Parc Taulí works for a comprehensive approach to minority diseases

Parc Taulí celebrated this morning the World Day of Rare Diseases: Towards a model of comprehensive approach, with the aim of spreading medical and scientific information about the importance of early diagnosis and its impact on comprehensive management of patients with minority genetic diseases. As well as the importance of working together with patient associations.

The Conference was inaugurated by the head of the Hospitalization Process, Dra. Belén Coch; the coordinator of the Rare Diseases Unit of Parc Taulí and member of the CatSalut Rare Diseases Advisory Committee, Dra. Pepi Rivera; the head of the minority area of ​​the I3PT and clinical coordinator of the Prader Willy Syndrome UEC of Parc Taulí, Dra. Raquel Corripio; and the director of the MPS-Lysosomal Patients' Association and representative in Catalonia of the Spanish Federation of Rare Diseases, Jordi Cruz.

Both Dr. Coch, Dra. Rivera and Dr. Corripio have agreed to highlight Parc Taulí's commitment to researching minority diseases by working together with care professionals with patients and their families. As well as going beyond diagnosis with targeted, innovative and precision therapies.

To carry out this comprehensive approach to minority diseases, collaboration with primary care professionals is very important, for early detection; with the various healthcare professionals at the hospital and with services such as the Laboratory or the Center for Genomic Medicine.

Dr. Raquel Corripio was in charge of making the opening presentation with an exhibition on Rare Diseases: A challenge for health care with a comprehensive approach.

Afterwards, Núria Capdevila, a specialist in the Clinical Genetics Unit of the Center for Genomic Medicine, explained the importance of synchronizing with Primary Care to identify and refer patients with a minority disease with a genetic basis. Then, Dra. Carmen Manso, the clinical coordinator of the UEC for genetic-based cognitive-behavioral minority diseases, explained the experience at the XUEC. And Dr. Juan Pablo Trujillo, a doctor in the Clinical Genetics Unit, has proposed the creation of a committee for therapies aimed at minority genetic diseases.

Representatives of family and patient associations explained the importance of accompanying families and the experience of a patient was presented.

Dr. Trujillo has insisted on the importance of detecting genetic diseases early and referring them to the Clinical Genetics Unit. And Dr. Artur Llobell, specialist in clinical immunology has insisted on the importance of rapid referral from primary care when there is a suspicion, specifically, of inflammatory diseases.

The director of the Parc Taulí Genomic Medicine Center, Dr. Víctor Martínez, closed the day with an explanation about innovative therapies and precision medicine.