Search

Your search keyword '"Posada-de La Paz, Manuel"' showing total 430 results
Start Over Author "Posada-de La Paz, Manuel"

Refine your results

more »

more »

more »

more »

more »
430 results on '"Posada-de La Paz, Manuel"'

1. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Author

Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, and Nordgren, Ann

Published
2024
Full Text
View/download PDF

3. Determinants of Satisfaction with the Detection Process of Autism in Europe: Results from the ASDEU Study

Author

Guillon, Quentin, Baduel, Sophie, Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, MagÁn-Maganto, María, FernÁndez-Álvarez, Clara, Martín-Cilleros, María Victoria, SÁnchez-Gómez, María Cruz, García-Primo, Patricia, Rose-Sweeney, Mary, Boilson, Andrew, Linertova, Renata, Roeyers, Herbert, Van der Paelt, Sara, Schendel, Diana, Warberg, Christine Kloster, Cramer, Susanne, Narzisi, Antonio, Muratori, Filippo, Scattoni, María Luisa, Moilanen, Irma, Yliherva, Anneli, Saemundsen, Evald, Jonsdottir, Sigridur Loa, Efrim-Budisteanu, Magdalena, Arghir, Aurora, Papuc, Sorina Mihaela, Vicente, Astrid, Rasga, Celia, Xenia Kafka, Johanna, Poustka, Luise, Kothgassner, Oswald D., Kawa, Rafal, Pisula, Ewa, Sellers, Tracey, Posada de la Paz, Manuel, and Rogé, Bernadette

Abstract

Satisfaction with the detection process of autism and its determinants was investigated using data from the Autism Spectrum Disorder in the European Union (2015-2018) network. A total of 1342 family members, including 1278 parents, completed an online survey collecting information about their experience and satisfaction with the early detection of autism in their child. Overall, the level of satisfaction varied considerably from one respondent to another. Difficulty in finding information about detection services, lack of professional guidance and support in response to first concerns, finding a diagnostic service on one's own, and a delay of more than 4 months between the confirmation of concerns and the first appointment with a specialist were all experiences individually associated with greater odds of being less satisfied. Using a dominance analysis approach, we further identified professional guidance and support in response to first concerns as the most important predictor of the level of satisfaction. These findings highlight the aspects of the process that need to be improved to enhance the experience of the detection process and are therefore relevant to guide health administrations toward actions to be implemented to this effect.

Published
2022
Full Text
View/download PDF

4. Effect of a Focused Social and Communication Intervention on Preterm Children with ASD: A Pilot Study

Author

Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, Magán-Maganto, María, Hernández Fabián, Aránzazu, Calvarro Castañeda, Andrea Luz, Manso de Dios, Sara, Malmierca García, Patricia, Díez Villoria, Emiliano, Jenaro Río, Cristina, and Posada de la Paz, Manuel

Abstract

While advances in intensive neonatal care have greatly improved survival rates among preterm infants, incidence of neurodevelopmental disorders in this group is still high, with autism spectrum disorder (ASD) being one of the most frequent. To this end, we conducted a social-communication intervention aimed at investigating efficacy in social-communicative skills. Eighteen children (preterm and full-term with ASD and preterm children) aged 18 through 20 months participated in the study. Our findings indicate that most participants in the intervention groups registered significant improvements in terms of socio-communicative skills, cognitive development, and language. Accordingly, these pilot data underscore the need for further research and implementation of early interventions in young preterm children with ASD.

Published
2022
Full Text
View/download PDF

6. Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives

Author

Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, Magán-Maganto, María, Fernández-Álvarez, Clara, Cilleros-Martín, María Victoria, Sánchez-Gómez, María Cruz, García-Primo, Patricia, Rose-Sweeney, Mary, Boilson, Andrew, Linertová, Renata, Roeyers, Herbert, Van der Paelt, Sara, Schendel, Diana, Warberg, Christine, Cramer, Susanne, Narzisi, Antonio, Muratori, Filippo, Scattoni, María Luisa, Moilanen, Irma, Yliherva, Anneli, Saemundsen, Evald, Loa Jónsdóttir, Sigríður, Efrim-Budisteanu, Magdalena, Arghir, Aurora, Papuc, Sorina Mihaela, Vicente, Astrid, Rasga, Celia, Rogé, Bernadette, Guillon, Quentin, Baduel, Sophie, Kafka, Johanna Xenia, Poustka, Luise, Kothgassner, Oswald D., Kawa, Rafal, Pisula, Ewa, Sellers, Tracey, and Posada de la Paz, Manuel

Abstract

Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents' opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child's age, delays in accessing services, and active stakeholders' participation when looking to improve services.

