik Uros, Radwanska Magdalena, Raes Jeroen, Rattray Magnus, Robinson Mark D, Roelen Bernard, Sauer Sascha, Schinzer Dieter, Slagboom Eline, Spector Tim, Stunnenberg Hendrik G, Tiligada Ekaterini, Torres-Padilla Maria-Elena, Tsonaka Roula, Soom Ann Van, Vidakovic Melita, Widschwendter Martin, Almouzni, G, Altucci, L, Amati, B, Ashley, N, Baulcombe, D, Beaujean, N, Bock, C, Bongcam-Rudloff, E, Bousquet, J, Braun, S, Paillerets Brigitte, B, Bussemakers, M, Clarke, L, Conesa, A, Estivill, X, Fazeli, A, Grgurevic, N, Gut, I, Heijmans Bastiaan, T, Hermouet, S, Houwing-Duistermaat, J, Iacobucci, I, Ilas, J, Kandimalla, R, Krauss-Etschmann, S, Lasko, P, Lehmann, S, Lindroth, A, Majdic, G, Marcotte, E, Martinelli, G, Martinet, N, Meyer, E, Miceli, C, Mills, K, Moreno-Villanueva, M, Morvan, G, Nickel, D, Niesler, B, Nowacki, M, Nowak, J, Ossowski, S, Pelizzola, M, Pochet, R, Potocnik, U, Radwanska, M, Raes, J, Rattray, M, Robinson Mark, D, Roelen, B, Sauer, S, Schinzer, D, Slagboom, E, Spector, T, Stunnenberg Hendrik, G, Tiligada, E, Torres-Padilla, M, Tsonaka, R, Soom Ann, V, Vidakovic, M, Widschwendter, M, Almouzni Genevieve, Altucci Lucia, Amati Bruno, Ashley Neil, Baulcombe David, Beaujean Nathalie, Bock Christoph, Bongcam-Rudloff Erik, Bousquet Jean, Braun Sigurd, Paillerets Brigitte Bressac-de, Bussemakers Marion, Clarke Laura, Conesa Ana, Estivill Xavier, Fazeli Alireza, Grgurevic NeZa, Gut Ivo, Heijmans Bastiaan T, Hermouet Sylvie, Houwing-Duistermaat Jeanine, Iacobucci Ilaria, Ilas Janez, Kandimalla Raju, Krauss-Etschmann Susanne, Lasko Paul, Lehmann Soren, Lindroth Anders, Majdic Gregor, Marcotte Eric, Martinelli Giovanni, Martinet Nadine, Meyer Eric, Miceli Cristina, Mills Ken, Moreno-Villanueva Maria, Morvan Ghislaine, Nickel Dorthe, Niesler Beate, Nowacki Mariusz, Nowak Jacek, Ossowski Stephan, Pelizzola M, Pochet Roland, Potocnik Uros, Radwanska Magdalena, Raes Jeroen, Rattray Magnus, Robinson Mark D, Roelen Bernard, Sauer Sascha, Schinzer Dieter, Slagboom Eline, Spector Tim, Stunnenberg Hendrik G, Tiligada Ekaterini, Torres-Padilla Maria-Elena, Tsonaka Roula, Soom Ann Van, Vidakovic Melita, and Widschwendter Martin

Abstract

Understanding the links between genetic, epigenetic and non-genetic factors throughout the lifespan and across generations and their role in disease susceptibility and disease progression offer entirely new avenues and solutions to major problems in our society. To overcome the numerous challenges, we have come up with nine major conclusions to set the vision for future policies and research agendas at the European level.

