ESHG pre-meeting courses

With the upcoming 2024 meeting, the ESHG plans to start with a series of so-called “pre-meeting courses”. Education has a prominent place at the annual ESHG meetings. The program of the annual meeting has specific educational sessions and workshops, which give participants the opportunity to learn about the latest developments in the field of human genetics. However, this education tends to focus on the high end of developments, there seem to be less opportunities for participants seeking more basic education and training. The pre-meeting courses plan to fill this gap, i.e. offer on-site education and training in the more basic subjects in human genetics.

The ESHG Education Committee would like to know which subjects you would like to get covered during the pre-meeting courses. Please send wishes, suggestions etc. to office@eshg.org

Introductory lectures covering the basis of the subjects, will be followed by tasks where the participants will directly apply what was learned by trying to solve practical examples.

For 2024 the following courses have been planned:

Workshop on History of Human Genetics 

Thursday May 30 and Friday May 31 at the CityCube Berlin, Germany

This will be the 8th International Workshop since 2003, where a broad theme of genetics, medicine and history. It was initiated by Prof. Dr. Sir Peter Harper (1939-2021), since 2012 Dr. Heike Petermann is the organizer of the workshops. (See History of Human Genetics, Berlin: Springer 2017, 7-38)

The link-up to the ESHG conference enables human geneticists as well as historians and natural scientists from Europe and overseas to participate and discuss with each other.

As Berlin was before 1945 the center of research in “Erblichkeitslehre” (human heredity), this will be reflected as well as the history in human genetics after 1945.

The “History of Eugenics” began since the term “Eugenics” has been established by the polymath Francis Galton (1882-1911). “Eugenics is the science, which deals with all influences that improve the inborn qualities of race […]” (1904). Eugenics is related to Berlin among others due to activities of the Kaiser-Wilhelm-Institute (KWI) for Anthropology, Human Heredity and Eugenics (1927-1945). One of the important actors there was Otmar von Verschuer (1896-1969), since 1942 KWI-Director and after 1945 founder of the Institute of Human Genetics in Münster. He played an important role for development of Human Genetics in Germany and its international relations. The focus of this symposium will be the time before and after 1945, including a wide range of topics of worldwide Eugenics.

Evolution of Techniques in Human Genetics” workshop part will focus on introduction of cytogenetics, molecular cytogenetics, molecular karyotyping and next generation sequencing (NGS), and their consequences for Human Genetics as well as their influence on diagnostics and therapy and genetic counselling.

Women in the history of Human Genetics” will reflect on the role of female scientists in human genetics like Rosalind Franklin, Esther Zimmer Lederberg or Lore Zech. According to the UNESCO Institute of Statistics fewer than 30% of World’s researcher are women. The focus will be on the untold stories of women in Human Genetics and also the professional recognition.

All topics also include ethical questions.

Contributions on other historical aspects of human and medical genetics are also welcome.

The course will be organized by Dr. Heike Petermann M.A., Institute for Ethics, History and Theory of Medicine, Von-Esmarch-Str. 62, 48149 Münster.

The Scientific Committee are Prof. apl. Dr. Thomas Liehr (Jena), Dr. Susanne Doetz (Berlin), Dr. Carla van El (Utrecht) and Dr. Heike Petermann (Münster).

Berlin Museum of Medical History

If possible, we plan a visit to the Museum on Thursday, May 30, 2024. More information will follow.

Evening event

On Friday, after the workshop, there is a walk at 6 p.m. through University in Berlin-Dahlem, where for example the Kaiser-Wilhem-Institutes were located.

Afterwards (about 7:30 p.m.) there is a joint dinner planned in the Harnack House, which is a reflection of contemporary German history in the 20th century. It was erected in 1929 as a guest house for the Kaiser Wilhelm Society, the precursor to the Max Planck Society, and became a meeting place for people working on the surrounding campus. Beyond that, however, it also became one of Berlin’s key venues for social gatherings. (See https://www.harnackhaus-berlin.mpg.de/geschichte)

This dinner must be booked separately. Please note that the fee EXCLUSIVELY covers the meal. Drinks will be charged separately and individually on site.

Call for Abstracts – Due February 28, 2024 extended

Contributions on other historical aspects of human and medical genetics are also welcome.

Abstracts:
The maximum length of abstracts is 250 words. The final deadline for submissions is Febru-
ary 28, 2024, 24.00 hrs. CET. Submissions after the deadline cannot be accepted.

Course fees:

Regular: EUR 100
Trainees: EUR 50

Registration will be open until May 15, 2024

ACMG-AMP classification system

Friday May 31 in Berlin, Germany

In this Workshop participants will learn how to use the ACMG-AMP classification system (Richards et al, 2015) in daily practice. The workshop will be a mixture of lectures, practical workshops (Basic and Advanced) and an interactive part where participants may bring their own “difficult to classify” variants or cases which we will try to solve together.

