The European Society
of Human Genetics

Clinical Genomics and NGS 2025

Clinical Genomics and NGS

 

Course Directors

  • Christian Gilissen (Nijmegen, the Netherlands)
  • Alexander Hoischen (Nijmegen, the Netherlands)
  • Tommaso Pippucci (Bologna, Italy)
  • Malte Spielmann (Lübeck, Germany)

General Information

Dear participants,

The 37th course on Clinical Genomics and NGS is planned as a live conference in Bertinoro, Italy from May 4 – 9, 2025 (see WEBSITE for details).

In addition, a virtual attendance will be possible as follows:

  • Availability of pre-recorded talks of the morning sessions on Sunday, May 4, 2025 to Thursday, May 8, 2025 for registered (virtual) participants on May 4 where the course starts.
  • Participants registered for the virtual edition will receive access to the pre-recordings via a dedicated link.
  • On the video platform, it is possible to ask questions under each video, which will be answered by the respective speakers during the event.

Important note: no access to live talks will be possible.

To the registration

Programme

Saturday, May 3, 2025:

Arrival and dinner in cantina

Sunday, May 4, 2025 - Morning Lectures:
Medical Genetics concepts and principles

08:30-08:45 Participants Registration  
08:45-09:00 Introduction to the course T. Pippucci
09:00-09:45 Why Medical Genomics Matters D. Donnai
09:45-10:30 The architecture of monogenic disease H. Brunner
10:30-11:00 Coffee break  
11:00-11:45 Cytogenetics and arrays E. Klopocki
11:45-12:30 Complex disorders, classical gene identification and polygenic scores M. Nothnagel
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Mutation patterns H. Brunner
  Interpreting CNVs for beginners (Computer Room) E. Klopocki
  GWAS analysis and polygenic scores for beginners M. Nothnagel
  Population genomic screening D. Donnai & A. Lucassen
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Mutation patterns H. Brunner
  Interpreting CNVs for beginners (Computer Room) E. Klopocki
  GWAS analysis and polygenic scores for beginners M. Nothnagel
  Population genomic screening D. Donnai & A. Lucassen

Monday, May 5, 2025 - Morning Lectures:
Basics of NGS for Mendelian disorders

08:55-09:00 General Announcements  
09:00-09:45 Basics of next generation sequencing technology A. Hoischen
09:45-10:30 Basics of NGS bioinformatics C. Gilissen
10:30-11:00 Coffee break  
11:00-11:45 Syndromology in the NGS era S. Douzgou Houge
11:45-12:30 Ethics in Genetics A. Lucassen
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Bioinformatics Basics (Computer Room) C. Gilissen
  What if we sequenced everybody all of the time? H. Brunner
  Syndromology in the NGS era S. Douzgou Houge
  Copy number variants from exome sequencing T. Pippucci
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Bioinformatics Basics (Computer Room) C. Gilissen
  What if we sequenced everybody all of the time? H. Brunner
  Clinical Genetics in an NGS era S. Douzgou Houge
  Copy number variants from exome sequencing T. Pippucci

Tuesday, May 6, 2025 - Morning Lectures:
Novel disease mechanisms and therapy

08:55-09:00 General Announcements  
09:00-09:45 Non-coding mutations/long-range effects M. Spielmann
09:45-10:30 Cancer genomes R. van Boxtel
10:30-11:00 Coffee break  
11:00-11:45 SMA: From gene and modifier to therapy B. Wirth
11:45-12:30 Therapy and cancer J. Burn
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Variant interpretation (Computer Room) C. Gilissen & T. Pippucci
  Genetic Counselling what’s the point? J. Burn
  Non-coding mutations M. Spielmann
  Genetic Imprinting K. Temple
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Variant interpretation (Computer Room) C. Gilissen & T. Pippucci
  Genetic Counselling what’s the point? J. Burn
  Non-coding mutations M. Spielmann
  From genes to function B. Wirth
17:30 Poster viewing session with aperitif (session I)  