Published
2014

14. New detector system for super heavy elements detection

Author

Wieloch, Andrzej, Sosin, Zbigniew, Bańka, P., Gonciarz, Anna, Péter, Jean, Drouart, A., Dayras, Roland, Łojek, Konrad, Stodel, Ch, Adamczyk, Małgorzata, Avez, Benoît, Lasko, P., Zosiak, Lukasz, Kozik, Tomáš, Alamanos, Nicolas, Gillibert, A., Grévy, Stéphane, Hanappe, Francis, Hannachi, Fazia, Hue, R., Khouaja, A., Lopez-Martens, A., Manduci, L., de Oliveira Santos, François, Politi, Grazia, Saint-Laurent, Marie Genevieve, Stuttge, Louise, Vandamme, Ch, Wieleczko, J.P., Piasecki, Ernest, Trzcińska, Agnieszka, Gawlikowicz, Wojtek, Kisielewski, M., Kowalczyk, Maciej, Kordyasz, Andrzej, Bocki, J., Wieloch, Andrzej, Sosin, Zbigniew, Bańka, P., Gonciarz, Anna, Péter, Jean, Drouart, A., Dayras, Roland, Łojek, Konrad, Stodel, Ch, Adamczyk, Małgorzata, Avez, Benoît, Lasko, P., Zosiak, Lukasz, Kozik, Tomáš, Alamanos, Nicolas, Gillibert, A., Grévy, Stéphane, Hanappe, Francis, Hannachi, Fazia, Hue, R., Khouaja, A., Lopez-Martens, A., Manduci, L., de Oliveira Santos, François, Politi, Grazia, Saint-Laurent, Marie Genevieve, Stuttge, Louise, Vandamme, Ch, Wieleczko, J.P., Piasecki, Ernest, Trzcińska, Agnieszka, Gawlikowicz, Wojtek, Kisielewski, M., Kowalczyk, Maciej, Kordyasz, Andrzej, and Bocki, J.

Abstract

A new detector system dedicated for very/super heavy elements (VHE/SHE) detection that decay by spontaneous fission is presented. Such a decay mode of nuclei can be found e.g. in the region of Z≈100 (Fermium). Future experiments realized in the frame of French-Polish collaboration at the cyclotrons in GANIL and in the Heavy Ion Laboratory (HIL), University of Warsaw, is described. The results of test measurements made in the HIL for reactions 20Ne(8 A.MeV)+120Sn, 179Au are presented. © 2010 World Scientific Publishing Company., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2010

15. New detector system for super heavy elements detection

Author

Wieloch, Andrzej, Sosin, Zbigniew, Bańka, P., Gonciarz, Anna, Péter, Jean, Drouart, A., Dayras, Roland, Łojek, Konrad, Stodel, Ch, Adamczyk, Małgorzata, Avez, Benoît, Lasko, P., Zosiak, Lukasz, Kozik, Tomáš, Alamanos, Nicolas, Gillibert, A., Grévy, Stéphane, Hanappe, Francis, Hannachi, Fazia, Hue, R., Khouaja, A., Lopez-Martens, A., Manduci, L., de Oliveira Santos, François, Politi, Grazia, Saint-Laurent, Marie Genevieve, Stuttge, Louise, Vandamme, Ch, Wieleczko, J.P., Piasecki, Ernest, Trzcińska, Agnieszka, Gawlikowicz, Wojtek, Kisielewski, M., Kowalczyk, Maciej, Kordyasz, Andrzej, Bocki, J., Wieloch, Andrzej, Sosin, Zbigniew, Bańka, P., Gonciarz, Anna, Péter, Jean, Drouart, A., Dayras, Roland, Łojek, Konrad, Stodel, Ch, Adamczyk, Małgorzata, Avez, Benoît, Lasko, P., Zosiak, Lukasz, Kozik, Tomáš, Alamanos, Nicolas, Gillibert, A., Grévy, Stéphane, Hanappe, Francis, Hannachi, Fazia, Hue, R., Khouaja, A., Lopez-Martens, A., Manduci, L., de Oliveira Santos, François, Politi, Grazia, Saint-Laurent, Marie Genevieve, Stuttge, Louise, Vandamme, Ch, Wieleczko, J.P., Piasecki, Ernest, Trzcińska, Agnieszka, Gawlikowicz, Wojtek, Kisielewski, M., Kowalczyk, Maciej, Kordyasz, Andrzej, and Bocki, J.

