5% of rare genetic diseases are susceptible to treatment through targeted therapies or orphan drugs, which are drugs intended for the specific treatment of the genetic cause. This opens the opportunity to offer a comprehensive clinical model that allows these treatments to be identified with evidence and efficacy and offered efficiently to patients affected by some of these genetic conditions.
Given this context, the Parc Taulí Care Management Committee has approved the constitution of the Multidisciplinary Committee on Targeted Therapies for Genetically Based Rare Diseases (CoTEMGe), coordinated by Dr. Juan Pablo Trujillo, from the Parc Taulí Genomic Medicine Center.
This multidisciplinary committee aims to identify patients with rare genetic diseases to offer them targeted treatment to improve their condition or prevent the progression of the disease; support the clinical team by treating and monitoring the patient; manage the authorization of the treatment with the hospital's Pharmacy/CATSE and evaluate the results of the treatment in the patient.
"This new committee is part of Parc Taulí's desire to put rare diseases at the center. And, specifically, the importance of genetics to improve personalized medicine in rare diseases and open the door to future innovative treatments to correct a genetic defect.”, points out Dr. Trujillo.
The CoTEMGe is formed by Dr. Juan Pablo Trujillo, coordinator of the Committee. And, as members: Dr. Ricard Comet, director of the Internal Medicine service; Dr. Raquel Corripio, director of the Pediatrics service and clinical coordinator of the pediatric UEC for Prader Willi Syndrome; Jorge del Estal, Outpatient and Outpatient Pharmacy Unit; Dr. Víctor Martínez, director of the Center for Genomic Medicine; Dr. Marcelo Rizzo, Cardiology service; Dr. Anna Roche, Pediatric Neurology Unit; and head of the I3PT group on Genetically Based Cognitive Behavioral Disorders; Dr. Gemma Sansa and Dr. Carme Vila, Adult Epilepsy Unit, Neurology service and Dr. Eugenio Zapata, Clinical Genetics Unit and Pharmacogenetics and Advanced Therapies Unit of the Parc Taulí Center for Genomic Medicine.
