The European Society
of Human Genetics

Clinical Genomics and NGS

Clinical Genomics and NGS

Dear participants,

We are very sorry to announce that due to the ongoing technical issues and network problems and in order to avoid further disappointment, we have to discontinue the live course and will make available the talks as on-demand webcasts as soon as possible on the platform.

You will receive regular email updates with news on available talks as they come in. You will also be refunded with the full course fee.
The organisers will contact you accordingly in this matter.

With kind regards,

The Course Directors

- Han Brunner (Nijmegen and Maastricht, the Netherlands)
- Christian Gilissen (Nijmegen, the Netherlands)
- Alexander Hoischen (Nijmegen, the Netherlands)
- Tommaso Pippucci (Bologna, Italy)
- Brunhilde Wirth (Cologne, Germany)

 

Please click below for direct access to the respective sections:

Programme

 

Friday, May 7, 2021
Medical Genetics concepts and principles

TimeTitleSpeaker & Moderator
Moderators: H. Brunner & T. Pippucci
09.00-09.15Introduction to the virtual courseH. Brunner
09.15–10.15Phenotype to genotypeDian Donnai & H. Brunner
10.15–11.00Complex disorders and classical gene identificationA. Read
11.00–11.15Coffee break
11.15-12.00Cytogenetics and arraysE. Klopocki
12.00-12.45GWAS and follow-upK. Ludwig
12.45-13.30Lunch Break

NGS basics and applications in clinical genetics

TimeTitleSpeaker & Moderator
Moderators: T. Pippucci & B. Wirth
13.30–14.15Basics of next generation sequencing technology

A. Hoischen

14.15-15.00Basics of NGS bioinformaticsC. Gilissen
15.00-15.15Coffee break
15.15–16.00NGS in patient careL. Snijders Blok
16.00–16.45The new era of clincial geneticsK. Boycott
16.45–17.15Coffee break
17.15–18.00Reflection of part 1 & 2
18.00–19.00*Breakout sessions: fireside chat with faculty

*Fireside Chats

Room 1* Long Read Sequencing
* Career Advice
A. Hoischen, E. Eichler
Room 2* Career advice to females scientists
* Beyond the exome
K. Ludwig, D. Donnai, K. Boycott
Room 3* How to start your own group
* How to handle big data
C. Gilissen. M. Spielmann, K. Samocha
Room 4* How to sell your science
* Therapy of rare disease
B. Wirth, J. Burn
Room 5* Paper writing advise
* Translational science
H. Brunner, E. Klopocki
Room 6* How can diagnostics and research benefit from each other
* Prenatal genomics
J. Weiss, T. Pippucci
Room 7* Collaboration advise basic and clinical scientists
* Next generation phenotyping
L. Snijders Blok, A. Reymond
Room 8* How to become a great educator
* Missing heritability
K. Temple, A. Read

 

WEEKEND OFF

Monday, May 10, 2021
Beyond the exome, rare disease therapy

TimeTitleSpeaker & Moderator
13.00–13.15Introduction day 3B. Wirth & C. Gilissen
13.15–14.00Boundaries between rare and common diseaseA. Reymond
14.00–14.45Imprinting - perspective from a clinicianK. Temple
14.45–15.15Coffee break
15.15–16.00SMA: From gene and modifier to therapyB. Wirth
16.00–16.45Therapy and cancerJ. Burn
16.45–17.15Coffee break
17.15–18.00Reflection of day 3
18.00–19.00Evening lecture: Long read genomesE. Eichler

Tuesday, May 11, 2021
New technologies and big data

TimeTitleSpeaker & Moderator
13.00–13.15Introduction day 4C. Gilissen & A. Hoischen
13.15–14.00Patterns of rare variation contributing to diseaseK. Samocha
14.00–14.45Non-coding mutations/long-range effectsM. Spielmann
14.45–15.15Coffee break
15.15–16.00Non-invasive prenatal testingJ. Weiss
16.00–16.45Global Views of Mammalian DevelopmentJ. Shendure
16.45–17.15Coffee break
17.15–18.00Reflection of day 4 
18.00–19.00

Romeo-McKuscik lecture
Organoids to model human disease

H. Clevers

Contact

Congress Office:
WMA GmbH
Ms. Catherine Tomek
Alser Strasse 4
1090 Vienna, Austria
T: +43 1 405 13 83 18
F: +43 1 405 13 83 918
E: bertinoro-course(at)eshg.org