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

Authors

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, The Jackson LaboratoryFollow
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

Document Type

Article

Publication Date

11-1-2024

Keywords

JGM

JAX Source

Nat Genet. 2024;56(11):2287-94.

ISSN

1546-1718

PMID

39433890

DOI

https://doi.org/10.1038/s41588-024-01941-1

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.

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