Browsing by Author "Shalini Padmanabhan"

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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
(John Wiley and Sons Inc, 2023) Eva-Juliane Vollstedt; Susen Schaake; Katja Lohmann; Shalini Padmanabhan; Alexis Brice; Suzanne Lesage; Christelle Tesson; Marie Vidailhet; Isabel Wurster; Faycel Hentati; Anat Mirelman; Nir Giladi; Karen Marder; Cheryl Waters; Stanley Fahn; Meike Kasten; Norbert Brüggemann; Max Borsche; Tatiana Foroud; Eduardo Tolosa; Alicia Garrido; Grazia Annesi; Monica Gagliardi; Maria Bozi; Leonidas Stefanis; Joaquim J. Ferreira; Leonor Correia Guedes; Micol Avenali; Simona Petrucci; Lorraine Clark; Ekaterina Y. Fedotova; Natalya Y. Abramycheva; Victoria Alvarez; Manuel Menéndez-González; Silvia Jesús Maestre; Pilar Gómez-Garre; Pablo Mir; Andrea Carmine Belin; Caroline Ran; Chin-Hsien Lin; Ming-Che Kuo; David Crosiers; Zbigniew K. Wszolek; Owen A. Ross; Joseph Jankovic; Kenya Nishioka; Manabu Funayama; Jordi Clarimon; Caroline H. Williams-Gray; Marta Camacho; Mario Cornejo-Olivas; Luis Torres-Ramirez; Yih-Ru Wu; Guey-Jen Lee-Chen; Ana Morgadinho; Teeratorn Pulkes; Pichet Termsarasab; Daniela Berg; Gregor Kuhlenbäumer; Andrea A. Kühn; Friederike Borngräber; Giuseppe de Michele; Anna De Rosa; Alexander Zimprich; Andreas Puschmann; George D. Mellick; Jolanta Dorszewska; Jonathan Carr; Rosangela Ferese; Stefano Gambardella; Bruce Chase; Katerina Markopoulou; Wataru Satake; Tatsushi Toda; Malco Rossi; Marcelo Merello; Timothy Lynch; Diana A. Olszewska; Shen-Yang Lim; Azlina Ahmad-Annuar; Ai Huey Tan; Bashayer Al-Mubarak; Hasmet Hanagasi; Dariusz Koziorowski; Sibel Ertan; Gençer Genç; Patricia de Carvalho Aguiar; Melinda Barkhuizen; Marcia M.G. Pimentel; Rachel Saunders-Pullman; Bart van de Warrenburg; Susan Bressman; Mathias Toft; Silke Appel-Cresswell; Anthony E. Lang; Matej Skorvanek; Agnita J.W. Boon; Rejko Krüger; Esther M. Sammler; Vitor Tumas; Bao-rong Zhang; Gaetan Garraux; Sun Ju Chung; Yun Joong Kim; Juliane Winkelmann; Carolyn M. Sue; Eng-King Tan; Joana Damásio; Péter Klivényi; Vladimir S. Kostic; David Arkadir; Mika Martikainen; Vanderci Borges; Jens Michael Hertz; Laura Brighina; Mariana Spitz; Oksana Suchowersky; Olaf Riess; Parimal Das; Brit Mollenhauer; Emilia M. Gatto; Maria Skaalum Petersen; Nobutaka Hattori; Ruey-Meei Wu; Sergey N. Illarioshkin; Enza Maria Valente; Jan O. Aasly; Anna Aasly; Roy N. Alcalay; Avner Thaler; Matthew J. Farrer; Kathrin Brockmann; Jean-Christophe Corvol; Christine Klein; Alberto Albanese; Amaal Aldakheel; Thamer Alkhairallah; Nada Al-tassan; Victoria Alvarez; Paolo Amami; Grazia Annesi; Marco Antonio Araujo Leite; Henrique Ballalai Ferraz; Soraya Bardien; Matthew J. Barrett; A. Nazlı Başak; Basar Bilgic; Bastiaan R. Bloem; Vincenzo Bonifati; Jonathan Carr; Martin Emiliano Cesarini; Leonor Correia Guedes; Anna De Rosa; Elena Dieguez; Stanley Fahn; Rosangela Ferese; Victor S. C. Fung; Monica Gagliardi; Alicia Garrido; Nobutaka Hattori; Cristina Januario; Silvia Jesús Maestre; Valtteri Kaasinen; Hiroshi Kataoka; Anneke A. Kievit; Guey-Jen Lee-Chen; Jia Lun Lim; Timothy Lynch; Patrick May; Allan McCarthy; Hugo Morales Briceno; Huw Morris; Alexandra Mosejova; Özgür Öztop Çakmak; Avi Orr-Urtreger; Sinthuja Pachchek; Maria Teresa Periñán; Radha Procopio; Owen A. Ross; Javier Ruiz-Martinez; João Santos Pereira; Alexandra I. Soto-Beasley; Mário Sousa; Fatih Tepgeç; Tatsushi Toda; Oya Uyguner; Ronald L. Walton; Juliane Winkelmann; Zbigniew K. Wszolek
Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
(Public Library of Science, 2023) Eva-Juliane Vollstedt; Harutyun Madoev; Anna Aasly; Azlina Ahmad-Annuar; Bashayer Al-Mubarak; Roy N. Alcalay; Victoria Alvarez; Ignacio Amorin; Grazia Annesi; David Arkadir; Soraya Bardien; Roger A. Barker; Melinda Barkhuizen; A. Nazli Basak; Vincenzo Bonifati; Agnita Boon; Laura Brighina; Kathrin Brockmann; Andrea Carmine Belin; Jonathan Carr; Jordi Clarimon; Mario Cornejo-Olivas; Leonor Correia Guedes; Jean-Christophe Corvol; David Crosiers; Joana Damásio; Parimal Das; Patricia de Carvalho Aguiar; Anna De Rosa; Jolanta Dorszewska; Sibel Ertan; Rosangela Ferese; Joaquim Ferreira; Emilia Gatto; Gençer Genç; Nir Giladi; Pilar Gómez-Garre; Hasmet Hanagasi; Nobutaka Hattori; Faycal Hentati; Dorota Hoffman-Zacharska; Sergey N. Illarioshkin; Joseph Jankovic; Silvia Jesús; Valtteri Kaasinen; Anneke Kievit; Peter Klivenyi; Vladimir Kostic; Dariusz Koziorowski; Andrea A. Kühn; Anthony E. Lang; Shen-Yang Lim; Chin-Hsien Lin; Katja Lohmann; Vladana Markovic; Mika Henrik Martikainen; George Mellick; Marcelo Merello; Lukasz Milanowski; Pablo Mir; Özgür Öztop-Çakmak; Márcia Mattos Gonçalves Pimentel; Teeratorn Pulkes; Andreas Puschmann; Ekaterina Rogaeva; Esther M. Sammler; Maria Skaalum Petersen; Matej Skorvanek; Mariana Spitz; Oksana Suchowersky; Ai Huey Tan; Pichet Termsarasab; Avner Thaler; Vitor Tumas; Enza Maria Valente; Bart van de Warrenburg; Caroline H. Williams-Gray; Ruey-Mei Wu; Baorong Zhang; Alexander Zimprich; Justin Solle; Shalini Padmanabhan; Christine Klein
Parkinson’s disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson’s Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients. Copyright: © 2023 Vollstedt et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.