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Your search keyword '"Real, Raquel [0000-0001-8117-742X]"' showing total 4 results
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4 results on '"Real, Raquel [0000-0001-8117-742X]"'

1. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

Author

Michael J. Fox Foundation for Parkinson's Research, Aligning Science Against Parkinson's, National Institutes of Health (US), National Institute on Aging (US), National Institute of Neurological Disorders and Stroke (US), Leonard, Hampton [0000-0003-2390-8110], Illarionova, Anastasia [0000-0002-1711-7155], Moore, Anni [0000-0003-1953-6449], Bustos, Bernabé I. [0000-0003-2679-9503], Huxford, Brook [0000-0002-5908-6983], Storm, Catherine S. [0000-0003-4957-1712], Towns, Clodagh [0000-0001-8418-6241], Yu, Eric [0000-0003-3525-4564], Elsayed, Inas [0000-0003-4646-8218], Lake, Julie [0000-0002-3441-2455], Brolin, Kajsa [0000-0003-4832-922X], Senkevich, Konstantin [0000-0003-3407-5716], Tan, Manuela M. X. [0000-0001-5835-669X], Makarious, Mary B [.0000-0002-7978-1051], Pillay, Nikita Simone [0000-0002-9058-0920], Betancor, Oswaldo Lorenzo [0000-0002-5607-8363], Real, Raquel [0000-0001-8117-742X], Reynolds, Regina H. [0000-0001-6470-7919], Scotton, William J. [0000-0003-0607-3190], Singleton, Andrew [0000-0001-5606-700X], Dey, Sumit [0000-0002-9087-4486], Blauwendraat, Cornelis [0000-0001-9358-8111], Noyce, Alastair [0000-0003-3027-5497], Leonard, Hampton, Murtadha, Ruqaya, Martínez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martínez, Ana Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabé I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine S., Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Álvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair, International Parkinson’s Disease Genomics Consortium, Global Parkinson’s Genetics Program, Michael J. Fox Foundation for Parkinson's Research, Aligning Science Against Parkinson's, National Institutes of Health (US), National Institute on Aging (US), National Institute of Neurological Disorders and Stroke (US), Leonard, Hampton [0000-0003-2390-8110], Illarionova, Anastasia [0000-0002-1711-7155], Moore, Anni [0000-0003-1953-6449], Bustos, Bernabé I. [0000-0003-2679-9503], Huxford, Brook [0000-0002-5908-6983], Storm, Catherine S. [0000-0003-4957-1712], Towns, Clodagh [0000-0001-8418-6241], Yu, Eric [0000-0003-3525-4564], Elsayed, Inas [0000-0003-4646-8218], Lake, Julie [0000-0002-3441-2455], Brolin, Kajsa [0000-0003-4832-922X], Senkevich, Konstantin [0000-0003-3407-5716], Tan, Manuela M. X. [0000-0001-5835-669X], Makarious, Mary B [.0000-0002-7978-1051], Pillay, Nikita Simone [0000-0002-9058-0920], Betancor, Oswaldo Lorenzo [0000-0002-5607-8363], Real, Raquel [0000-0001-8117-742X], Reynolds, Regina H. [0000-0001-6470-7919], Scotton, William J. [0000-0003-0607-3190], Singleton, Andrew [0000-0001-5606-700X], Dey, Sumit [0000-0002-9087-4486], Blauwendraat, Cornelis [0000-0001-9358-8111], Noyce, Alastair [0000-0003-3027-5497], Leonard, Hampton, Murtadha, Ruqaya, Martínez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martínez, Ana Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabé I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine S., Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Álvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair, International Parkinson’s Disease Genomics Consortium, and Global Parkinson’s Genetics Program

Abstract

Open science and collaboration are necessary to facilitate the advancement of Parkinson's disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources and creative solutions to problems. These events can be used as training and networking opportunities, thus we coordinated a virtual 3-day hackathon event, during which 49 early-career scientists from 12 countries built tools and pipelines with a focus on PD. Resources were created with the goal of helping scientists accelerate their own research by having access to the necessary code and tools. Each team was allocated one of nine different projects, each with a different goal. These included developing post-genome-wide association studies (GWAS) analysis pipelines, downstream analysis of genetic variation pipelines, and various visualization tools. Hackathons are a valuable approach to inspire creative thinking, supplement training in data science, and foster collaborative scientific relationships, which are foundational practices for early-career researchers. The resources generated can be used to accelerate research on the genetics of PD.