Published
2020
Full Text
View/download PDF

7. Spanish Cultural Validation of the Modified Checklist for Autism in Toddlers, Revised

Author

Magán-Maganto, María, Canal-Bedia, Ricardo, Hernández-Fabián, Aránzazu, Bejarano-Martín, Álvaro, Fernández-Álvarez, Clara J., Martínez-Velarte, María, Martín-Cilleros, Maria V., Flores-Robaina, Noelia, Roeyers, Herbert, and Posada de la Paz, Manuel

Abstract

The Modified Checklist for Autism in Toddlers-revised/follow-up (M-CHAT-R/F) was developed to reduce the number of cases requiring telephone verification. The aim of this study was to validate a Spanish version of the M-CHAT-R/F in the Spanish public health system. The M-CHAT-R/F was translated, culturally adapted, and then administered to 6625 children. Of the 39 positive screening cases, 15 children were diagnosed with autism spectrum disorder (ASD) and 24 with non-ASD disorders or delays. The sensitivity was 0.79 and specificity of 0.99. Positive and negative predictive values were 0.39 and 0.99, respectively. These results are similar to the English equivalent, though observed prevalence was lower. This study supports Spanish National Health System policy makers to consider a universal ASD screening program.

Published
2020
Full Text
View/download PDF

12. Schooling of Children with Rare Diseases and Disability in Europe

Author

Linertová, Renata, González-Guadarrama, Javier, Serrano-Aguilar, Pedro, Posada-De-la-Paz, Manuel, Péntek, Márta, Iskrov, Georgi, and Ballester, Marta

Abstract

Inclusive education of disabled students has been promoted in European disability policies. However, the transition process from more segregated system is slow. The purpose of this study was to provide an insight about different types of schooling of disabled children affected by a rare disease across Europe and to evaluate their and caregivers' well-being. We analysed data from a cross-sectional study (BURQOL-RD) of persons with rare diseases that cause intellectual and/or physical disability: Prader-Willi syndrome, fragile X syndrome, three types of mucopolysaccharidosis and Duchenne muscular dystrophy. The sample consisted of 359 children aged 6-17 and 269 caregivers from eight European countries. Results showed differences between countries in proportion of students placed in special schools, which are still valid option in countries such as Germany, France or UK. Within the inclusive education modalities, lack of special support for disabled students was observed especially in low-income countries. No association between the type of schooling and quality of life was observed, but the subjective caregivers' burden seems to be higher in special schools. The study shows existent differences in implementation of inclusive education in Europe. More research is needed in the field of rare disease disability and educational needs.

Published
2019
Full Text
View/download PDF

13. Spanish multidisciplinary clinical practice guidelines for Anderson–Fabry disease in adults. I. Method and recommendations

Author

Calderón Sandubete, E.J., Briones Pérez de la Blanca, E., Alonso-Ortiz del Río, C., Santamaría Olmo, R., López Mendoza, M., Barcos Martínez, M., Márquez Infante, C., Marín-León, I., Posada de la Paz, Manuel, Castellano, Pilar Giraldo, Blanes, Juan Ramón Gimeno, Navarro, Encarnación Guillén, Rodríguez, Mónica López, Arduán, Alberto Ortiz, Guzmán, Jaime Díaz, Martínez, Paz Latre, Villalba, Jordi Cruz, and Pérez, José María Carrión

Published
2019
Full Text
View/download PDF

14. Preparing for the Future of Rare Diseases

Author

Groft, Stephen C., Posada de la Paz, Manuel, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

