New tools & research strategies in personalized health

BIO-491

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Course summary

About this course

SUMMARY

We will define the concept of personalized health, describe the underlying technologies, the technological, legal and ethical challenges that the field faces today, and how they are being met. You will research and prepare a project and defend it orally.

CONTENT

In line with the Health 2030 Initiative (https://health2030.ch/), this course aims to be multidisciplinary, to tackle different aspects of personalized health. Under supervision of a PI to coach you, you will study a specific problem, evaluating its basis and proposing solutions. The output will be the oral defense of your interdisciplinary project.

LEARNING PREREQUISITES
Required courses: none

LEARNING OUTCOMES

By the end of the course, the student must be able to:

  • Expound the meaning of personalised healthcare
  • Interpret data in published papers
  • Design a research project
  • Present a research project orally
  • Contextualise data with respect to the state of the field
  • Defend a research project
  • Synthesize published data to produce a project
  • Give an example of personalised healthcare

    TRANSVERSAL SKILLS
  • Summarize an article or a technical report
  • Make an oral presentation
  • Write a literature review which assesses the state of the art
  • Write a scientific or technical report
  • Manage priorities
  • Take feedback (critique) and respond in an appropriate manner
  • Use a work methodology appropriate to the task
  • Assess progress against the plan, and adapt the plan as appropriate
  • Collect data
  • Continue to work through difficulties or initial failure to find optimal solutions
  • Use both general and domain specific IT resources and tools

TEACHING METHODS

Ex-cathedra lectures. Group work on specific projects.

EXPECTED STUDENT ACTIVITIES
  • Attend all the lectures.
  • Preparation of research project in the field of personalized medicine.
  • Oral presentation/defense of research proposal.
  • Active participation to discussions.
  • Work in small groups.

ASSESSMENT METHODS

Written: a mid-term individual assessment (MCQ) based on the lectures (30% of final grade).
Oral: presentation of a project: quality of slides, clarity and content of presentation, ability to answer questions (70% of final grade).
Research summary: relevance to personalized medicine, explanation of relevant background, explanation of research strategy. Multidisciplinary approach.

SUPERVISION

TAs for group work and occasional meeting(s) with the PI coach.

RESOURCES

Bibliography: no prerequisite.
Notes/Handbook: when possible, copies of the slides will be provided.

Marc Friedli & Didier Trono


20 February 2025

15.15-16.00
Marc Friedli, Scientist, Unit of Precision Medicine, EPFL // Program Manager, Health 2030 (https://health2030.ch)
New tools and research technologies in personalized health: Introduction

16.15-18.00
Katrin Männik, Head of Genomics Strategy, Health 2030 Genome Center, Geneva
Opportunities and challenges of implementing genomic medicine
___________________________________________________________________________________________________________________________

Marc Friedli, PhD, Manager of Health 2030. Marc Friedli obtained his  PhD in Biology from the University of Geneva, specialising in transgenesis and functional genomics. He completed postdoctoral research at the EPFL, with a focus on epigenetics, stem cells, and transposable elements. As the Program Manager for the Health 2030 Initiative at EPFL's Unit of Precision Medicine, Marc drives genomics research, education, and clinical applications. He helped establish the Genome Center as a national hub and collaborated with organisations like SPHN, PHRT, and the Federal Office of Public Health. Marc was instrumental in Switzerland's genomic response to COVID-19, setting up a testing center at EPFL and coordinating the FOPH-funded national genomic surveillance program since 2021, integrating advanced science  to improve public health.


Katrin Männik was trained in biomedicine, molecular diagnostics and gene technology. She received a PhD from the University of Tartu in 2012. Following post-doctoral training at the Center for Integrative Genomics at the University of Lausanne, she worked as a Research Associate at the University of Lausanne and at the Estonian Genome Center (Estonian population-based biobank). She joined the Health 2030 Genome Center in November 2019.

Her research, supported by the European Commission, the Swiss National Science Foundation and the Jacobs Foundation, has been mainly focused on genetic variants underlying neurodevelopmental disorders and variability of complex traits in the population.

She has authored and co-authored numerous studies published in the top scientific and medical journals (e.g. JAMA, Nature, Am J Hum Genet), and presented platform talks in main international scientific conferences in the field of human genetics and personalized medicine. 

