Human Genetics

Human Genetics
Health & Medical Sciences
Universidad de Salamanca - Cursos Internacionales

DESCRIPTION AND OBJECTIVES:

The human genome sequence forms the cornerstone of contemporary human genetics. This course will cover hereditary and molecular genetics as it applies to humans, with a strong genomics and human disease perspective. It will cover transmission genetics, the Human Genome Project, Identification of human disease genes, modern technologies for genome analysis, personal genomics and cancer genomics. We will also discuss current topics such as genetic testing.

The Objectives are to:

1) Provide a solid understanding of the concepts and scientific methods of modern genetics as it applies to humans.
2) Develop a better appreciation of the power and the limitations of a genetics- centric view of human biology and disease.
3) Develop conceptual skills to address questions in genetics research and clinical practice
4) Develop critical thinking with regard to news reports of advances in genetics and their social implications.

CONTENTS:

- Introduction to human molecular genetics

- Methods of inheritance and pedigree analysis of single gene diseases (Practical training)

- Basics of cytogenetic methods

- Methods of genome analysis: CGH array (Practical training in laboratory)

- Basics of molecular genetic methods

- Methods of genome analysis: DNA extraction I (Practical training in laboratory)
- Methods of genome analysis: DNA extraction II (Practical training in laboratory)
- Methods of genome analysis: PCR and electrophoresis (Practical training in laboratory)
- DNA sequencing: Sanger and NGS

- Methods of genome analysis: Sanger sequencing and data analysis (Practical training in laboratory)
- Copy number variations (CNVs)

- Methods of genome analysis: MLPA I (Practical training in laboratory)

- Methods of genome analysis: MLPA II (Practical training in laboratory)

- Epigenetics and imprinting

- Methods of genome analysis: MS-MLPA (Practical training in laboratory)

- Chromosomal, monogenic and multifactorial genetic diseases

- Medical genetic knowledge database

ATTENDANCE:

Attendance will be compulsory. To obtain an academic certificate a minimum of 85% is required. This percentage corresponds to a total of 3 classes in the fall semester (classes of 2 hours).

Participation in class (asking and answering questions), and in the online discussion group will contribute a maximum of another 10 points. There will be occasional homework assignments.
These will not be graded for correct answers, but you need to complete them online before the deadline if you want to get full points for participation.
The points you can get from quizzes and participation are a bonus (see below). In theory, you could get an A without doing any of the quizzes or participating, though it won't be easy. The bonus constitutes about 3% of your total grade, so it can make all the difference between one grade and the next.

EXAMS:

There will be one mid-term exam given during the course, and a comprehensive final exam. Each exam will be worth 100 points. The mid-term exam will deal with material covered during the first part of the course. The best preparation for the exam is to regularly attend class, review your notes and text after every lecture, and solve any assigned problems. In class exams will last for 120 minutes, which is the normally allotted time for the class meeting. Attendance at all mid-term exams is mandatory.

Grading will follow both the European numerical grading system and the North American letter system:

9.5 - 10 = Sobresaliente = A+
9 - 9.49 = Sobresaliente = A
8.5 - 8.9 = Sobresaliente = A-
8 - 8.49 = Notable = B+
7.5 - 7.9 = Notable = B
7 - 7.49 = Notable = B-
6.5 - 6.9 = Aprobado = C+
6 - 6.49 = Aprobado = C
5 - 5.9 = Aprobado = C-

Less than 5 = Asistencia/Fail

NOTE: Student must attend at least 85% of class in order to pass.