Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Document Type
Article
Publication Date
11-1-2024
Original Citation
Delgado-Vega A,
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,
Batkovskyte D,
Baynam G,
Bodamer O,
Chetruengchai W,
Corcoran P,
Couse M,
Danis D,
Demidov G,
Dohi E,
Erhardsson M,
Fernandez-Luna L,
Fujiwara T,
Garg N,
Giugliani R,
Gonzaga-Jauregui C,
Grigelioniene G,
Groza T,
Gunnarsson C,
Hammarsjö A,
Hammond C,
Hatirnaz Ng Ö,
Hesketh S,
Hettiarachchi D,
Johansson Soller M,
Kirmani U,
Kjellberg M,
Kvarnung M,
Kvlividze O,
Lagerstedt-Robinson K,
Lasko P,
Lassmann T,
Lau L,
Laurie S,
Lim W,
Liu Z,
Lysenkova Wiklander M,
Makay P,
Maiga A,
Maya-González C,
Meyn M,
Neethiraj R,
Nigro V,
Nordgren F,
Nordlund J,
Orrsjö S,
Ottosson J,
Ozbek U,
Özdemir Ö,
Partin C,
Pearce D,
Peck R,
Pedersen A,
Pettersson M,
Pongpanich M,
Posada de la Paz M,
Ramani A,
Romero J,
Romero V,
Rosenquist R,
Saw A,
Spencer M,
Stattin E,
Srichomthong C,
Tapia-Paez I,
Taruscio D,
Taylor J,
Tkemaladze T,
Tully I,
Tümer Z,
van Zelst-Stams W,
Verloes A,
Västerviga E,
Wang S,
Yang R,
Yamamoto S,
Yépez V,
Zhang Q,
Shotelersuk V,
Wiafe S,
Alanay Y,
Botto L,
Kirmani S,
Lumaka A,
Palmer E,
Puri R,
Wirta V,
Lindstrand A,
Buske O,
Cederroth M,
Nordgren A.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024;56(11):2287-94.
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.