48 hours. 122 experts. 260 datasets. 10 new diagnoses. We’re proud to participate in and sponsor #UndiagnosedHackathon2024 to help solve what had been previously deemed ‘unsolvable.’
The possibilities brought about by collaboration have never been more obvious to me than in the extraordinary initiative, that is the brainchild of Cederroth Helene and Mikk Cederroth of the Wilhelm Foundation. The #UndiagnosedHackathon2024 brought together over 122 experts from clinical genetics, patient advocacy through to computational biologists, AI and data experts from 28 countries to interrogate over 260 datasets - all with one purpose: to solve what had been previously deemed 'unsolveable'. I had the enormous privilege of opening the Undiagnosed Hackathon at the preliminary Tools Workshop. The work diagnosis does for people living with rare undiagnosed disease needed no introduction. Whilst receiving a diagnosis is never easy, it holds the possibility of care. Care is both a burden or responsibility, and an aspirational vision. Care holds the ability to cry out, to challenge stigma and to create new possibilities. The Undiagnosed Hackathon, was perhaps the most unified and significant act of care in the field of rare disease diagnosis that I have witnessed. Some of you know that I am also passionate about work that includes 'patients sitting at the front'. There was no moment more moving than when the local families joined us to start, yes, at the front. For the 26 families for whom new datasets were generated and the further 16 families for whom existing datasets were reanalysed, teams poured over clinical data, short read and long read whole genomes, transcriptomes, optical genome maps and in 48 hours provided ten new diagnoses (each with their own story of value), and found a further 9 possible diagnoses. Thank you to Mikk and Helene for compelling us to care. Thank you to the families and clinicians who put their hope in this venture. Thank you to the team at Nijmegen for your leadership and enthusiasm (Wendy van Zelst-Stams, Lisenka Vissers, Alexander Hoischen) and thank you to this team of extraordinary friends (old and new): Orion Buske, Alistair Ward, Drew Ellershaw, Holly Zheng Bradley, Gareth Baynam, Shahida Moosa, Elizabeth Emma Palmer, Michael Eberle, Samuel Wiafe, AIME LUMAKA, Raquel Peck, Tania Simoncelli, Shinya Yamamoto, Jennifer Gardner, Ann Nordgren, Steve Laurie, Pablo Botas, Salman Kirmani, Rocío Acuña Hidalgo and many more.
Impressive collaboration! Proud to see 48 hours of dedication from 122 experts leading to 10 new diagnoses with 260 datasets. Excited to sponsor #UndiagnosedHackathon2024 and tackle the ‘unsolvable’ together!