Besides basic research she has a longtime interest in translational and ethical aspects related to the usage of genetic data in healthcare. Katrin Männik has been participating in various initiatives aiming to reach out to the medical community and to society. She is actively involved in national and international projects that work towards maximizing the impact of research and setting the ground for the emergence of personalized medicine (© Campus Biotech).



27 February 2025


15.15-16.00
Raphael Gottardo, Director, Translational Biomedical Data Science Group @ CHUV & Full Professor in the Faculty of Biology and Medicine @ UNIL
Leveraging Single-Cell and Spatial Data for Personalized Health: A Computational Perspective

16.15-17.00
Marcel Salathé, Digital Epidemiology Lab, EPFL
Digital cohorts & AI in health

17.15-18.00
Flavia Hodel, Data scientist, Precision Medicine Unit, CHUV
Genomic Medicine

________________________________________________________________________________________________________________________

Raphael Gottardo is a Full Professor of Biomedical Data Science at the University of Lausanne and the founding director of the Biomedical Data Science Center at the University Hospital of Lausanne. Before that, he was a Full Professor in the Vaccine and Infectious Disease Division at Fred Hutch, an affiliate Professor of statistics at the University of Washington, and scientific director of the Fred Hutch Translational Data Science Integrated Research Center. Raphael’s current research interests center on developing computational and statistical tools for analyzing high-dimensional immunological data with applications to vaccine research and immunotherapy. He has led a large number of projects funded by the National Institutes of Health, the Gates Foundation, and the Chan-Zuckerberg Initiative, to name a few. In 2018, he received the Mortimer Spiegelman Award, which honors a statistician below 40 who has made outstanding contributions to health statistics.


Marcel Salathé is a Swiss digital epidemiologist and associate professor at EPFL, where he leads the Lab of Digital Epidemiology and co-directs the EPFL AI Center. His research explores the intersection of epidemiology, artificial intelligence, and digital technology to address public health challenges. During the COVID-19 pandemic, he became a prominent voice in Swiss media, providing scientific insights and policy guidance. In 2020, he was appointed director of the steering committee for the Swiss COVID-19 national research program.

Marcel is a pioneer in digital epidemiology, coining the term in a 2012 publication. His work focuses on analyzing digital data streams, such as social media and mobile phone data, to gain epidemiological insights. He played a key role in developing digital contact tracing systems, notably the SwissCovid app—the first government-backed app based on Google’s and Apple’s Exposure Notifications System.

In recent years, his research has expanded into AI-driven nutritional epidemiology, developing digital tools for high-resolution food tracking in medical cohorts. Through his work, Salathé continues to advance data-driven approaches to public health and disease prevention.


Flavia Hodel is a researcher and data analyst with a strong background in computational and quantitative biology, specializing in human genomics. She holds a Ph.D. in Computational and Quantitative Biology (EDCB) from EPFL, where her doctoral research focused on using genome-wide genotyping data, bioinformatics tools, and statistical methods to investigate the interplay between human genetic variation, persistent infections, and chronic inflammation, particularly in relation to coronary artery disease.

Since 2022, Flavia has been working as a Data Analyst in Human Genomics at CHUV, within the Precision Medicine Unit. Her work centers on population pharmacogenetic studies, exploring the genetic determinants of therapeutic response and drug toxicity under real-life clinical conditions.

In 2024, she co-founded Diabète Type Sport, a non-profit association that brings together healthcare professionals and individuals living with diabetes. The organization is dedicated to promoting physical activity among adults with diabetes through sports events, races, and tailored training sessions, fostering a supportive community aimed at improving overall well-being.

Flavia's expertise spans human genomics, computational biology, and precision medicine, with a strong commitment to advancing research and community health initiatives.