Abstract

A new detector system dedicated for very/super heavy elements (VHE/SHE) detection that decay by spontaneous fission is presented. Such a decay mode of nuclei can be found e.g. in the region of Z≈100 (Fermium). Future experiments realized in the frame of French-Polish collaboration at the cyclotrons in GANIL and in the Heavy Ion Laboratory (HIL), University of Warsaw, is described. The results of test measurements made in the HIL for reactions 20Ne(8 A.MeV)+120Sn, 179Au are presented. © 2010 World Scientific Publishing Company., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2010

16. Gas scintillation chamber for superheavy elements detection at GANIL

Author

Sosin, Zbigniew, Wieloch, Andrzej, Łojek, Konrad, Adamczyk, Mariusz, Gonciarz, Anna, Bańka, P., Lasko, P., Zosiak, Lukasz, Péter, Jean, Amar, N, Angélique, Jean Claude, Fontbonne, Jean Marc, Grévy, Stéphane, Legou, Th, Liénard, Etienne, Manduci, L., Tillier, Joel, Drouart, A., Dayras, Roland, Alamanos, Nicolas, Gillibert, A., Stodel, Ch, Anne, Rémy, Auger, Gérard, Hue, R., Khouaja, A., Santos, De, Saint-Laurent, Marie Genevieve, De Tourreil, Roland, Villari, Antonio C C, Wieleczko, J.P., Hanappe, Francis, Hannachi, Fazia, Lopez-Martens, A., Politi, Grazia, Stuttge, Louise, Sosin, Zbigniew, Wieloch, Andrzej, Łojek, Konrad, Adamczyk, Mariusz, Gonciarz, Anna, Bańka, P., Lasko, P., Zosiak, Lukasz, Péter, Jean, Amar, N, Angélique, Jean Claude, Fontbonne, Jean Marc, Grévy, Stéphane, Legou, Th, Liénard, Etienne, Manduci, L., Tillier, Joel, Drouart, A., Dayras, Roland, Alamanos, Nicolas, Gillibert, A., Stodel, Ch, Anne, Rémy, Auger, Gérard, Hue, R., Khouaja, A., Santos, De, Saint-Laurent, Marie Genevieve, De Tourreil, Roland, Villari, Antonio C C, Wieleczko, J.P., Hanappe, Francis, Hannachi, Fazia, Lopez-Martens, A., Politi, Grazia, and Stuttge, Louise

Abstract

In the paper we present scintillation-ionization detector (SID) - a new device for support of the superheavy elements (SHE) identification in the standard, complete fusion methods. We highlight problems with background effects in SHE production and their minimization by introducing SID to the detection set-up at GANIL. We also point possible application of this detector in alternative approach for superheavy elements production., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2009

17. Gas scintillation chamber for superheavy elements detection at GANIL

Author

Sosin, Zbigniew, Wieloch, Andrzej, Łojek, Konrad, Adamczyk, Mariusz, Gonciarz, Anna, Bańka, P., Lasko, P., Zosiak, Lukasz, Péter, Jean, Amar, N, Angélique, Jean Claude, Fontbonne, Jean Marc, Grévy, Stéphane, Legou, Th, Liénard, Etienne, Manduci, L., Tillier, Joel, Drouart, A., Dayras, Roland, Alamanos, Nicolas, Gillibert, A., Stodel, Ch, Anne, Rémy, Auger, Gérard, Hue, R., Khouaja, A., Santos, De, Saint-Laurent, Marie Genevieve, De Tourreil, Roland, Villari, Antonio C C, Wieleczko, J.P., Hanappe, Francis, Hannachi, Fazia, Lopez-Martens, A., Politi, Grazia, Stuttge, Louise, Sosin, Zbigniew, Wieloch, Andrzej, Łojek, Konrad, Adamczyk, Mariusz, Gonciarz, Anna, Bańka, P., Lasko, P., Zosiak, Lukasz, Péter, Jean, Amar, N, Angélique, Jean Claude, Fontbonne, Jean Marc, Grévy, Stéphane, Legou, Th, Liénard, Etienne, Manduci, L., Tillier, Joel, Drouart, A., Dayras, Roland, Alamanos, Nicolas, Gillibert, A., Stodel, Ch, Anne, Rémy, Auger, Gérard, Hue, R., Khouaja, A., Santos, De, Saint-Laurent, Marie Genevieve, De Tourreil, Roland, Villari, Antonio C C, Wieleczko, J.P., Hanappe, Francis, Hannachi, Fazia, Lopez-Martens, A., Politi, Grazia, and Stuttge, Louise

Abstract

In the paper we present scintillation-ionization detector (SID) - a new device for support of the superheavy elements (SHE) identification in the standard, complete fusion methods. We highlight problems with background effects in SHE production and their minimization by introducing SID to the detection set-up at GANIL. We also point possible application of this detector in alternative approach for superheavy elements production., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2009

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