A team of doctors from the Virgen del Rocío hospital in Seville and Sant Joan de Déu hospital in Barcelona, and their respective research institutes (Irsdj and IBIS), have collaborated in the investigation that described a new rare disease associated with a mutation in a Spanish patient. DOCK11.
For this, it has been necessary to work for years, together with other international reference centers, on genetic analyzes of the patient and his family, as well as functional studies and work on experimental models, which are detailed in a study recently published in The New England Journal of Medicine.
However, this whole process of international collaboration It begins at the moment when some doctors who care for a patient with a clinical picture that does not fit with any diagnosis decide to go a step further.
Because, as recognized by one of the specialists who participated in the discovery of this new disease: “Without clinical suspicion, there is no diagnosis.”
This is how he comments to Joan Calzada, from the Pediatric Rheumatology team at Sant Joan de Déu and a researcher at the Irsjd, who highlights the importance of the clinical part of the process. “Only with the clinical suspicion that you are dealing with a new disease, you will probably not be able to describe it, but without it, it is not possible to do so.”