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

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

doi:10.1038/s41588-024-01941-1

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

Angelica Maria Delgado-Vega^*
, Helene Cederroth
, Fulya Taylan
, Katja Ekholm
, Marlene Ek
, Håkan Thonberg
, Anders Jemt
, Daniel Nilsson
, Jesper Eisfeldt
, Kristine Bilgrav Saether
, Ida Höijer
, Ozlem Akgun-Dogan
, Yui Asano
, Tahsin Stefan Barakat
, Dominyka Batkovskyte
, Gareth Baynam
, Olaf Bodamer
, Wanna Chetruengchai
, Pádraic Corcoran
, Madeline Couse

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

^*Autor correspondiente de este trabajo

Karolinska Institutet
Karolinska Institutet
Wilhelm Foundation
Uppsala University
Acibadem Mehmet Ali Aydinlar Universitesi
Swallow Design Studio
Erasmus MC
Child & Adolescent Health Service
Western Australian Register of Developmental Anomalies
King Edward Memorial Hospital for Women
Australian National University
Boston Children's Hospital
Chulalongkorn University
King Chulalongkorn Memorial Hospital
University of Toronto
Jackson Laboratory
University of Tübingen
National Center of Neurology and Psychiatry Kodaira
University of Gothenburg
Universidad Nacional Autónoma de México
Joint Support-Center for Data Science Research
Sir Ganga Ram Hospital
Casa dos Raros
Universidade Federal do Rio Grande do Sul
Department Genetics UFRGS and DASA
Dasa Genomica
SingHealth Duke-NUS Institute of Precision Medicine
University of Western Australia
Curtin University
Linköping University
Kwame Nkrumah University of Science and Technology
Oxford Nanopore Technologies
University of Colombo Faculty of Medicine
Karachi Grammar School
KTH Royal Institute of Technology
New Vision University
Georgian Foundation for Genetic and Rare Diseases
McGill University
Centro Nacional de Análisis Genómico (CNAG)
University of Barcelona
Duke-National University of Singapore Medical School
Agency for Science, Technology and Research, Singapore
Baylor College of Medicine
University of Kinshasa
Université des Sciences, des Techniques et des Technologies de Bamako
University of Wisconsin-Madison
Campania University “Luigi Vanvitelli”
Fondazione Telethon
Sahlgrenska University Hospital
Izmir Biomedicine and Genome Center-IBG
Emory University
Sanford Health
University of South Dakota
International Rare Disease Research Consortium (IRDiRC)
Clarion I
Chulalongkorn University
Instituto de Salud Carlos III (ISCIII)
FCSAI
Invitae Corporation
Universidad San Francisco de Quito
University Hospital of Wales
Uppsala University
Istituto Superiore di Sanita
Art
Illumina, Inc.
Tbilisi State Medical University
Rigshospitalet
University of Copenhagen
Radboud UMC
ERN-ITHACA European Reference Network for Rare Malformation Syndromes
service d'endocrinologie et diabétologie pédiatriques
University of Gothenburg
Fudan University
China Alliance for Rare Diseases
Texas Children's Hospital
Technical University of Munich
Rare Disease Ghana Initiative
University of Utah School of Medicine
Aga Khan University
African Rare Diseases Initiative
University of New South Wales
Sydney Children’s Hospitals Network
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Producción científica: Contribución a una revista › Comentario/Debate

8 Citas (Scopus)

Resumen

In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

Idioma original	Inglés
Páginas (desde-hasta)	2287-2294
Número de páginas	8
Publicación	Nature Genetics
Volumen	56
N.º	11
DOI	https://doi.org/10.1038/s41588-024-01941-1
Estado	Publicada - nov. 2024

