After an international hackathon, patients with rare diseases were diagnosed

Long term lessons learned

On-site participants testified to a desire to help their patients in their home countries and learn new ways to analyze patient data.

– I hope we will reduce the number of undiagnosed patients. There are still many things we don’t have answers for in genetics. But we have already solved a third of the diagnoses in the participating patients and that is big, says Alain Verloes, head of clinical genetics at the Robert Debré Hospital, France, and president of ERN ITHACA (European Network for Rare Syndromes with Malformations and/ of developmental disorder).

Anna Lindstrand, adjunct professor at KI and chief physician at Karolinska University Hospital, also sees long-term value in the interdisciplinary approach.

– What we can do now is learn even more and how we can go further and take the next step in sequencing long reads and sequencing RNA (a macromolecule), as well as other types of tools and databases that our international colleagues use develop further at their universities. I’ve taken careful notes and probably have five different such tools that I’ll take back to my lab and tell my colleagues to try, she says.

This text is based on a longer news article from Karolinska University Hospital.

Anna Popplewell

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