One well known challenge in using the ACMG/AMP codes is the fact that two lab scientists looking at the same data often come up with contradictory results. These differences are frequently due to the different weighting of the codes. To address this problem, the sequence variant interpretation working group (SVI) publishes recommendations for the use and/ or weighting of the codes. We will present and discuss some of these SVI recommendations during the course. In addition, we present the UCSC recommended track set, a resource for quickly and easily obtaining the data needed to apply the ACMG codes.

Notes: The participants are encouraged to bring their own variants of interest

Number of participants: 50 people maximum

Venue: tba

The course will be presented by Andreas Laner and Anna Benet-Pages.

Andreas Laner is a molecular biologist by training and is leading the HUGO Education Sub-Committee “Variant Interpretation and Genome Databases” and chairs the Variant Effect Prediction Training Course (VEPTC) organized annually by the Human Genome Organization (HUGO). He is also a member of ClinGen´s InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel (HCCP VCEP) and oversees the variant interpretation, curation and data sharing process at the Medical Genetics Center Munich.

Anna Benet-Pagès is a senior specialist in the field of genomics and clinical diagnostics with many years of experience in interdisciplinary management of laboratory technology, bioinformatics, and scientific development in academic and private practice environments. She currently is the Head of Bioinformatics at the Medical Genetics Center Munich and Research Coordinator for GHGA at Helmholtz Munich. Anna also serves as a Research Collaborator at UCSC Genome Browser and contributes as Instructor at the VEPTC.

Friday May 31, 2024

Time Programme Item
12.00 – 13.00 Lecture: The ACMG-AMP classification system for SNV´s
13.00 – 13.45 UCSC Recommended Track set for Variant Interpretation
13.45 – 14.00 Coffee Break
14.00 – 15.00 Workshop Part 1: Training on individual codes (basic)
15.00 – 15.15 Coffee Break
15.15 – 16.15 Workshop Part 2: Solving cases (advanced)
16.15 – 17.00 Interactive discussion: Bring you own variants/ cases and Q/A
17.00 End of course
Course fees:

Regular: EUR 100

Trainees: EUR 50

Registration will be open until May 15, 2024

Clinical NGS Data Interpretation Course

Thursday May 30 and Friday May 31 at the CityCube Berlin, Germany

Considerations:

  • Focus on the clinical interpretation of variants, only basics of sequencing technologies, not the analysis, not ELSI issues
  • Practical course with an emphasis on people working with real data and cases
  • Focus on WES and WGS data. This is most used, has most cases and data, and is in important ways similar to WGS

Learning goals:

  • How to interpret SNVs from WES data
  • How to interpret CNVs from WES data
  • What practical tools/databases for WES interpretation are freely available
  • How the interpretation of WGS data is different from WES data

Number of participants: 60 people maximum

Course instructors:

  • Christian Gilissen, bioinformatician, expert in WES/WGS analysis
  • Rolph Pfundt, clinical molecular geneticist, expert in cytogenetics of WES/WGS
  • Erik-Jan Kamsteeg, clinical molecular geneticist, expert in molecular genetics of WES/WGS
  • Anne-Sophie Denommé-Pichon: clinical geneticist, expert in WES/WGS

Thursday May 30, 2024

Time Programme Item
8.30 – 9.00 Registration
9.00 – 9.45 Lecture: General background on (WES) sequencing and bioinformatics (C. Gilissen)
9.45 – 10.30 Lecture: Exome data interpretation of SNVs (E. Kamsteeg)
10.30 – 10.45 Coffee break
10.45 – 12.30 Workshop: exome interpretation of SNVs with cases (E. Kamsteeg, R. Pfundt)
12.30 – 13.30 Lunch
13.30 – 14.00 Lecture: technical challenges in SNV detection and interpretation (C. Gilissen)
14.00 – 14.45 Lecture: Exome data interpretation of CNVs (R. Pfundt)
14.45 – 15.00 Coffee break
15.00 – 16.30 Workshop: exome interpretation CNVs with cases (E. Kamsteeg, R. Pfundt)
16.30 – 17.00 Q&A, wrap up of day 1 (All)

Friday May 31, 2024

Time Programme Item
9.00 – 10.00 Variants of uncertain significance (A. Denommé-Pichon)
10.00 – 10.45 Lecture: WGS interpretation (E. Pfundt)
10.45 – 11.00 Coffee break
11.00 – 12.30 Workshop: WGS interpretation (E. Kamsteeg, R. Pfundt)
12.30 – 13.30 Lunch
13.30 – 14.15 Interactive lecture: incidental findings (A. Denommé-Pichon)
14.15 – 14.45 Lecture: Complex cases (E. Kamsteeg)
14.45 – 15.00 Coffee break
15.00 – 16.30 Workshop: WES/WGS data interpretation of complex cases (E. Kamsteeg, R. Pfundt)
16.30 – 17.00 Q&A, wrap up of the course (All)
Course fees:

Regular: EUR 200

Trainees: EUR 100

Registration will be open until May 15, 2024