6 March 2025


15.15-17.00
Gaia Barazzetti, Research Ethics Compliance Officer, Research Office, EPFL
Ethical and social issues in personalized health

17.15-19.00
Ioannis Xenarios, CHUV-UNIL, Health 2030 Genome Center
Highthroughput bioinformatics

_____________________________________________________________________________________

Gaia Barazzetti is Research Ethics Compliance Officer at the EPFL Research Office/Ethics Affairs. She has extensive experience in research ethics compliance and a broad knowledge of the ethical and regulatory frameworks applicable to various areas of research, including research involving human subjects, animal research, research integrity, data management, data protection, pharmaceuticals and medical devices, conflicts of interests, and dual-use research.
Gaia's research works address issues of public interest in the areas of biomedical research, healthcare innovation, digitalization, sustainability and emerging technologies, with a strong commitment to stakeholder and public engagement, policy impact, and public outreach. She conducted several research projects on ethical issues in genomic research and on public engagement with personalized health.
Her teaching activities aim to improve student's abilities to assess and address ethical issues in research and to improve compliance with the ethical standards.
As Research Ethics Compliance Officer, Gaia's mission is to support EPFL research community in all ethics related issues of research projects.

Ioannis Xenarios is a trained computational immunologist who received a PhD from the University of Lausanne and the Ludwig Institute for Cancer Research. During his study he taught bioinformatics and computational biology in the early days of bioinformatics to student in biochemistry. At the end of his PhD he moved to UCLA University of California Los Angeles where he worked on several comparative genomics and interactions databases to study complexity of cellular networks. He then moved to Serono (later bought by Merck into Merck-Serono) to lead the development in proteomics and genomics in both translational and early discovery. He then led the group of Vital-IT and Swiss-Prot at the SIB Swiss Institute of Bioinformatics for eleven years where he developed with his team methods in non invasive prenatal diagnostic, early biomarker discovery in diabetes, neo-antigen, systems immunology in cancer biology, integrative biology and proteogenomics approaches.

He is also a professor of computational biology and bioinformatics at the University of Lausanne and a Professeur titulaire at the University of Geneva.

He has now a secondment at the Genome Center to develop and lead the establishment of the Data Analytics and Interpretation Platform.

Ioannis Xenarios served on several national and international body (ESFRI, IMI-JU, FRM and several computational and non-computational journals).
©Health 2030 Genome Center


13 March 2025


15.15-17.00
Caroline Samer, Pharmacogenomics and Personalised Therapy Unit, HUG & UNIGE
Pharmacogenomics and personalized therapies: the right drug at the right dose for the right patient

17.15-19.00
Mina Bjelogrlic, Head of Machine Learning, Human-Machine Interfaces in clinical settings Group, UNIGE
Leveraging Electronic Health Records, Medical Knowledge, and Information Technologies for Medical Discoveries

_____________________________________________________________________________________________________________________

Caroline Samer is Associate Professor, Department of Anesthesiology, Pharmacology, Intensive Care, and Emergency Medicine,
Faculty of Medicine, University of Geneva (UNIGE), and Chief Physician, Service of Clinical Pharmacology and Toxicology, Geneva University Hospitals (HUG).

Caroline Samer obtained her medical degree in 2001 in Geneva. After specializing in internal medicine and clinical pharmacology and toxicology, she completed a PhD in pharmacogenomics, followed by a postdoctoral fellowship in molecular pharmacology in Sydney. Returning to HUG in 2009 as a chief resident and later as an attending physician, she was appointed head of the Therapeutic Information Center in 2015 within the Service of Clinical Pharmacology and Toxicology, and in 2019, she took charge of the Pharmacogenomics and Personalized Therapy Unit.

Her research focuses on personalizing and securing drug therapy (precision medicine approach) by measuring gene-environment-disease interactions at the pharmacokinetic level and leveraging advances in various -omics technologies, particularly pharmacogenomics. She also serves as President of the Swiss Group for Pharmacogenomics and Personalized Therapy, Vice-President of the Geneva Canton Research Ethics Commission, President-elect of the Swiss Society of Clinical Pharmacology and Toxicology, Chair of the Clinical Section and Executive Committee Member of the International Union of Basic and Clinical Pharmacology (IUPHAR), as well as a Board Member of the Council for International Organizations of Medical Sciences (CIOMS).