15. Congenital Anomalies: Cluster Detection and Investigation

Author

Bermejo-Sánchez, Eva, Posada de la Paz, Manuel, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

16. Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe

Author

Arias Merino, Greta, Sánchez Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso Ferreira, Verónica, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

17. Data Quality in Rare Diseases Registries

Author

Kodra, Yllka, Posada de la Paz, Manuel, Coi, Alessio, Santoro, Michele, Bianchi, Fabrizio, Ahmed, Faisal, Rubinstein, Yaffa R., Weinbach, Jérôme, Taruscio, Domenica, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

18. Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER

Author

Rubinstein, Yaffa R., Posada de la Paz, Manuel, Mora, Marina, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

19. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Author

Baynam, Gareth, Bowman, Faye, Lister, Karla, Walker, Caroline E., Pachter, Nicholas, Goldblatt, Jack, Boycott, Kym M., Gahl, William A., Kosaki, Kenjiro, Adachi, Takeya, Ishii, Ken, Mahede, Trinity, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Groza, Tudor, Zankl, Andreas, Robinson, Peter N., Haendel, Melissa, Brudno, Michael, Mattick, John S., Dinger, Marcel E., Roscioli, Tony, Cowley, Mark J., Olry, Annie, Hanauer, Marc, Alkuraya, Fowzan S., Taruscio, Domenica, Posada de la Paz, Manuel, Lochmüller, Hanns, Bushby, Kate, Thompson, Rachel, Hedley, Victoria, Lasko, Paul, Mina, Kym, Beilby, John, Tifft, Cynthia, Davis, Mark, Laing, Nigel G., Julkowska, Daria, Le Cam, Yann, Terry, Sharon F., Kaufmann, Petra, Eerola, Iiro, Norstedt, Irene, Rath, Ana, Suematsu, Makoto, Groft, Stephen C., Austin, Christopher P., Draghia-Akli, Ruxandra, Weeramanthri, Tarun S., Molster, Caron, Dawkins, Hugh J. S., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
Full Text
View/download PDF

22. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Author

Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, and Balcells, Susanna

Published
2020
Full Text
View/download PDF

23. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Author

Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, and Taruscio, Domenica

Published
2018
Full Text
View/download PDF

25. Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe

Author

BURQOL-RD Research Network, Cavazza, Marianna, Kodra, Yllka, Armeni, Patrizio, De Santis, Marta, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Péntek, Márta, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, and Fattore, Giovanni

Published
2016

27. Social/economic costs and health-related quality of life in patients with histiocytosis in Europe

Author

BURQOL-RD Research Network, Iskrov, Georgi, Astigarraga, Itziar, Stefanov, Rumen, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Schieppati, Arrigo, Taruscio, Domenica, Péntek, Márta, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, and Fattore, Giovanni

Published
2016

30. Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

Author

BURQOL-RD Research Network, Péntek, Márta, Gulácsi, László, Brodszky, Valentin, Baji, Petra, Boncz, Imre, Pogány, Gábor, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Iskrov, Georgi, Schieppati, Arrigo, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, and Fattore, Giovanni

Published
2016

31. Social/economic costs and quality of life in patients with haemophilia in Europe

Author

BURQOL-RD Research Network, Cavazza, Marianna, Kodra, Yllka, Armeni, Patrizio, De Santis, Marta, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Gulácsi, László, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, and Fattore, Giovanni

Published
2016

34. Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives

Author

Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, Magán-Maganto, María, Fernández-Álvarez, Clara, Martín-Cilleros, María Victoria, Sánchez-Gómez, María Cruz, García-Primo, Patricia, Rose-Sweeney, Mary, Boilson, Andrew, Linertová, Renata, Roeyers, Herbert, Van der Paelt, Sara, Schendel, Diana, Warberg, Christine, Cramer, Susanne, Narzisi, Antonio, Muratori, Filippo, Scattoni, María Luisa, Moilanen, Irma, Yliherva, Anneli, Saemundsen, Evald, Loa Jónsdóttir, Sigríður, Efrim-Budisteanu, Magdalena, Arghir, Aurora, Papuc, Sorina Mihaela, Vicente, Astrid, Rasga, Celia, Rogé, Bernadette, Guillon, Quentin, Baduel, Sophie, Kafka, Johanna Xenia, Poustka, Luise, Kothgassner, Oswald D., Kawa, Rafal, Pisula, Ewa, Sellers, Tracey, and Posada de la Paz, Manuel