Wednesday, May 7, 2025 - Morning Lectures:
Cancer and Cell-free DNA

08:55-09:00 General Announcements  
09:00-09:45 Cancer genetics basics C. Oliveira
09:45-10:30 Genetic Imprinting K. Temple
10:30-11:00 Coffee break  
11:00-11:45 Cell-free DNA and its applications E. Sistermans
11:45-12:30 Near-coding variants in rare disease N. Whiffin
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Excursion

Thursday, May 8, 2025 - Morning Lectures:
New Technologies and Big Data

08:55-09:00 General Announcements  
09:00-09:45 Patterns of rare variation contributing to disease K. Samocha
09:45-10:30 Long read sequencing technologies E. Eichler
10:30-11:00 Coffee break  
11:00-11:45 Boundaries between rare and common disease A. Reymond
11:45-12:30 Massively parallel functional assays L. Starita
12:30-13:00 Discussion of the morning lectures  
13:00-14:00 Lunch Break  
Afternoon Workshops
Session I
14:00 – 15:30		    
  Interpretation of rare variants K. Samocha & N. Whiffin
  Long read sequencing E. Eichler
  Cell-free DNA and its applications E. Sistermans
  Cancer Genetics basics C. Oliveira
15:30-16:00 Coffee Break  
Session II
16:00 – 17:30		    
  Interpretation of rare variants K. Samocha & N. Whiffin
  Long read sequencing E. Eichler
  Cell-free DNA and its applications E. Sistermans
  Cancer Genetics basics C. Oliveira
17:30 Poster viewing session with aperitif (session II)  
Social dinner and farewell party

Friday, May 8, 2025 - Morning Lectures:
Highlights of the 2025 course

08:55-09:00 General Announcements  
09:00-10:00 McKusick-Romeo Lecture S. Antonorakis
10:00-10:30 Coffee break  
10:30-11:30 Quiz on: “What have you learned”?  
11:30-12:00 Best poster pitches by students  
12:00-13:00 Lunch Break
Departure after Lunch

Registration (virtual participation)

Registration Fee for virtual participation only

  • EUR 50,-
  • Deadline for registration is August 10, 2025. Please not that you have to register until May 4 if you want to submit questions for the Q&A and have them answered by the faculty.

Will the talks be available for an on-demand review?

  • Yes, review of pre-recorded talks of the morning sessions (view programme above to see which talks will be made available) will be possible for registered participants until August 31, 2025 at 23.59hrs CEST.

Registration (on-site participation)

Registration for live participation

  • EUR 980,-
  • All participants are STRONGLY encouraged to present a poster. All abstracts will be accepted. Deadline for sending Abstracts or posters: April 14, 2025.
  • You can find further information here.

Cancellation

Cancellations and refunds

Notice of cancellation must be made in writing by e-mail  to the Congress Office:
bertinoro-course(at)eshg.org

Registration fees may be refunded if written cancellation has been received as follows:

    until April 1, 2025: 50% refund
    as of April 2, 2025: no refund

The cancellation will not be effective until a written acknowledgement from the Congress Office is received. In the case of over-payment or double payment, refund requests must be made in writing and sent to the Congress Office by e-mail. No refunds will be granted for unattended events or early termination of attendance, in case of cancellation of speakers or any other incidents during the conference, which are beyond the control of the conference organisers.

No exceptions to the refund policy can be made, including health or family issues. By registering to Virtual Edition of the Bertinoro Course 2025, participants agree that neither the organising committee nor the congress office assume any liability whatsoever.

Refunds will be made after the course.

Contact

Congress Office:
WMA GmbH
Ms. Magdalena Seidl
Alser Strasse 4
1090 Vienna, Austria
T: +43 1 405 13 83 24
F: +43 1 405 13 83 924
E: bertinoro-course(at)eshg.org

Genetic Education