14 patients from several different countries – including Sweden – who, despite countless efforts from their doctors and gene specialists, still have not had their disease diagnosed, are the main focus during two intensive days in Stockholm.
95 medical experts have flown in from 27 different countries and have given themselves a total of 48 hours to solve the task.
– These patients that we analyze come from all over the world. What they have in common is that there is a strong suspicion that the symptoms they have have a genetic cause, says Anne Nordgren, professor and senior physician in clinical genetics at Karolinska University Hospital and Sahlgrenska University Hospital.
Compared to animal genes
For many of the researchers, it is the first time they meet the patients and their families.
– They will try to distinguish specific genes in the patients, and then compare and see if they correspond to already analyzed genes from, for example, mice and fruit flies, says Shinya Yamamoto, assistant professor at Baylor College of Medicine.
With the help of the information already collected about the animal gene, there is a chance to understand more about the person’s disease.
– Ultimately, this can lead to the formation of ideas about how to care for the patient, says Yamamoto.
The family that has received new hope
Several of the participants are children, and SVT has met six-year-old Ludvig and his family, whose hope for a diagnosis was strengthened after the first day.
– You have high hopes, but at the same time we understand that they can’t promise anything, says mother Madelene.
Father Martin agrees:
– For us, it would mean a lot. To understand Ludvig better, to be able to medicate him correctly and also to understand more about his future.