Appointed Privat-Docent at the Faculty of Medicine of UNIGE in 2017 and Assistant Professor in 2020, she was promoted to Associate Professor in October 2022 within the Department of Anesthesiology, Pharmacology, Intensive Care, and Emergency Medicine and Chief Physician of the Service of Clinical Pharmacology and Toxicology at HUG. ©UNIGE

Mina Bjelogrlic holds a Phd in Computational Electromagnetics (June 2018) and a Master in Electrical Engineering from EPFL, Lausanne, Switzerland. During her studies she focused on computational electromagnetics and signal processing for biomedical applications. Her research focused especially on microwave imaging for brain stroke detection and monitoring, where she developed tools for both modeling electromagnetic fields at high frequencies (up to 6 GHz) in very heterogeneous biological tissues and for the inverse problem resolution (imaging task). Since November 2018, her studies focus on the application of NLP tools, biomedical signal processing, and learning algorithms to medical data. ©HUG



20 March 2025


15.15-17.00
Joël Wagner, Department of Actuarial Science, Faculty of Business and Economics (HEC Lausanne)
Economical and governance aspects of personalized health

17.15-19.00
Nathalie Brandenberg, PhD, Co-Founder, SUN bioscience SA and Doppl SA
The Role of Organoids in Precision Health

_____________________________________________________________________________________________

Since 2014, Joël Wagner is a Full Professor in the Department of Actuarial Science at the HEC Faculty of the University of Lausanne. He is also a member of the Swiss Finance Institute at University of Lausanne (since 2017) and invited lecturer at the Swiss Federal Institute of Technology Lausanne (EPFL). He currently serves on the Board of Directors of Retraites Populaires (since 2019, Chairman 2020-2021) and La Luxembourgeoise (Lalux Group, Lalux Assurances, Lalux Assurances-Vie, since 2022). He is a former member of the Swiss Occupational Pension Supervisory Commission (CHS PP, 2018-2019).
The group of Joël Wagner contributes to the research and teaching activities of the Department of Actuarial Science and HEC Lausanne in the field of risk management and insurance. A broad range of topics from both theoretical and practical viewpoints are in the scope of research. The main focus is on risk management, insurance economics and actuarial science, covering selected topics in life, health, pension and non-life insurance as well as issues in insurance management and innovation. In particular, the group aims at contributing to bridge the gap between academia and industry practice, and at promoting insurance research insights in the French-speaking area of Switzerland and beyond.©UNIL

Nathalie Brandenberg is a pioneer in organoids research. Swiss born, she is a serial entrepreneur, innovator and scientist. In 2014, she designed with Sylke Hohnel-Ka the first technology enabling organoid culture at scale, commercialised as Grid3D by SUN Bioscience, the company they cofounded. In 2022, they established Doppl to propel organoid research for pharmaceutical, nutrition and clinical applications. Nathalie was CSO at Doppl, executive board member at Doppl and Sun Bioscience until December 2024 and holds various advisory board positions in the healthcare sector in Switzerland.

Nathalie holds a MSc and a PhD in Bioengineering and Biotechnology from EPFL (2011, 2017) as well as an executive MBA from University of Lausanne (2022). She was selected in the Forbes’ inaugural 30 Under 30 Europe list in the category Science and Health Care, was a finalist for the Swiss Economic Forum Woman Award in 2021 and she was awarded the EPPL alumni award in 2022, at solely 35 years old.



27 March 2025


15.15-17.00
Friedhelm Hummel, Institute Neuro-X and Defitech Chair of Clinical Neuroengineering, EPFL
Towards personalized treatment strategies in neurological disorders

17.15-17.30
Marc Friedli
Q&A, projects, group work and presentations

______________________________________________________________________________________________________

Friedhelm Hummel was trained in Medicine at the University of Tuebingen (Germany) and the University of Bordeaux (France). He received his training to become a certified neurologist at the University Medical Centers in Tuebingen (Germany) and Hamburg (Germany). After his post-doctoral appointment at the National Institute of Neurological Disorders and Stroke (NINDS, NIH) in Bethesda, MD (USA) and the Department of Neurology in Tuebingen (Germany), he established the BrainImaging and NeuroStimulation (BINS) Laboratory at Hamburg University Medical Center. Furthermore, he worked clinically as Leading Senior Attending and from 2013 as Vice-Director of the Department of Neurology.
Since September 2016 he is appointed as Defitech Foundation Chair in Clinical Neuroengineering. He further holds an Associate Professorship of the Department of Clinical Neuroscience, University Medical Center of Geneva and a Guest Professorship at Favoloro University, Buenos Aires, Argentina.