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10.1038/s41588-024-01941-1

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Delgado-Vega, A. M., Cederroth, H., Taylan, F., Ekholm, K., Ek, M., Thonberg, H., Jemt, A., Nilsson, D., Eisfeldt, J., Bilgrav Saether, K., Höijer, I., Akgun-Dogan, O., Asano, Y., Barakat, T. S., Batkovskyte, D., Baynam, G., Bodamer, O., Chetruengchai, W., Corcoran, P., ... Nordgren, A. (2024). Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nature Genetics, 56(11), 2287-2294. https://doi.org/10.1038/s41588-024-01941-1

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title = "Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon",

abstract = "In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40\% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.",

author = "Delgado-Vega, \{Angelica Maria\} and Helene Cederroth and Fulya Taylan and Katja Ekholm and Marlene Ek and H{\aa}kan Thonberg and Anders Jemt and Daniel Nilsson and Jesper Eisfeldt and \{Bilgrav Saether\}, Kristine and Ida H{\"o}ijer and Ozlem Akgun-Dogan and Yui Asano and Barakat, \{Tahsin Stefan\} and Dominyka Batkovskyte and Gareth Baynam and Olaf Bodamer and Wanna Chetruengchai and P{\'a}draic Corcoran and Madeline Couse and Daniel Danis and German Demidov and Eisuke Dohi and Mattias Erhardsson and Luis Fernandez-Luna and Toyofumi Fujiwara and Neha Garg and Roberto Giugliani and Claudia Gonzaga-Jauregui and Giedre Grigelioniene and Tudor Groza and Cecilia Gunnarsson and Anna Hammarsj{\"o} and Hammond, \{Charles Kumi\} and \{Hatirnaz Ng\}, {\"O}zden and Sirisha Hesketh and Dineshani Hettiarachchi and \{Johansson Soller\}, Maria and Kirmani, \{Umn Ahmed\} and Martin Kjellberg and Malin Kvarnung and Oleg Kvlividze and Kristina Lagerstedt-Robinson and Paul Lasko and Timo Lassmann and Lau, \{Lynette Y.S.\} and Steven Laurie and Lim, \{Weng Khong\} and Zhandong Liu and \{Lysenkova Wiklander\}, Mariya and Prince Makay and Maiga, \{Alassane Baneye\} and Carolina Maya-Gonz{\'a}lez and Meyn, \{M. Stephen\} and Ramprasad Neethiraj and Vincenzo Nigro and Felix Nordgren and Jessica Nordlund and Sara Orrsj{\"o} and Jesper Ottosson and Ugur Ozbek and {\"O}zkan {\"O}zdemir and Clyde Partin and Pearce, \{David A.\} and Raquel Peck and Annie Pedersen and Maria Pettersson and Monnat Pongpanich and \{Posada de la Paz\}, Manuel and Arun Ramani and Romero, \{Juan Andres\} and Romero, \{Vanessa I.\} and Richard Rosenquist and Saw, \{Aung Min\} and Matthew Spencer and Stattin, \{Eva Lena\} and Chalurmpon Srichomthong and Isabel Tapia-Paez and Domenica Taruscio and Taylor, \{Julie P.\} and Tinatin Tkemaladze and Ian Tully and Zeynep T{\"u}mer and \{van Zelst-Stams\}, \{Wendy A.G.\} and Alain Verloes and Emma V{\"a}sterviga and Sailan Wang and Rachel Yang and Shinya Yamamoto and Y{\'e}pez, \{Vicente A.\} and Qing Zhang and Vorasuk Shotelersuk and Wiafe, \{Samuel Agyei\} and Yasemin Alanay and Botto, \{Lorenzo D.\} and Salman Kirmani and Aim{\'e} Lumaka and Palmer, \{Elizabeth Emma\} and Puri, \{Ratna Dua\} and Valtteri Wirta and Anna Lindstrand and Buske, \{Orion J.\} and Mikk Cederroth and Ann Nordgren",

