Understanding Your Genome – An Introduction to Human Genome Analysis and Interpretation (Sommersemester 2022)

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

General Information

• Weekly Hours: 4
• Credits: 6
• Graded: yes
• Enrolment Deadline: 01.04.2022 - 30.04.2022
• Examination time §9 (4) BAMA-O: 15.08.2022
• Teaching Form: Seminar
• Enrolment Type: Compulsory Elective Module
• Course Language: English
• Maximum number of participants: 20

Programs, Module Groups & Modules

Description

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 understanding-your-genome AT lists.myhpi.de

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. Finally, we have several 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.

Requirements

Digital Health Master Students

Literature

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/

Learning

• Lectures, practical assignments, practical block course
• The lectures will mostly be in person at seminar room G1.E15/16 at the DHC (few exceptions will be per zoom), the practical course will be in person at G1.E15/16.

Examination

• 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%).

Dates

We will meet once per week during the lecture period on Tuesdays, 3:15pm-4:45 pm. The final block course is scheduled for 08/01/- 08/05/2022.

Mandatory Intro- Meeting (zoom)

04/19/2022  3:15pm (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: 04/26/2022 (ONLINE!)

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: 05/03/2022

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: 05/10/2022

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 

Seminar - basics of human genetics - from molecules to the clinic: 05/17/2022

Lecturer: Dr. Henrike Heyne 

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

Population genetics: 05/24/2022

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.

Ancestry: 05/31/2022

Lecturer: Dr. Till Andlauer

Seminar Population genetics: 06/07/2022

Lecturer: Dr. Henrike Heyne 

Introduction to GWAS: 06/14/2022

Lecturer: Dr. Henrike Heyne

GWAS 2: 06/21/2022

Lecturer: xxx

GWAS Seminar: 06/28/2022

Lecturer: Dr. Henrike Heyne

Genomic Medicine and Machine Learning: 07/05/2022

Lecturer: Dr. Martin Mensah, Charité

Course Objectives: Overview: Machine Learning approaches in Clinical Genetics

Pharmacogenomics: 07/12/2022

Lecturer: Aniwaa Owusu-Obeng, PharmD

Course Objectives: At the end of this lecture, students will be able to:

• 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

Genotyping & Sequencing techniques: 07/19/2022

Lecturer: Dr. Per Hoffmann

Seminar and technical check for block course: 07/26/2022

Lecturer: Dr. Henrike Heyne, Tamara Slosarek

Block course: 08/01/- 08/05/2022

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

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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