ImproCiencia hosts an IMPaCT-GENóMICA workshop on the search for diagnosis in rare diseases

15/11/2023

The ImproCiencia conference, an informative initiative organized yesterday by the CIBER within the framework of the Madrid Science Week, hosted an interactive workshop of the IMPaCT-GENóMICA program on the search for diagnosis in rare diseases in which students from the last years of ESO and baccalaureate participated.

The students participating in this workshop, taught by the case managers of IMPaCT-GENóMICA, immersed themselves in the challenging role of doctors who had to diagnose a person affected with a rare disease.

The young participants received information on the main clinical features of four rare diseases with similar symptoms. Then, they faced the challenge of contrasting this information with the patient’s photo and physical characteristics. To support their diagnoses, the doctor-students had access to the genetic tests performed on the patient, allowing them to compare them with the genetic tests of healthy individuals.

The conference not only provided a valuable educational experience, but also highlighted the importance of genomics in the diagnosis of rare diseases, underlining the commitment of the IMPaCT-GENOMICA program in this area.

The active participation of the program managers highlighted the fundamental work they play in disseminating and raising awareness about these diseases. In addition, this event reinforces the commitment of the CIBER for Rare Diseases (CIBERER) in the promotion of science and research, especially in the field of genomics and rare diseases.

About ImproScience

ImproCiencia is a scientific dissemination event that combines science and theatrical improvisation on the same stage. The aim is for students to enjoy science while learning. Likewise, ImproCiencia seeks to promote scientific vocations among young people. The activity is developed thanks to the involvement of the CIBER research staff and the theatrical improvisation company ImproIMPAR.

In this fifth edition of ImproCiencia, groups of ESO and baccalaureate students have been able to learn in a fun way what CIBER is and some of the research in its different thematic areas. In addition, they have participated in 3 workshops: one on IMPaCT-GENóMICA, another on the IMPaCT Cohort and a last one on mental health and adolescents.

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