Published
2020
Full Text
View/download PDF

36. Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross‐sectional study

Author

Magán‐Maganto, María, primary, Canal‐Bedia, Ricardo, additional, Bejarano‐Martín, Álvaro, additional, Martín‐Cilleros, Maria Victoria, additional, Hernández‐Fabián, Aránzazu, additional, Calvarro‐Castañeda, Andrea Luz, additional, Roeyers, Herbert, additional, Jenaro‐Río, Cristina, additional, and Posada de la Paz, Manuel, additional

Published
2023
Full Text
View/download PDF

38. Nuevas perspectivas sobre el Problema de la Unidad Espacial Modificable (PUEM) en relación con la representación cartográfica de enfermedades raras

Author

Sánchez-Díaz, Germán, Alonso-Ferreira, Verónica, Posada de la Paz, Manuel, and Escobar, Francisco

Subjects
Geography (General), G1-922
Abstract

En el marco del análisis espacio-temporal de la Enfermedades Raras (ER) en España, los efectos derivados del Problema de la Unidad Espacial Modificable (PUEM) condicionan la interpretación de los resultados. Este estudio tiene como objetivo comparar indicadores de mortalidad y visualización cartográfica para recomendar la unidad geográfica de trabajo óptima según población, área cubierta y el número de casos de la enfermedad. Se estudiaron los fallecimientos debidos a una ER (Huntington) en tres niveles de agregación espacial; el municipio, la comarca y la provincia. Se diseñó una ratio de adyacencia para observar el efecto de las relaciones de vecindad entre las tres unidades administrativas tratadas. Se calcularon indicadores epidemiológicos de mortalidad, así como indicadores locales de asociación espacial en cada nivel de agregación. Los resultados se representaron cartográficamente utilizando intervalos definidos por el usuario para comparar de forma visual las diferencias estadísticas y cartográficas. El PUEM fue particularmente visible trabajando con datos agregados de ER. Las comarcas representaron el mayor nivel de estabilidad en la ratio de adyacencia así como la unidad geográfica óptima en términos de resolución espacial y variabilidad de la información representada cartográficamente. Este proceso de ayuda en la elección de la escala de trabajo puede ser extrapolado a otras enfermedades o niveles de agregación, como paso previo a análisis epidemiológicos más avanzados.

Published
2020
Full Text
View/download PDF

41. Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe

Author

Angelis, Aris, Kanavos, Panos, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Brodszky, Valentin, von der Schulenburg, Johann Matthias Graf, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

42. Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe

Author

López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Posada-de-la-Paz, Manuel, Serrano-Aguilar, Pedro, Kanavos, Panos, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Baji, Petra, Delgado, Claudia, von der Schulenburg, Johann Matthias Graf, Persson, Ulf, Chevreul, Karine, Fattore, Giovanni, and The BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

43. Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

Author

Péntek, Márta, Gulácsi, László, Brodszky, Valentin, Baji, Petra, Boncz, Imre, Pogány, Gábor, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Iskrov, Georgi, Schieppati, Arrigo, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

45. Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe

Author

Chevreul, Karine, Gandré, Coralie, Brigham, Karen Berg, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Gulácsi, László, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Persson, Ulf, Fattore, Giovani, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

46. Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe

Author

Cavazza, Marianna, Kodra, Yllka, Armeni, Patrizio, De Santis, Marta, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Péntek, Márta, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

47. Social/economic costs and quality of life in patients with haemophilia in Europe

Author

Cavazza, Marianna, Kodra, Yllka, Armeni, Patrizio, De Santis, Marta, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Gulácsi, László, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

48. Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe

Author

Chevreul, Karine, Michel, Morgane, Brigham, Karen Berg, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Taruscio, Domenica, Schieppati, Arrigo, Iskrov, Georgi, Péntek, Márta, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Persson, Ulf, Fattore, Giovani, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

