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GV Newsletter - July 2022


We all had a wonderful time at HGM2022! We hope you did as well and made friends and new collaborations!

Here are the photos for all of you to see">
Looking forward to the next HUGO Meeting!

Karen, Eran and Charles
The Conference Secretariat

P. O. Box 9352
Tel-Aviv 6109202, Israel
Tel: +972-3-6384444
Fax: +972-3-6384455

 view the program
We’re excited to let you know the program for veptc 2022 is now available and registration is open!  The 6th annual Variant Effect Prediction Training Course - veptc 2022  will be held 20 to 22 Sept 2022 in Nicosia, Cyprus!   

This year for the first time we will offer a hybrid course: an in-person and a virtual option. In-person atte ndance is encouraged for the most interactive workshop experience.

In-person attendees have the option to select a Basic or Advanced workshop for "Ensembl Genome Browser", "UCSC Genome Browser" and "ACMG variant grading (inc. cancer)".

Visit the website to learn more and to register (in-person places are limited), earlybird ends 31st July:">

secure your place & find out more
New HVNC members
HUGO has completed the nomination process for new members of the HUGO “HGVS Variant Nomenclature Committee”.
After a call in January, HUGO received nine applications for membership of the “HGVS Variant Nomenclature Committee” (HVNC). The first step of the process was a meeting of the current HVNC members who evaluated the applications received. Based on the application letter, the CV, the applicants' expertise, the interest fields represented, and the expertise of the sitting committee members, the applications were rated. The HVNC selected four and proposed to the HUGO board to appoint these as new members for a four-year term (2022-2026). On May 23, the HUGO board met and accepted the HVNC proposal and nominated Marina DiStefano (USA), Rachel Taylor (UK), Jeroen Laros (Netherlands) and Alex Wagner (USA) as new HVNC members.
A new call for HVNC members will be released early 2024. Interested? Please make a note in your agenda to make sure you do not forget to apply. The current committee esp. lacks members representing Asia, Africa and South-America.
With the new nominations the current HVNC members are: Raymond Dalgleish (UK), Reece Hart (USA), Peter Causey Freeman (UK), Terence Murphy (USA), Ros Hastings (UK), Marina DiStefano (USA), Rachel Taylor (UK), Jeroen Laros (Netherlands), Alex Wagner (USA) and Johan den Dunnen (Netherlands, chair).
THANK YOU leaving HVNC members
With the nomination of four new members of the HUGO “HGVS Variant Nomenclature Committee”, we also have some leaving members.
First, we need to thank Anne-Francoise Roux (France), who joined the committee in 2014. Over the many years she served in the committee, Anne-Francoise represented the diagnostic testing laboratories, paying special attention to the practical implications of the HGVS nomenclature recommendations. Also, a thank you to Peter Taschner (Netherlands). Peter was a member of the committee from day 1, representing the gene variant databases (formerly known as LSDBs), with a special focus on the practicalities of the HGVS nomenclature for storing and retrieving variants in genomic databases. Besides being an active curator for several LOVD-powered gene variant databases, Peter was also instrumental in the development of the first on-line tool to check and generate HGVS variant descriptions, the Mutalyzer tool set (
Anne-Francoise and Peter, on behalf of HUGO and the genetics community, thank you very much for dedicating part of your precious spare time to the important topic of HGVS nomenclature!! 

As small token of appreciation HUGO offers the leaving members a 50% discount on a 2-year membership to HUGO.

 to our HUGO Pathogenicity committee co-chair, Melissa Cline, who has been featured in a GA4GH article; a beautiful piece on some of the work she has recently published!">How a bot beamed from California to Japan may prevent cancer patients from losing their breasts unnecessarily
Too many women are getting unnecessary mastectomies and other invasive procedures because of a knowledge gap in cancer gene mutations. A new study offers a path to closing the gap, thanks to the data-sharing innovation of federated analysis.

 to our HUGO Education committee co-chair, Dhavendra Kumar, for the publication of the new book 'Genomic Medicine - Skills and Competencies'. This book is relevant in keeping with the HUGO Genomic Education mission/ objectives. It is part of the large series on 'Genomic and Precision Medicine in Clinical Practice'.
Genomic Variant Analysis and Clinical Interpretation
Virtual course
This is an ongoing course is designed to provide in-depth understanding of concepts as well as hands-on exposure to genomic variant analysis and clinical interpretation and would have online lectures during weekends (Saturday and Sunday) as well as assignments for weekdays (Monday - Friday).
Full details:"> 
"The Future of Genetics in Angola"
30 June – 01 July 2022
College of Medicine - Universidade Agostinho Neto (Hybrid)
The Genetics Department of the Faculty of Medicine of the University Agostinho Neto (AG_FMUAN) is proud to announce its II International Genetics Symposium under the slogan "The Future of Genetics in Angola" on Thursday 30th June and Friday 1st July 2022, in a hybrid format (in-person and online). We expect to have a successful event, with around 200 expert guests and speakers, both national and international. The event is part of the scientific agenda of the International Center for Genetic Engineering and Biotechnology (ICGBE), of which Angola is a member state.
Full details:">
Genomics for Clinicians 
1st week, July 2022
Genomics for Clinicians is an online introductory course for clinicians on genomics and genomic applications in clinical medicine. The course is designed for clinicians, genetic counsellors, nurses and nursing students to provide an overview of genomics and applications in clinical settings.
The course will commence in July 1st week
Online course with 5 sessions. The sessions can be taken online, at your convenience.
Full details:">
Board of Genetic Counselling India - 7th Annual International Conference
01-03 July, 2022
Ahmedabad, India (Hybrid)

