Members
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Capdevila Atienza, Nuria – Genetic Counselor
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Cartró Font, Mireia – Genetic Counselor
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Manso Bazus, Carmen – Geneticist doctor
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Martínez-Glez, Víctor – Geneticist doctor
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Trujillo Quintero, Juan Pablo – Geneticist doctor
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Zapata Aldana, Eugenio – Geneticist doctor
Clinical Genetics is a field of medicine that focuses on the study of genetic disorders and their impact on human health. Clinical geneticists play a fundamental role in the identification, prevention and treatment of genetic diseases. Clinical geneticists also devote their efforts to research, which allows them to develop improvements in care, as well as more effective and personalized therapies and treatments for patients.
You will find information about the reasons for the consultation, how it works and common questions in the clinical genetics consultation in the patient information section.
Genetic Counseling Consultation
Genetic counseling is a specialized consultation offered to people or families who have a medical history or family history of genetic or hereditary diseases. The main purpose of the genetic counseling consultation is to help people understand genetic information related to their health and to provide guidance about the risk of developing a genetic disease, treatment and prevention options, as well as the impact that the disease can have on their lives and those of their relatives.
During the genetic counseling consultation, a specialist evaluates the patient's medical and family history, prescribes genetic tests when appropriate, and provides information about the risk of developing a genetic disease. Treatment and prevention options are also discussed, as well as the ethical, legal and psychological aspects associated with the disease. Genetic counseling is a valuable resource to help people make informed decisions about their health and that of their family members.
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Consultation of Clinical Genetics and Dysmorphology
The Clinical Genetics and Dysmorphology consultation is a specialized discipline that focuses on the diagnosis and management of patients with genetic disorders and congenital malformations. Clinical geneticists and dysmorphologists evaluate patients' physical and clinical characteristics, perform genetic and molecular testing, and provide a personalized diagnosis and treatment plan.
During the Clinical Genetics and Dysmorphology consultation, advice and guidance is also provided on the risk of developing a genetic disease, as well as information on treatment and prevention options. In addition, clinical geneticists, along with genetic counselors, can work in collaboration with other health professionals to provide comprehensive and coordinated care for patients with genetic disorders and congenital malformations.
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Rare Diseases Unit
A Rare Disease, is one that affects less than 1 in 2,000 people. It is estimated that 85% have a genetic origin. The research and treatment of rare diseases is an important field in clinical genetics and medicine in general, and a multidisciplinary approach is needed to ensure the best possible care for patients affected by these conditions.
For this reason, the Center for Genomic Medicine is a central figure in the Rare Diseases Unit of Parc Taulí, responsible for restructuring, organizing and coordinating each and every one of the functional units created specifically to address these diseases, including there is the coordination of the different units of clinical expertise in rare diseases designated in Parc Taulí by the Catalan Health Service within the framework of the Development and implementation of the care model for rare diseases in Catalonia.
Parc Taulí has been designated as a Clinical Expertise Unit in Rare Cognitive Behavioral Pediatric and Adult, Neuromuscular, Systemic Autoimmune and Respiratory Diseases. To learn more about this Rare Disease Unit and the Network of Clinical Experience Units (XUEC) click here.
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Multidisciplinary Group of Directed Therapies
This multidisciplinary group, driven from the Clinical Genetics Unit, is a variable team of professionals who work together to design and implement personalized treatment plans for patients with rare diseases of high complexity.
These therapies are based on an understanding of the biological processes that contribute to the development of the disease. A variety of diagnostic and treatment tools and techniques, such as genetic testing to identify therapeutic targets, are used to provide more effective and individualized treatment for specific diseases, minimizing side effects and improving the quality of life of patients patients
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Other multidisciplinary units in which we participate
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Prenatal diagnosis: Multidisciplinary group for genetic diagnosis during pregnancy.
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GMAV: Multidisciplinary group of vascular anomalies.
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Cystic fibrosis: multidisciplinary unit focused on alterations caused by alterations in the CFTR gene.
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UEC Neuromuscular Minorities: Multidisciplinary unit of clinical expertise in neuromuscular diseases designated by CATSALUT.
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UEC Minoritàrias Immunitarias: Multidisciplinary unit of clinical expertise in systemic autoimmune diseases designated by CATSALUT.
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Cardiogenetics: multidisciplinary group for the diagnosis and follow-up of familial heart diseases and genetically based cardiac alterations.
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Connective tissue disorders and skeletal dysplasias: multidisciplinary group for the diagnosis and monitoring of connective tissue pathologies, short stature and skeletal dysplasias.