49. Social/economic costs and health-related quality of life in patients with histiocytosis in Europe

Author

Iskrov, Georgi, Astigarraga, Itziar, Stefanov, Rumen, López-Bastida, Julio, Linertová, Renata, Oliva-Moreno, Juan, Serrano-Aguilar, Pedro, Posada-de-la-Paz, Manuel, Schieppati, Arrigo, Taruscio, Domenica, Péntek, Márta, von der Schulenburg, Johann Matthias Graf, Kanavos, Panos, Chevreul, Karine, Persson, Ulf, Fattore, Giovanni, and BURQOL-RD Research Network

Published
2016
Full Text
View/download PDF

50. The RD-connect genome-phenome analysis platform: accelerating diagnosis, research, and gene discovery for rare diseases

Author

Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros-Facer, Virginie, Buske, Orion J, Cañada-Pallarés, Andrés, Fernández, José M, Hansson, Mats G, Horvath, Rita, Jacobsen, Julius O B, Kaliyaperumal, Rajaram, Lair-Préterre, Séverine, Licata, Luana, Lopes, Pedro, López-Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez-Jurado, Luis A, Posada De la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N, Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A C, Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G, Lochmüller, Hanns, Beltran, Sergi, Corvo, Alberto, Garcia, Carles, Fernandez‐Callejo, Marcos, Hernandez, Carles, Ntalis, Anastasios Papakonstantinou, Protassio, Joan, Martinez, Ines, Pico, Daniel, Bayes, Monica, Camps, Jordi, Trotta, Jean‐Remi, Bros‐Facer, Virginie, Buske, Orion, Cañada, Andrés, Fernandez, Josè Maria, Hansson, Mats, Jacobsen, Julius, Lair, Severine, López‐Martin, Estrella, Jurado, Luis Pérez, Posada, Manuel, Robinson, Peter, Spalding, Dylan J., 't Hoen, Peter‐Bram, Gut, Ivo, Lochmúller, Hanns, Universidad Pública de Navarra. Departamento de Ciencias de la Salud, Nafarroako Unibertsitate Publikoa. Osasun Zientziak Saila, Gobierno de Navarra / Nafarroako Gobernua, Laurie, Steven [0000-0003-3913-5829], Piscia, Davide [0000-0002-0468-0408], Matalonga, Leslie [0000-0003-0807-2570], Corvó, Alberto [0000-0003-0174-2818], Fernández-Callejo, Marcos [0000-0002-9968-3766], Garcia-Linares, Carles [0000-0002-0558-2498], Hernandez-Ferrer, Carles [0000-0002-8029-7160], Luengo, Cristina [0000-0003-1612-8706], Martínez, Inés [0000-0002-2062-3120], Papakonstantinou, Anastasios [0000-0003-4301-3859], Picó-Amador, Daniel [0000-0001-5254-2184], Protasio, Joan [0000-0001-6342-8096], Thompson, Rachel [0000-0002-6889-0121], Tonda, Raul [0000-0001-7893-2404], Bayés, Mònica [0000-0002-8271-3076], Bullich, Gemma [0000-0002-0737-4422], Camps-Puchadas, Jordi [0000-0001-8763-9947], Paramonov, Ida [0000-0001-8666-6054], Trotta, Jean-Rémi [0000-0001-9548-8165], Alonso, Angel [0000-0001-5111-310X], Attimonelli, Marcella [0000-0003-2091-8364], Béroud, Christophe [0000-0003-2986-8738], Buske, Orion J [0000-0002-9064-092X], Cañada-Pallarés, Andrés [0000-0003-1284-3737], Fernández, José M [0000-0002-4806-5140], Hansson, Mats G [0000-0002-4053-8468], Horvath, Rita [0000-0002-9841-170X], Jacobsen, Julius OB [0000-0002-3265-1591], Kaliyaperumal, Rajaram [0000-0002-1215-167X], Licata, Luana [0000-0001-5084-9000], Lopes, Pedro [0000-0001-5330-6562], López-Martín, Estrella [0000-0003-3212-1424], Mascalzoni, Deborah [0000-0003-4156-1464], Monaco, Lucia [0000-0001-5620-1790], Posada de la Paz, Manuel [0000-0002-8372-4180], Rambla, Jordi [0000-0001-9091-257X], Rath, Ana [0000-0003-4308-6337], Riess, Olaf [0000-0002-7011-1369], Robinson, Peter N [0000-0002-0736-9199], Smedley, Damian [0000-0002-5836-9850], Spalding, Dylan [0000-0002-4285-2493], 't Hoen, Peter AC [0000-0003-4450-3112], Töpf, Ana [0000-0002-9227-2526], Zaharieva, Irina [0000-0002-7663-6297], Graessner, Holm [0000-0001-9803-7183], Gut, Ivo G [0000-0001-7219-632X], Lochmüller, Hanns [0000-0003-2324-8001], Beltran, Sergi [0000-0002-2810-3445], Apollo - University of Cambridge Repository, Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformática (España), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Government of Catalonia (España), Gobierno de Navarra (España), NIH - National Institute of Child Health and Human Development (NICHD) (Estados Unidos), Ministerio de Economía, Industria y Competitividad (España), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), Canadian Institutes of Health Research, Canadia, Comunidad Foral de Navarra (España), European Reference Network for Rare Neurological Diseases (ERN-RND), Muscular Dystrophy Canada, Canada Foundation for Innovation, and Canada Research Chairs

