Courses
Medical and laboratorial genetics
General information
| Official Code: | 142 |
| Acronym: | GML |
| Description: | Objectives: 1. To raise awareness of the genetic component in the diagnosis, progression, prevention and treatment of hereditary diseases. 2. To expand knowledge in the field of genetics, particularly those with a relevant impact on the health of populations. 3. To raise awareness of the role of the geneticist and laboratory specialist in the field of Genetics, highlighting the interdisciplinary nature of the different medical specialities and the interconnection between the clinic and the laboratory. 4. To encourage closer contact between doctors from different specialities and geneticists and laboratory specialists in the field of Genetics. 5. Raise awareness of the diagnostic research process in genetic counselling and prenatal care in the various medical areas. |
Certificates
- Medical and laboratorial genetics (6 ECTS credits)
Courses Units
Genomics: from simple to complex analyses.
Classical and molecular cytogenetics
Inherited metabolic diseases
In the era of precision medicine, the importance of genomics and multi-omics in clinical care is increasingly being recognized. This module aims to present how to scale and effectively implement the analytical diagnosis of Inherited Metabolic Diseases (IMD) on an institutional level of a reference center.
Implemented analitical studies focused on identifying the key pillars and processes that are required to make routine diagnosis and to eveluate response to treatment, a reality in the clinical setting.
Teachers describe experience and lessons learned for a variety of topics including test logistics of analytical procedures, diagnostic alghoritms, results reporting, and necessary infrastructure.
Our model of providing clinical care by comprehensive biochemical and molecular analysis may be used by other centers with a similar structure to facilitate the implementation of omics-based personalized medicine health concepts.
Medical genetics: a multidisciplinary approach I
This module will address the impact of genetic information on the predisposition, diagnosis, prognosis, treatment and prevention of genetic diseases. Clinical cases of patients diagnosed in the Medical Genetics Service and in the Metabolic Diseases Unit of the CHP will be analyzed, with two groups of pathologies: inborn metabolic disorders and cognitive impairment.
Medical genetics: a multidisciplinary approach II
Introduction to the clinical applications of genetics
To recognize the role of patient organisations and European reference networks in supporting patients and families.
To understand basic concepts in human genetics.
To describe the role of the medical genetics consultation in genetic diagnosis and counselling.
To understand the principles of population genetics and their clinical application.
To know and use the main databases in human genetics.
Translational genomics for clinical medicine: the future is here.
- Equip participants with a foundational understanding of clinical research
- Present the challenges and opportunities of clinical research in Portugal, illustrated by a case study
- Raise awareness among participants regarding the significance of clinical research in enhancing quality of life and healthcare.
- To foster discussion on the challenges and opportunities of research in Portugal, using the UMIB as example
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