Hummel's research targets the fields of systems and translational clinical neuroscience with three main areas of focus.

The first focus is on using multimodal imaging and behavioral measures to study neuroplasticity, neuronal control of sensorimotor functions, learning, and cognitive functions in healthy and neurological disorders, such as stroke, mild cognitive impairment (MCI) or traumatic brain injury (TBI).

The second main focus is on developing innovative non-invasive interventional strategies based on neurotechnology, such as brain stimulation to support patients' residual functions and enhance recovery. He has been involved in the application of non-invasive brain stimulation in stroke.

The third focus is the use of multimodal imaging to predict outcome and course of recovery after a stroke, a prerequisite for personalized treatment strategies.
©Wikipedia & Campus Biotech.



3 April 2025


15.15-17.00
Murielle Bochud, Department of Epidemiology and Health System, Unisanté, Lausanne
Precision nutrition

17.15-19.00
Filipe Martins, Dana-Farber Cancer Institute, Boston
Precision medicine in cancer
_____________________________________________________________________________________________________

Murielle Bochud has been Head of the Department of Epidemiology and Health Systems at Unisanté since the creation of the center in January 2019, and Co-Head since August 2022. The department comprises more than one hundred staff members.

In 2017, she was appointed Director of the Institute of Social and Preventive Medicine (IUMSP) following the retirement of Prof. Fred Paccaud. In 2017 and 2018, she contributed to the Alliance Santé project, which led to the creation of the Center for Primary Care and Public Health, known as Unisanté.

From 2014 to 2017, she managed the Division of Chronic Diseases at the IUMSP and was appointed Full Professor at the Faculty of Biology and Medicine (FBM) in 2014.

Professor Bochud is known for her research on the epidemiology of cardio-metabolic diseases and risk factors, as well as in the fields of nutritional and genetic epidemiology. She has been actively involved in several cohort and population-based studies. ©Unisanté

Filipe Martins, currently at ​the Dana-Farber Cancer Institute in Boston, is a medical oncologist who completed his predoctoral studies at the University of Geneva and obtained his M.D. from the University of Lausanne (UNIL). He receievd his Ph.D. at EPFL, where he studied the role of KRAB zinc finger proteins (KZFPs) in diffuse large B-cell lymphoma, focusing on their impact on the cancer epigenome and immune response. 
Current research: ​Filipe is identifying epigenetic regulators controlling transposable element-mediated inflammatory responses and genome stability. He is particularly focused on targeting 'viral mimicry' pathways as a therapeutic strategy.  
Filipe's work is supported by a Postdoc Mobility fellowship from the Swiss National Science Foundation. ©Dana-Farber Cancer Institute

꧂꧂꧂꧂꧂꧂

Projects 2025
1.    Population scale sequencing: The Genome of Switzerland
2.    Rapid whole-genome sequencing in hospitalised infants: focus on pediatric oncology
3.    How to develop Precision Nutrition based on sustainable diets
4.    Leveraging Large Language Models (LLMs) for Personalized Health
5.    Economical and governance aspects of personalized health
6.    Development of an In-Vitro Functional Assay for Personalized Oncology Treatment
7.    Diagnostic and therapeutic applications of molecular profiling in a given malignancy: Build a therapeutic strategy on a hypothetical patient cancer case
8.    Project in Genomic Medicine: To develop a personal pharmacogenomic passport to improve drug prescription
9.    Beyond Healthcare Thresholds

May 15th
1.    Population scale sequencing: The Genome of Switzerland (Katrin Männik)
5.    Economical and governance aspects of personalized health (Joël Wagner)
6.    Development of an In-Vitro Functional Assay for Personalized Oncology Treatment (Nathalie Brandenberg)
7.    Diagnostic and therapeutic applications of molecular profiling in a given malignancy: Build a therapeutic strategy on a hypothetical patient cancer case (Filipe Martins)
8.    Project in Genomic Medicine: To develop a personal pharmacogenomic passport to improve drug prescription (Simon Tang)
9.    Beyond Healthcare Thresholds (Mina Bjelogrlic)

May 22nd
4.    Leveraging Large Language Models (LLMs) for Personalized Health (Marcel Salathé)
2.    Rapid whole-genome sequencing in hospitalised infants: focus on pediatric oncology (Ioannis Xenarios & Marc Friedli)
3.    How to develop Precision Nutrition based on sustainable diets (Murielle Bochud)


10 April 2025

15.15-16.45
!!! Midterm written exam !!!