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AU - Cederroth, Helene

AU - Taylan, Fulya

AU - Ekholm, Katja

AU - Ek, Marlene

AU - Thonberg, Håkan

AU - Jemt, Anders

AU - Nilsson, Daniel

AU - Eisfeldt, Jesper

AU - Bilgrav Saether, Kristine

AU - Höijer, Ida

AU - Akgun-Dogan, Ozlem

AU - Asano, Yui

AU - Barakat, Tahsin Stefan

AU - Batkovskyte, Dominyka

AU - Baynam, Gareth

AU - Bodamer, Olaf

AU - Chetruengchai, Wanna

AU - Corcoran, Pádraic

AU - Couse, Madeline

AU - Danis, Daniel

AU - Demidov, German

AU - Dohi, Eisuke

AU - Erhardsson, Mattias

AU - Fernandez-Luna, Luis

AU - Fujiwara, Toyofumi

AU - Garg, Neha

AU - Giugliani, Roberto

AU - Gonzaga-Jauregui, Claudia

AU - Grigelioniene, Giedre

AU - Groza, Tudor

AU - Gunnarsson, Cecilia

AU - Hammarsjö, Anna

AU - Hammond, Charles Kumi

AU - Hatirnaz Ng, Özden

AU - Hesketh, Sirisha

AU - Hettiarachchi, Dineshani

AU - Johansson Soller, Maria

AU - Kirmani, Umn Ahmed

AU - Kjellberg, Martin

AU - Kvarnung, Malin

AU - Kvlividze, Oleg

AU - Lagerstedt-Robinson, Kristina

AU - Lasko, Paul

AU - Lassmann, Timo

AU - Lau, Lynette Y.S.

AU - Laurie, Steven

AU - Lim, Weng Khong

AU - Liu, Zhandong

AU - Lysenkova Wiklander, Mariya

AU - Makay, Prince

AU - Maiga, Alassane Baneye

AU - Maya-González, Carolina

AU - Meyn, M. Stephen

AU - Neethiraj, Ramprasad

AU - Nigro, Vincenzo

AU - Nordgren, Felix

AU - Nordlund, Jessica

AU - Orrsjö, Sara

AU - Ottosson, Jesper

AU - Ozbek, Ugur

AU - Özdemir, Özkan

AU - Partin, Clyde

AU - Pearce, David A.

AU - Peck, Raquel

AU - Pedersen, Annie

AU - Pettersson, Maria

AU - Pongpanich, Monnat

AU - Posada de la Paz, Manuel

AU - Ramani, Arun

AU - Romero, Juan Andres

AU - Romero, Vanessa I.

AU - Rosenquist, Richard

AU - Saw, Aung Min

AU - Spencer, Matthew

AU - Stattin, Eva Lena

AU - Srichomthong, Chalurmpon

AU - Tapia-Paez, Isabel

AU - Taruscio, Domenica

AU - Taylor, Julie P.

AU - Tkemaladze, Tinatin

AU - Tully, Ian

AU - Tümer, Zeynep

AU - van Zelst-Stams, Wendy A.G.

AU - Verloes, Alain

AU - Västerviga, Emma

AU - Wang, Sailan

AU - Yang, Rachel

AU - Yamamoto, Shinya

AU - Yépez, Vicente A.

AU - Zhang, Qing

AU - Shotelersuk, Vorasuk

AU - Wiafe, Samuel Agyei

AU - Alanay, Yasemin

AU - Botto, Lorenzo D.

AU - Kirmani, Salman

AU - Lumaka, Aimé

AU - Palmer, Elizabeth Emma

AU - Puri, Ratna Dua

AU - Wirta, Valtteri

AU - Lindstrand, Anna

AU - Buske, Orion J.

AU - Cederroth, Mikk

AU - Nordgren, Ann

PY - 2024/11

Y1 - 2024/11

N2 - In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

AB - In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

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DO - 10.1038/s41588-024-01941-1

M3 - Comentario/Debate

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AN - SCOPUS:85208710649

SN - 1061-4036

VL - 56

SP - 2287

EP - 2294

JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -

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

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