IDENTIFYING DATA

2018_19

Subject (*)

MOLECULAR PATHOLOGY

Code

19204209

Study programme

Bachelor's Degree in Biotechnology (2009)

Cycle

1st

Descriptors

Credits

Type

Year

Period

Optional

Language

Català

Department

Biochemistry and Biotechnology

Coordinator

GALLART MILLAN, LUIS MELCHOR

E-mail

luismelchor.gallart@urv.cat

Lecturers

GALLART MILLAN, LUIS MELCHOR

Web

General description and relevant information

The subject deals with the molecular events that occur when certain genetic changes result in clinical phenotypes. It is intended that the student of the last year of the Biotechnology degree will be able to carry out a work in which the new knowledge will be integrated with those previously acquired. It is important for the student to be aware of the speed of changes in biomedicine and the potency of biotechnology in diagnoses and treatments.

Competences

Type A	Code	Competences Specific
	A4	Know and understand in an integrated manner the organisms at molecular, cellular and metabolic level.
	A7	Be able to search, obtain, analyse and interpret information from the main biological databases: genomic, transcriptomic, proteomic, metabolomics, taxonomic and other, as well as bibliographic data, and use basic bioinformatics tools.
Type B	Code	Competences Transversal
	B4	Autonomy, responsibility and initiative
Type C	Code	Competences Nuclear
	C3	Be able to manage information and knowledge

Learning outcomes

Type A	Code	Learning outcomes
	A4	Understand how different types of molecular disorders can cause illness to humans.
	A7	Be able to find recent information on the molecular biology of human pathologies in the scientific bibliography and databases.
Type B	Code	Learning outcomes
	B4	Present results in the appropriate way in accordance with the bibliography provided and before the deadline.
Type C	Code	Learning outcomes
	C3	Locate and access information effectively and efficiently.

Contents

Topic	Sub-topic
A. Lessons 1. Introduction: Genetic variation and its types. Type of inheritance. Concepts 2. Monogenic diseases: Introduction. Silent mutations. Fatal family insomnia Swyer Syndrome. 3. Mitochondrial Diseases: Introduction. MELAS. LOH 4. Polygene & multifactorial illnesses: Introduction. Epidemiology of Cancer. Breast cancer. Diabetes B. Genetic problems C. Seminars

Planning

Methodologies :: Tests

Competences

(*) Class hours

Hours outside the classroom

(**) Total hours

Introductory activities

Assignments

Scientific and/or communication events

Presentations / oral communications

Personal attention

Problem solving, exercises in the classroom

Mixed tests

(*) On e-learning, hours of virtual attendance of the teacher.
(**) The information in the planning table is for guidance only and does not take into account the heterogeneity of the students.

Methodologies

Methodologies

	Description
Introductory activities	Introduction to molecular pathology. Explanation of the way of working. Explanation of what is expected of the students and how the subject will be evaluated. Recommendations and methodologies.
Assignments	Writing work about a genetic disease.
Scientific and/or communication events	Explanation of diseases with a genetic basis. Seminars
Presentations / oral communications	Exhibition of the work done by the students.
Personal attention	Teacher's help on the doubts raised by the students in the development of the work. Advice on the index, the exhibition, the writing in general and the format.
Problem solving, exercises in the classroom	Genetics problems of inheritance type, markers, etc.

Personalized attention

Description

Student inquiries, on Mondays at the end of the class. Via email: luismelchor.gallart@urv.cat

Assessment

Methodologies

Competences

Description

Weight

Assignments

Individual work or in pairs.

10%

Scientific and/or communication events

Part of the final written exam.

65%

Presentations / oral communications

Oral presentation.

Problem solving, exercises in the classroom

Part of the final exam.

20%

Mixed tests

Proposal of questions about the topics discussed in class.

Answer to the questions related to all the present works (both your own and that of your colleagues).

65%

Others

Other comments and second exam session

To pass the subject it will be necessary to pass each one of the evaluation tests (Work + Presentation and Written Exam).

The second call consists of a final exam of the subject with similar characteristics to the first call.

During the evaluation tests, mobile phones, tablets, ... and other devices that are not expressly authorized by the test, must be turned off and out of sight. The demonstratively fraudulent realization of any evaluative activity of any subject in both material and virtual and electronic support entails the student the failure mark of this evaluative activity. Regardless of this, given the seriousness of the facts, the center can propose the initiation of a disciplinary file, which will be initiated by resolution of the rector.

Sources of information

Basic
	Killeen, A A. "Principles of Molecular Pathology" Humana Press, Totowa, New Jersey. ISBN: 1-58829-085-9, E-ISBN: 1-59259-431-X J.J. Guinovart; F González Sastre. “Patología Molecular” (2003) editorial Masson. ISBN: 9788445812532 WB Coleman, GJ Tsongalis. Molecular Pathology. The Molecular Basis of Human Disease. Ac Press Elsevier ISBN: 978-0-12-374419-7 Tom Strachan & Andrew Read, The 4th Edition (2010) of 'Human Molecular Genetics'. Garland Science Publishing. ISBN: 978-0815341499 (web de lliure accès de la segona edició http://www.ncbi.nlm.nih.gov/books/NBK7580/) Thompson & Thompson. “Genetics in Medicine” ISBN-10: 1416030808 \| ISBN-13: 978-1416030805 \| Edition: 7
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Other comments
Per a aquesta assignatura es considera molt important el treball autònom, ja sigui indivudual o en grup.

(*)The teaching guide is the document in which the URV publishes the information about all its courses. It is a public document and cannot be modified. Only in exceptional cases can it be revised by the competent agent or duly revised so that it is in line with current legislation.

Thompson & Thompson. “Genetics in Medicine”