Understanding your Genome - An Introduction to Human Genome Analysis and Interpretation (Sommersemester 2024)

Dozent: Dr. med. Henrike Heyne (Data Analytics and Computational Statistics)

Allgemeine Information

• Semesterwochenstunden: 4
• ECTS: 6
• Benotet: Ja
• Einschreibefrist: 01.04.2024 - 30.04.2024
• Lehrform: Seminar
• Belegungsart: Wahlpflichtmodul
• Lehrsprache: Englisch

Studiengänge, Modulgruppen & Module

Beschreibung

General information

This course is designed for Digital Health master students at the Digital Engineering Faculty of the Hasso Plattner Institute (HPI) and the University of Potsdam organized by the HPI Digital Health Center (DHC), Research Group – Digital Health and Personalized Medicine.

For any additional questions, please send us a mail to uyg-teaching-team AT hpi.de.

Please register at openHPI.

Description 

The purpose of the course “Understanding Your Genome” is to introduce students to the biological, ethical, computational and analytical aspects of using personal genome information in health care and biomedical research.

The content of the lecture series covers a wide range of human genetics related topics ranging from biological background and analytical/computational aspects to reaearch and clinical application. We will start with a broad overview including ethical aspects in genetics, continue with "classical" Mendelian Genetics and then learn how human population history and evolution influence our genes and how that can affect our health. We will then dicuss how genetic data can help us to understand disease mechanisms and identify new drug targets. We also have 2-3 guest speakers discussing additional topics such as pharmacogenomics, machine learning in clinical genetics and genotyping techniques. Overall, the course will also discuss medical aspects: how to interpret disease-causing genetic mutations, how to predict diseases such as diabetes based on genomic data, and how genetic information can be used to recommend clinical treatments.

In the practical block course, we will use publicly available individual and population genomic data to understand the predictive character of genomic variants and their significance for diagnosis, prognosis and therapy in medicine. Here, students will have the opportunity to explore a selection of their own genomic data.

Voraussetzungen

There are no prerequisites for attending this class.

Literatur

Book:

Mukherjee, S. (2017). The gene. Vintage.

Papers:

• A brief history of human disease genetics:

www.nature.com/articles/s41586-019-1879-7

• Strategic vision for improving human health at The Forefront of Genomics:

www.nature.com/articles/s41586-020-2817-4

• Recent developments in genetic/genomic medicine:

doi.org/10.1042/CS20180436

• Molecular Biology of the Cell:

www.bioedonline.org/videos/content-presentations/molecular-genetics/

Lern- und Lehrformen

• Lectures, practical assignments, practical block course
• The lectures will mostly be in person at seminar room K-2.03  (few exceptions will be per zoom), the practical course will be in person at  K-2.03

Leistungserfassung

• Condition for admission to final exam (Prüfungsvorleistung):  Hand in solutions to all of the assignments/exercises

• The final grade will be determined by the final exam at the end of the course (100%).

Termine

We will meet once per week during the lecture period on Wednesdays, 1:30pm-3:00pm. The final block course is scheduled 07/22/24-07/25/2024

Mandatory Intro- Meeting 04/10/2024

  1:30pm (talk about course organization and share general information about the course.)

Students will get the opportunity to genotype and analyze their own personal DNA in the course. This introductory meeting is mandatory for participating in the personal genotyping. Your decision whether or not to take part in the personal genotyping will not affect your ability to participate in the course, will not be disclosed to the course organisers, not affect your grade and can be revoked at any time.

Introductory class: 04/17/2024

Lecturer: Dr. Henrike Heyne

Course Objectives: An introduction to genetic influences on health and disease. An introduction to ethical, legal and social implications of genetic testing including disease prediction concerning patients, healthy individuals, researchers and clinicians.

Introduction to inheritance, genetic testing, genetic counselling: 04/24/2024

Lecturer: Dr. Henrike Heyne 

Course Objectives: Understand the basics concepts of clinical genetics, including:

• Patterns of inheritance 
• An overview of human genetic variation and its effects on disease

Basic concepts of molecular genetics: 05/08/2024

Lecturer: Dr. Henrike Heyne 

Course Objectives: Understand the basics concepts of human molecular genetics, including:

• Basic principles of nucleic acid structure and gene expression 
• Fundamentals of cells and chromosomes 

Clinical phenotyping: 05/15/2024

Lecturer: Dr. Martin Mensah (Charité Berlin) 

Course Objectives: Clinical phenotyping using machine learning approaches in Clinical Genetics

Seminar - basics of human genetics - from molecules to the clinic: 05/22/2024

Lecturer: Dr. Henrike Heyne 

Course Objectives: Seminar recapitulating the basics concepts of clinical genetics and molecular genetics

Pharmacogenomics: 05/29/2024

Lecturer: Aniwaa Owusu-Obeng

Course Objectives: 

• Describe the basic principles and concepts in pharmacogenomics
• To explore the potential clinical benefits of pharmacogenomics
• Identify and review literature and clinical guidelines on common PGx examples
• Review and address relevant patient cases
• Discuss strategies used to implement pharmacogenomics into clinical practice

Population genetics and Ancestry: 06/05/2024

Lecturer: Dr. Henrike Heyne 

Course Objectives: An introduction to how population history shapes genetic variation and diversity in human genomes today. We will also discuss the importance of population genetics for genomic medicine including how eurocentric genetic research may increase existing health disparities.

Genotyping & Sequencing techniques: 06/12/2024

Lecturer: Dr. Per Hoffmann

Seminar Pharmacogenomics/Tech and Tech Check: 06/19/2024

Lecturer: Dr. Henrike Heyne, Julian Wanner

Population genetics and Ancestry 2: 06/26/2024

Lecturer: Dr. Henrike Heyne 

Seminar Population genetics and Tech Check: 07/03/2024

Lecturer: Dr. Henrike Heyne, Andrea Eoli 

Introduction to Genome Wide Association Studies (GWAS): 07/10/2024

Lecturer: Dr. Henrike Heyne

Introduction to Polygenic Risk score analysis and GWAS Seminar: 07/17/2024

Lecturer: Dr. Henrike Heyne

 

Block course: 07/22/2024 - 07/25/2024

Hands-on exercises using standard data analysis software in genetics (e.g. plink, FUMA, nextflow)

Here, students will have the opportunity to chose between analysing their own or publicly available genetic data. This will not be disclosed to the teaching staff.

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