Subjects
Settore BIO/18, data sharing, patient matchmaking, rare diseases, Genomics, Genome analysis, Rare diseases, Phenotype, Patient matchmaking, Data standardization, NGS, Genetics, diagnostics, Humans, Exome, Data sharing, data standardization, genome analysis, Medical Genetics, Diagnostics, Genetics (clinical), Genetic Association Studies, Medicinsk genetik
Abstract

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes. We acknowledge the support of the developers of PhenoTips, which was used in the past by RD-Connect and NeurOmics as the primary tool to collate phenotypic data. We would also like to thank the leaders and members of the Instituto Nacional de Bioinformática (INB) and ELIXIR for their support and collaboration throughout the years. RD-Connect (RD-Connect, an integrated platform connecting registries, biobanks, and clinical bioinformatics) received funding from the Seventh Framework (FP7) Programme of the European Union under grant agreement No 305444. Data were analyzed using the RD-Connect GPAP, which received funding from EU projects Solve-RD, EJP-RD (grant numbers H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB), ELIXIR-EXCELERATE (Grant number EU H2020 #676559) and ELIXIR Implementation Studies (Remote real-time visualization of human rare disease genomics data (RD-Connect) stored at the EGA ELIXIR. 2017-2018; ELIXIR IT-2017-INTEGRATION, Rare Disease Infrastructure ELIXIR, 2019-2020 and the Beacon ELIXIR, 2019-2021). The RD-Connect GPAP has leveraged developments funded through project VEIS (001-P-001647 co-financed by the European Regional Development Fund of the European Union in the framework of the Operational Program FEDER of Catalonia 2014-2020 with the support of the Secretaria d'Universitats i Recerca del Departament d'Empresa i Coneixement de la Generalitat de Catalunya) and URD-Cat (PERIS SLT002/16/00174, Departament de Salut, Generalitat de Catalunya). The research leading to these results has received funding from Consequitur (Newton Fund UK/Turkey, MR/N027302/1), BBMRI-LPC (EU FP7 #313010), NeurOmics (EU FP7 #305121), the Economic Development Department of the Navarra Government (Grant number 001114112017), the European Reference Network for Rare Neurological Diseases (Project ID number 739510) and NIH, National Institute of Child Health and Human Development (1R01HD103805-01). We acknowledge the support of the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Program/Generalitat de Catalunya. We also acknowledge the support of the Generalitat de Catalunya through Departament de Salut and Departament d'Empresa i Coneixement and Co-financing by the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) with funds from the European Regional Development Fund (ERDF) corresponding to the 2014-2020 Smart Growth Operating Program. HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279).

Published
2022

Catalog

Books, media, physical & digital resources
See catalog results