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 36th course on Clinical Genomics and NGS is planned as a live conference in Bertinoro, Italy from May 4 – 10, 2024 (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 5, 2024 to Friday, May 10, 2024 for registered (virtual) participants on May 5 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.
Programme
Saturday, May 4, 2024:
Arrival and dinner
Sunday, May 5, 2024 - Morning Lectures:
Medical Genetics concepts and principles
| 08:30-09:00 | Participants Registration | |
| 08:50-09:00 | 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 | Syndromology in the NGS era | S. Douzgou Houge |
| 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 | |
| Clinical Genetics in an NGS era | S. Douzgou Houge | |
| Optical genome mapping | A. Hoischen | |
| 15:30-16:00 | Coffee Break | |
| Session II 16:00 – 17:30 | ||
| Mutation patterns | H. Brunner | |
| Interpreting CNVs for beginners (Computer Room) | E. Klopocki | |
| Clinical Genetics in an NGS era | S. Douzgou Houge | |
| Whole genome versus exome sequencing | T. Pippucci |
Monday, May 6, 2024 - Morning Lectures:
Basics of NGS for Mendelian disorders
| 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 | NGS in patient care | L. Snijders Blok |
| 11:45-12:30 | Long read sequencing technologies | E. Eichler |
| 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 & T. Pippucci | |
| Recessive Carriers and PGT | H. Brunner | |
| NGS in a clinical setting: pitfalls and possibilities | L. Snijders Blok | |
| Long read sequencing | E. Eichler | |
| 15:30-16:00 | Coffee Break | |
| Session II 16:00 – 17:30 | ||
| Bioinformatics Basics (Computer Room) | C. Gilissen & T. Pippucci | |
| Recessive Carriers and PGT | H. Brunner | |
| NGS in a clinical setting: pitfalls and possibilities | L. Snijders Blok | |
| Long read sequencing | E. Eichler |
Tuesday, May 7, 2024 - Morning Lectures:
Therapy and novel disease mechanisms in the NGS era
| 09:00-09:45 | Non-coding mutations/long-range effects | M. Spielmann |
| 09:45-10:30 | Boundaries between rare and common disease | A. Reymond |
| 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 Imprinting | K. Temple | |
| Genetic Counselling what’s the point? | J. Burn | |
| Non-coding mutations | M. Spielmann | |
| 15:30-16:00 | Coffee Break | |
| Session II 16:00 – 17:30 | ||
| Variant interpretation (Computer Room) | C. Gilissen & T. Pippucci | |
| From genes to function | B. Wirth | |
| Genetic Counselling what’s the point? | J. Burn | |
| Non-coding mutations | M. Spielmann | |
| 17:30 | Poster viewing session with aperitif (session I) |
Wednesday, May 8, 2024 - Morning Lectures:
Cell-free DNA and Mosaicism
| 09:00-09:45 | Somatic mutations and cancer | T. Rausch |
| 09:45-10:30 | Cell-free DNA and its applications | E. Sistermans |
| 10:30-11:00 | Coffee break | |
| 11:00-11:45 | RNASequencing for Mendelian disease | N. Whiffin |
| 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 Excursion
Thursday, May 9, 2024 - Morning Lectures:
New Technologies and Big Data
| 09:00-09:45 | Patterns of rare variation contributing to disease | K. Samocha |
| 09:45-10:30 | Genetic Imprinting | K. Temple |
| 10:30-11:00 | Coffee break | |
| 11:00-11:45 | Complex disorders and classical gene identification | M. Nothnagel |
| 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 | |
| GWAS analysis for beginners | M. Nothnagel | |
| Genetic Imprinting | K. Temple | |
| Population genomic screening | D. Donnai & A. Lucassen | |
| 15:30-16:00 | Coffee Break | |
| Session II 16:00 – 17:30 | ||
| Interpretation of rare variants | K. Samocha | |
| GWAS analysis for beginners | M. Nothnagel | |
| Functional data in variant interpretation | L. Starita | |
| Population genomic screening | D. Donnai & A. Lucassen | |
| 17:30 | Poster viewing session with aperitif (session II) |
Social dinner and farewell party
Friday, May 10, 2024 - Morning Lectures:
Highlights of the 2024 course
| 09:00-10:00 | McKusick-Romeo Lecture | S. Nik-Zainal |
| 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, 2024. Please not that you have to register until May 5 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 30, 2024 at 23.59hrs CEST.
Registration (on-site participation)
Registration for live participation
- EUR 950,-
- All participants are STRONGLY encouraged to present a poster. All abstracts will be accepted. Deadline for sending Abstracts or posters: April 17, 2024.
- 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, 2024: 50% refund
as of April 2, 2024: 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 2024, 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