17 April 2025

Group Work 1/3

No class scheduled—group work can be completed at your convenience.


24 April 2025

Easter week

1 May 2025

Group Work 2/3

No class scheduled—group work can be completed at your convenience.


8 May 2025

Group Work 3/3

No class scheduled—group work can be completed at your convenience.


15 May 2025

Thursday May 15th, 2025
15.15-15.55 15.55-16.35  16.35-17.15 17.15-17.55 17.55-18.35 18.35-19.15
Project 8:  To develop a personal pharmacogenomic passport to improve drug prescription - Simon Tang
TA: X
Students:
melis.ates@epfl.ch
emma.forget@epfl.ch
eva.quinto@epfl.ch
nithujaa.thirunavukkarasu@epfl.ch
         
  Project 5: Economical and governance aspects of personalized health - Joël Wagner
TA: X
Students:
marta.reissantos@epfl.ch
pauline.richard@epfl.ch
sofia.bousseta@epfl.ch
anna.cachard@epfl.ch
       
    Project 1: Population scale sequencing: The Genome of Switzerland - Katrin Männik
TA: chiara.colosimo@epfl.ch
Students:
gianna.biino@epfl.ch
aurel.drouart@epfl.ch
clemence.rey@epfl.ch
benoit.aubert@epfl.ch
     
      Project 9: Beyond Healthcare Thresholds - Mina Bjelogrlic
TA: ?
Students:
loris.castagnolo@epfl.ch
alexia.delestapissonnendrucker@epfl.ch
martin.denervaud@epfl.ch
anaelle.frey@epfl.ch
   
        Project 6: Development of an In-Vitro Functional Assy for personalized Oncology Treatment - Nathalie Brandenberg
TA: alice.pellegrino@epfl.ch
Students:
lison.ravassard@epfl.ch
sandra.tanackovic@epfl.ch
zoe.vogler@epfl.ch
cyann.sprungli@epfl.ch
 
          Project 7: Build a therapeutic strategy on a hypothetical patient cancer case - Filipe Martins
TA: roger.diazcodina@epfl.ch
Students:
ayush.dalmia@epfl.ch
elena.mrda@epfl.ch
maria.ruizizquierdo@epfl.ch
emma.munck@epfl.ch

15.15-19.00
(mandatory attendance for the entire duration)

Exams : group presentations (part 1 of 2)

22 May 2025

Thursday May 22nd, 2025
15.15-15.55 15.55-16.35  16.35-17.15 17.15-17.55
Project 4: Leveraging Large language Models (LLMs) for personalized Health - Marcel Salathé
TA: ece.yatikci@epfl.ch
Students:
veronika.podliesnova@epfl.ch
andrew.salem@epfl.ch
viola.renne@epfl.ch
ray.nasr@epfl.ch
     
  Project 3: How to develop Precision Nutrition based on sustainable diets - Murielle Bochud
TA: X
Students:
oriane.grandjean-pierazzi@epfl.ch
salma.mamdouhe@epfl.ch
nestor.melissargos@epfl.ch
farouk.himmiche@epfl.ch
   
    Project 3: How to develop Precision Nutrition based on sustainable diets - Murielle Bochud
TA: X
Students:
pauline.charpentier@epfl.ch
hortense.liaras@epfl.ch
mila.valli@epfl.ch
sara.vannay@epfl.ch
 
      Project 2: Rapid whole-genome sequencing in hospitalised infants - Ioannis Xenarios & Marc Friedli
TA: X
Students:
manon.borlet-hote@epfl.ch
axel.croonenbroek@epfl.ch
elena.dimitratchkova@epfl.ch
manon.sierra@epfl.ch


29 May 2025

Ascension


Projects


Program of presentations & instructions