Published
2023

2. Combining biomarkers for prognostic modelling of Parkinson's disease

Author

Vijiaratnam, Nirosen, Lawton, Michael, Heslegrave, Amanda J, Guo, Tong, Tan, Manuela, Jabbari, Edwin, Real, Raquel, Woodside, John, Grosset, Katherine, Chelban, Viorica, Athauda, Dilan, Girges, Christine, Barker, Roger A, Hardy, John, Wood, Nicholas, Houlden, Henry, Williams, Nigel, Ben-Shlomo, Yoav, Zetterberg, Henrik, Grosset, Donald G, Foltynie, Thomas, Morris, Huw R, PRoBaND Clinical Consortium, Vijiaratnam, Nirosen [0000-0002-9671-0212], Lawton, Michael [0000-0002-3419-0354], Heslegrave, Amanda J [0000-0002-7290-6405], Guo, Tong [0000-0001-9395-3617], Tan, Manuela [0000-0001-5835-669X], Jabbari, Edwin [0000-0001-6844-882X], Real, Raquel [0000-0001-8117-742X], Chelban, Viorica [0000-0002-5817-6290], Athauda, Dilan [0000-0001-8594-2483], Girges, Christine [0000-0001-5019-6812], Barker, Roger A [0000-0001-8843-7730], Houlden, Henry [0000-0002-2866-7777], Williams, Nigel [0000-0003-1177-6931], Ben-Shlomo, Yoav [0000-0001-6648-3007], Zetterberg, Henrik [0000-0002-4671-6763], Grosset, Donald G [0000-0002-2757-8203], Foltynie, Thomas [0000-0003-0752-1813], Morris, Huw R [0000-0002-5473-3774], and Apollo - University of Cambridge Repository

Subjects
parkinson's disease
Abstract

BACKGROUND: Patients with Parkinson's disease (PD) have variable rates of progression. More accurate prediction of progression could improve selection for clinical trials. Although some variance in clinical progression can be predicted by age at onset and phenotype, we hypothesise that this can be further improved by blood biomarkers. OBJECTIVE: To determine if blood biomarkers (serum neurofilament light (NfL) and genetic status (glucocerebrosidase, GBA and apolipoprotein E (APOE))) are useful in addition to clinical measures for prognostic modelling in PD. METHODS: We evaluated the relationship between serum NfL and baseline and longitudinal clinical measures as well as patients' genetic (GBA and APOE) status. We classified patients as having a favourable or an unfavourable outcome based on a previously validated model, and explored how blood biomarkers compared with clinical variables in distinguishing prognostic phenotypes . RESULTS: 291 patients were assessed in this study. Baseline serum NfL was associated with baseline cognitive status. Nfl predicted a shorter time to dementia, postural instability and death (dementia-HR 2.64; postural instability-HR 1.32; mortality-HR 1.89) whereas APOEe4 status was associated with progression to dementia (dementia-HR 3.12, 95% CI 1.63 to 6.00). NfL levels and genetic variables predicted unfavourable progression to a similar extent as clinical predictors. The combination of clinical, NfL and genetic data produced a stronger prediction of unfavourable outcomes compared with age and gender (area under the curve: 0.74-age/gender vs 0.84-ALL p=0.0103). CONCLUSIONS: Clinical trials of disease-modifying therapies might usefully stratify patients using clinical, genetic and NfL status at the time of recruitment.

Published
2022
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3. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Author

Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Genomics England Research Consortium, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna, Smedley, Damian [0000-0002-5836-9850], Sheikh, Isabella [0000-0002-3952-371X], Chinnery, Patrick [0000-0002-7065-6617], Morris, Huw [0000-0002-5473-3774], Real, Raquel [0000-0001-8117-742X], Houlden, Henry [0000-0002-2866-7777], Tucci, Arianna [0000-0001-5644-0070], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Phenotype, Adolescent, Spastic Paraplegia, Hereditary, Mutation, Humans, Female, Middle Aged, Carrier Proteins, Child, Aged
Abstract

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out for rare, predicted pathogenic variants using candidate variants from the Exomiser analysis of the genome sequencing data. A significant gene-disease association was identified for UBAP1 and HSP. Three protein truncating variants were identified in 13 patients from 7 families. All patients presented with juvenile form of pure HSP, with median age at onset 10 years, showing autosomal dominant inheritance or de novo occurrence. Additional clinical features included parkinsonism and learning difficulties, but their association with UBAP1 needs to be established.

Published
2020

4. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Author

Henry Houlden, Valentina Cipriani, Evan Reid, Alkyoni Athanasiou-Fragkouli, Patrick F. Chinnery, Arianna Tucci, Nicholas W. Wood, Raquel Real, Huw R. Morris, Victoria Harrison, Damian Smedley, Thomas Bourinaris, Isabella Sheikh, Jana Vandrovcova, Smedley, Damian [0000-0002-5836-9850], Sheikh, Isabella [0000-0002-3952-371X], Chinnery, Patrick [0000-0002-7065-6617], Morris, Huw [0000-0002-5473-3774], Real, Raquel [0000-0001-8117-742X], Houlden, Henry [0000-0002-2866-7777], Tucci, Arianna [0000-0001-5644-0070], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Adolescent, Hereditary spastic paraplegia, Degenerative Disorder, 45/23, Biology, Brief Communication, Genome, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Genetics research, Genetics, medicine, Juvenile, Humans, 692/699/375, Child, Gene, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Spastic Paraplegia, Hereditary, Parkinsonism, brief-communication, 692/308/2056, 45/77, Middle Aged, medicine.disease, Phenotype, Mutation, Identification (biology), Female, Carrier Proteins, 82/1, 030217 neurology & neurosurgery, Neurological disorders
Abstract

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out for rare, predicted pathogenic variants using candidate variants from the Exomiser analysis of the genome sequencing data. A significant gene-disease association was identified for UBAP1 and HSP. Three protein truncating variants were identified in 13 patients from 7 families. All patients presented with juvenile form of pure HSP, with median age at onset 10 years, showing autosomal dominant inheritance or de novo occurrence. Additional clinical features included parkinsonism and learning difficulties, but their association with UBAP1 needs to be established.

Published
2020
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