Molecular pathology of developmental diseases

Code:

OPT123

Acronym:

PMDAD

Keywords
Classification	Keyword
OFICIAL	Medicine

Instance: 2017/2018 - 2S

Active?	Yes
Responsible unit:	Departamento de Biomedicina
Course/CS Responsible:	Integrated Master in Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMED	8	Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular)	4	-	3	28	81
			5

Teaching language

Suitable for English-speaking students

Objectives

The main purpose of this curricular unit is to provide the students with the necessary knowledge regarding relevant aspects of the molecular mechanisms and clinical context of some of most prevalent developmental diseases. At the end of this curricular unit, the students should be capable of presenting a clinical case or a scientific article by integrating the knowledge at molecular and cellular levels in the discussion of clinical cases.

 

In each thematic unit (module) it is intended to practice the following learning objectives:

- Know the molecular and cellular processes underlying each of the presented pathologies;

- Understand the clinical profiles of the pathologies shown;

- Present and discuss in group, in a critical manner, one clinical case or scientific article. In respect to clinical cases, the students should integrate the molecular and clinical aspects. In the case of scientific articles, they should explore the clinical problem, objectives, experimental models, results, discussion and conclusions.

Learning outcomes and competences

Theoretical (T) sessions will present the molecular and cellular bases underlying the developmental abnormalities related with different pathologies by the coordinator teachers, followed by the presentation of clinical cases of relevant and/or more prevalent pathologies by specialized clinicians. Theoretical-practical (TP) sessions will have the participation of one of the coordinator teachers and the clinician expert collaborator in the field. They will encourage a discussion around clinical cases presented by the students in an informal setting with an emphasis on therapeutic approaches. To stimulate the student capacity for searching  information and its presentation and discussion, the students will develop an individual project (P) throughout the curricular unit with the supervision of one of the coordinator teachers and, if necessary , with co-supervision of a clinician. The presentation and discussion of the clinical cases (CC) will take place at the end of the curricular unit in TP sessions.

Working method

Presencial

Program

The syllabus per module:

 

Module 1:  Diseases associated to chromossomopaties, neural tube and craniofacial defects. For each disease: etiological factors (genetic and environmental); pre-natal screening (biochemical and imaging); developmental profiling; molecular and cellular mechanisms; clinical characteristics; therapeutic implications; research lines.  

Module 2:  Inherited metabolic diseases. Concept of inherited metabolism disorder; pathophysiological classification; biochemical and molecular aspects; diagnostic steps; intoxication diseases; energetic metabolism diseases; metabolism diseases of complex molecules; group characteristics; phenotypic diversity and heterogeneity;  genotype correlation; principles of therapeutic approaches; prognostic: natural story of the disease and its modification; prevention; systematic and orientated screenings; familiar intervention.

 Module 3: Neuropsychiatric disorders. Autism spectrum disorders and schizophrenia: clinical characteristics; neurodevelopmental profiling; molecular and cellular mechanisms; etiological factors (genetic, epigenetic and environmental); therapeutic implications; research lines. 

Module 4: Neuropediatric diseases. Muscular dystrophy and epilepsy: clinical characteristics; etiological factors (genetic and environmental); neurodevelopmental profiling; molecular and cellular mechanisms; therapeutic implications; research lines.

Mandatory literature

De Castro SC, Malhas A, Leung KY, Gustavsson P, Vaux DJ, Copp AJ, Greene ND; Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice., PLoS Genet, 2012 (Diseases associated to chromossomopaties, neural tube and craniofacial defects)
Li L, Wang J, Wu J. ; A spatial model to predict the incidence of neural tube defects. , BMC Public Health., 2012 (Diseases associated to chromossomopaties, neural tube and craniofacial defects)
Saudubray JM, Baumgartner M, Walter J.; Inborn Metabolic Diseases – Diagnosis and Treatment; Section I: Diagnosis and Treatment: General principles: 3 a 69, Springer , 2016 (Inherited metabolic diseases)
Leonard JV, Morris AA; Diagnosis and early management of inborn errors of metabolism presenting around the time of birth., Acta Paediatr, 2006 (Inherited metabolic diseases)
Rapoport JL, Giedd JN, Gogtay N ; Neurodevelopmental model of schizophrenia: update , Molecular Psychiatry, 2012 (Neuropsychiatric disorders)
Tenyi T; Neurodevelopment and schizophrenia: data on minor physical anomalies and structural brain imaging. , Neuropsychopharmacologia Hungarica , 2011 (Neuropsychiatric disorders)
Lu L, Mamitya T, Koseki T, Mouri A, Nabeshima T ; Genetic animal models of schizophrenia related with the hypothesis of abnormal neurodevelopment. , Biological Pharmacology Bulletin , 2011 (Neuropsychiatric disorders)
Korkmaz B; Theory of mind and neurodevelopmental disorders of childhood. , Pediatric Research , 2011 (Neuropsychiatric disorders)
Dufault R, Lukiw WJ, Crider R, Schnoll R, Wallinga D, Deth R ; A macroepigenetic approach to identify factors responsible for the autism epidemic in the United States, Clinical Epigenetics, 2012 (Neuropsychiatric disorders)
Cantor RM ; Molecular genetics of autism, Current Psychiatry Reports, 2009 (Neuropsychiatric disorders)
Campbell E, Devenney E, Morrow J, Russell A, Smithson WH, Parsons L, Robertson I, Irwin B, Morrison PJ, Hunt S, Craig J. ; Recurrence risk of congenital malformations in infants exposed to antiepileptic drugs in utero. , Epilepsia, 2012 (Neuropediatric diseases)
Trinka E, Bauer G, Oberaigner W, Ndayisaba JP, Seppi K, Granbichler CA.; Cause-specific mortality among patients with epilepsy: Results from a 30-year cohort study, Epilepsia, 2012 (Neuropediatric diseases)
Athanasopoulos T, Foster H, Foster K, Dickson G. ; Codon optimization of the microdystrophin gene for Duchene muscular dystrophy gene therapy, Methods Mol Biol., 2011 (Neuropediatric diseases)

Teaching methods and learning activities

The guiding thread of this curricular unit will be the fact that all these pathologies have in their etiology developmental defects. In each thematic unit (module) there will be theoretical (T) (3h) and theoretical-practical sessions (TP) (3h). At the end of the four modules, in TP sessions (4h), the students will present in group one clinical case and discuss it with the class.

 

Evaluation:

a) Participation on discussion (PP). These discussion forums will take place in TP sessions and will be a scattered evaluation method occurring at the end of each module. The students will be divided into small groups. One clinical case or a scientific paper will be given to each group of students for analysis. The students will be evaluated individually based on their performance in the analysis and critical discussion.

b) Presentation and discussion of a clinical case (CC). At the end of the curricular unit, each group of students will present a clinical case, of their interest, making use of the knowledge acquired along the modules. The subject of this work is free and hopefully original. It can consist on the presentation of a clinical case, new/future therapeutic approaches, relevant scientific article, literature or other. The students will be evaluated taking into consideration their presentation, content, relevance, innovation and discussion offered.

Evaluation Type

Distributed evaluation without final exam

Assessment Components

Designation	Weight (%)
Apresentação/discussão de um trabalho científico	20,00
Participação presencial	80,00
Total:	100,00

Calculation formula of final grade

Evaluation = (0.2xPP_module1) + (0.2xPP_module2) + (0.2xPP_module3) + (0.2xPP_module4) + (0.2xCC)

PP: Participation on discussion.
CC: Presentation and discussion of a clinical case.

Classification improvement

There is a possibility to improve the classification by frequency.