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"Genomics in Precision Health"



Knowledge and skills for multi-disciplinary genomic healthcare
Variant Interpretation
All About Tools (OMIM, ClinGen, GA4GH, Biobank tools, Phenopackets)
Pangenomes Workshop

Precision Health
Microbiome and Metagenomics
Gene Therapy
Non-coding RNA genes
Genetics of Complex Diseases
Genetics of Infectious Diseases
Computational Biology & AI
Rare Diseases
Cancer Genomics
Single-Cell Genomics
Transgenerational Inheritance / Epigenetics
Reproductive Genetics
Pangenomes and Genomic Diversity
Spatial Genomics
Ethical, Legal and Social Implications)


Nominate your colleagues now for the awards!

Report on the 7th Variant Effect Prediction Training Course (VEPTC)

2nd-4th October 2023, Barcelona

Prepared by: Andreas Laner, on behalf of the Organising Committee

On behalf of the Organising Committee, I am pleased to report on the 7th Variant Effect Prediction Training Course (VEPTC) 2023. This year's event marked a significant milestone as we returned to conducting it in person in the vibrant city of Barcelona from the 2nd to the 4th of October. In response to the enduring influence of the Covid-19 pandemic, we continued to offer a virtual component, ensuring a hybrid experience for our participants who were unable to attend in person.

First and foremost, I want to extend my sincere gratitude to the entire VEPTC team, whose unwavering dedication and hard work made this course possible. Special recognition is due to the local team led by Leslie Matalonga and Steve Laurie from CNAG - Barcelona, as well as Rania Horaitis, who, as always, did an excellent job in organising this event.

As in previous VEPTCs, our participants represented a diverse range of professionals, including biologists, clinicians, and counsellors engaged in DNA laboratory work, variant interpretation, and DNA sequencing data analysis. The course maintained its unique blend of theoretical and practical elements, with expert speakers providing insights, and practical sessions and workshops offering hands-on experience with genome informatics tools, genome browsers, HPO-based variant prioritisation tools, and the practical application of variant interpretation using the ACMG-AMP framework. These workshops were expertly guided by specialists in the field and were available in both beginner and advanced versions.

Compared to the previous year, we observed an increase in participation, with a total of 254 attendees, of which 106 joined us in Barcelona. We are thrilled to note that the course's appeal has transcended borders, with participants hailing from 43 different countries. Our success in attracting a diverse range of professionals, including molecular biologists, physicians, data analysts, bioinformaticians, and research scientists, underscores the collaborative nature of our field. Our strength lies in the interdisciplinary exchange of knowledge and mutual understanding of each other's challenges.

The feedback we received from our participants included a clear desire for more comprehensive workshops, catering to both beginners and advanced learners. Additionally, there was an expressed need to delve deeper into the ACMG classification system and enhance practical exercises. We will take these suggestions into account as we plan for the next course.

Looking ahead, planning for the next VEPTC in 2024 is already underway. We will soon announce the dates and venue. Stay tuned for more updates.

Once again, on behalf of the entire VEPTC team, I extend our heartfelt appreciation to all who made this event a success.


Andreas Laner

On behalf of the entire VEPTC team

UTS Genetic Counselling Skills Bootcamp

Prepare for the integration of genomics into healthcare

Genetics and genomics – words we hear more and more frequently. Thanks to advances in science, each day we understand more about our genetic makeup and the way this knowledge contributes to healthcare. These advancements mean that most healthcare professionals will talk with patients about genetics and genomics in the coming years.

Are you a current or aspiring healthcare professional wanting to prepare for the integration of genetics and genomics into healthcare?

Join us at UTS’s first-ever Genetic Counselling Bootcamp to hear from genetic counsellors and learn how to collect and document a family history. We’ll provide you with access to resources you can refer to before and after the Bootcamp.

At the Bootcamp, you’ll:

  • Learn why genetic counselling communication skills are crucial in the genomic era
  • Learn to take a family history – with a how-to workshop where you get to practice your skills
  • Reflect on the importance of working with families as well as individuals
  • Hear from experienced genetic counsellors
  • Meet and speak with genetic counsellors
  • Leave with resources that will extend your learning

The Bootcamp will be held online and is open to all – including those working in human genetics and healthcare, and those curious to find out more. No experience in health, science or genetics is required. 

This Bootcamp is free for attendees thanks to our sponsor, Trakgene.

HUGO Executive Board Member Nomination

HUGO is looking for new Executive Board members who will join from March 2024 for a two-year term. 
Please nominate yourself/your colleagues for the position.
Download the form

HUGO Clinical Genomics & Genomic Medicine
Educational Sub-committee Survey

Dear Colleagues

The Human Genome Organization (HUGO) Clinical Genetics and Genomics Education sub-committee is seeking input on use of genetic and genomic data and resources from practicing physicians.  The survey is intended for a wide range of physicians; however, if you are a clinical geneticist or medical geneticist, this survey is not intended for you.The survey data will be used to develop clinical and general education resources for healthcare providers across the globe. Data collected will be aggregated in a de-identified fashion.  Please assist HUGO’s education effort by taking the survey at the QR Code or link below.
Importantly, please also share the survey across your professional network of physicians or appropriate professional societies

The survey can be completed at this link, hosted by The Jackson Laboratory:  On behalf of the Human Genome Organization, thank you.

HUGO is open for future biddings!

The Human Genome Organization (HUGO) is open for biddings from cities for future HGMs!
If you would like to host the HGM, please refer to the Request to Bid Document. 


HUGO 15th International Symposium on Variants in the Genome

13 - 15 May 2024
Porto, Portugal 

We’re excited to announce that registration and abstract submission is open for the 15th International Symposium on Variants in the Genome: detection, sequencing, interpretation (isv24) to be held 13th to 15th May 2024 in Porto, Portugal! 

The symposium focuses on cutting-edge developments for scanning, sequencing, databasing, and bioinformatics analysis of variants in DNA, RNA, and protein. With technology setting the pace, understanding how variants effect the health of an individual has become crucial and is quickly changing the way genomic data is interpreted. This symposium will also give special emphasis to the capabilities and methods for functional testing and classification of genomic variants related to disease.

A stellar line-up of keynote speakers and leading researchers from around the world together with speakers invited from submitted abstracts after peer review will present their research. The meeting will also include interactive workshops on topics related to clinical interpretation of variants and data collection. The Symposium provides an excellent platform, motivating participants to share knowledge and network with international experts in all areas of human genetics.  The event will feature a series of keynote lectures, oral presentations, and poster sessions, covering a wide range of topics.
As a participant, you will have the opportunity to network with other professionals in the field, share your research findings, and learn about the latest tools and techniques for analysing genomic data. This symposium is also an excellent opportunity for students and early-career researchers to showcase their work and receive feedback from experts in the field.

We invite you to submit your abstracts and encourage you to travel to the beautiful UNESCO World Heritage city of Porto, Portugal to learn and participate at this dynamic meeting.

Please visit our symposium website for more information and to register for the event. We look forward to welcoming you to Porto in May 2024 and sharing in the exchange of ideas and research in genomics.
The ISV24 Team



Super Earlybird:   1st 20 to register by 31st Dec. 2023

Abstracts Close:   10th Feb. 2024

Earlybird Ends:     3 Mar 2024

Symposium:         13 - 15 May 2024


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