This conference aims to promote education among genetic counsellors, doctors, health care providers, and students about current topics in genetics, genomics, and genetic counselling. The conference is expected to have 20 International speakers who are experts in genomic medicine/ genetic counselling and over 500 physical and 3000 online delegates from across the globe.
The science of genetics is influencing medicine at a rapid pace. The chief intent of the conference is to connect the practitioners from different specialties with the counsellors, diagnostic companies and researchers using latest advances and experiences shared by renowned speakers.
Genetic counselling can help in understanding the genetic predisposition, determine the right genetic test and help in early and accurate diagnosis. A genetic test can help establish a clinical diagnosis, identify the likely causative mutation, understand the disease progression, opt for rehabilitation (wherever possible), guide targeted therapy (if available) and help tailor patient care thus enabling a better quality of life. This further creates an opportunity for families to make informed healthcare and reproductive decisions.
Full details:
Bioinformatics Open Source Conference (BOSC)
13-14 July 2022
Wisconsin, USA (Hybrid)


BOSC 2022 will take place July 13-14, 2022, as part of ISMB 2022. The meeting will be held both in person in Madison, Wisconsin, USA (following safety protocols), and simultaneously online.

This year, BOSC and Bio-Ontologies will join forces for part of a day! The joint session will include talks chosen from abstracts plus keynote speaker Melissa Haendel.

Keynote speaker Jason Williams‘s talk will be a joint BOSC/Education COSI keynote.

The BOSC 2022 program will also include a panel about Building and Sustaining Inclusive Open Science Communities.

Full details: 
Human and Mammalian Genetics and Genomics: The 63rd McKusick Short Course
18-28 July, 2022
Bar Harbor, US (Hybrid)

Offered annually for over 60 years, the ‘Short Course’ is a 2-week program consisting of an immersive set of lectures, workshops, tutorials and demonstrations to understand the breadth of modern human genetics. The faculty includes leaders in contemporary genetics and genomics from Johns Hopkins, The Jackson Laboratory and other institutions around the world. The course covers basic science, clinical and translational aspects of human genetics and genomics, and runs the gamut from gene and variant discovery in Mendelian and complex disease, genome biology, the molecular basis of genetic disease, the use of animal models of human disease to understand pathophysiology, as well as genetic disease treatment and therapy. Workshops and lectures also cover bioinformatics, population genetics, genome manipulation, mutagenesis and phenotyping. 
This course includes daily lectures in the mornings and evenings as well as afternoon mini-symposia, workshops, tutorials, demonstrations and a poster session. There is special emphasis on student-faculty interaction. The faculty is diverse in terms of disciplines and the students in terms of stage of career and fields of concentration. This diversity makes for an enriching experience for all. Although the course schedule is quite full, there is time set aside to enjoy the natural beauty of Mt. Desert Island and Acadia National Park.
Full details:

13th Annual Meeting of the Cancer Genomics Consortium (CGC) 
31 July - 3 Aug, 2022
St Louise, Missouri , US

The CGC Annual Meeting is a unique gathering aimed at bringing the clinical genomics community together to create an environment of collaboration, education and networking. With the continuing and evolving partnerships between cytogeneticists molecular geneticists, pathologists, oncologists, and bioinformaticians, CGC is committed to playing an essential role in providing guidance on the best practice of genomic testing.

The meeting will include presentations from leading clinical genomics professionals, open discussions of best practices and guidelines, educational workshops, and ample opportunity to network with industry partners.

Full details:

Viral Genomics and Bioinformatics (Asia)
22 – 26 Aug
Hands-on training in viral genome sequence analysis and interpretation of large-scale sequencing genomics data with a spotlight on SARS-CoV-2. 
The course is free to attend and is aimed at scientists based in Asia who are engaged in relevant research or clinical activities, have access to viral genome sequence data and interest in disseminating knowledge to small groups. The programme will benefit research scientists including PhD students, postdoctoral researchers; and healthcare professionals including clinical laboratory scientists.

Full details:

Precision Oncology Forum
8-9 September, 2022
New Jersey, USA

The Precision Oncology Forum will challenge the way we look at precision oncology, discuss the barriers to widespread adoption and how we overcome such hurdles. From multi-omics technologies to the patient of the future, community oncology to reimbursement, we bring together all the stakeholders in one room.
With a limited attendance and an interactive format made up of panel and roundtable sessions, this forum is the perfect opportunity to network closely with your peers, engage in free-flowing debates and ultimately collaborate with senior experts from healthcare, technology, patient groups, research, payers and Government sectors.
Full details:


InSiGHT 2022
9th Biennial Conference of the International Society for Gastrointestinal Hereditary Tumours 
14-17 September 2022
Jersey City, NJ, USA

The 9th Biennial Conference of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) will take place from 14-17 September 2022 in Jersey City, NJ, USA.

InSiGHT 2022 welcomes a faculty of international experts highlighting cutting-edge research and innovations in the field. The conference will foster the exchange of ideas and sharing of knowledge, truly on a global scale.

There is still time to register and join your colleagues at InSiGHT 2022 this September! For more information, please visit the conference website below.
We look forward to welcoming you to InSiGHT 2022!

Full details: GO TO InSiGHT 2022 WEBSITE
SAVE THE DATE - GA4GH 10th Plenary Meeting
22-23 September 2022

The Global Alliance for Genomics And Health (GA4GH) 10th Plenary Meeting will be held from 22 to 23 September 2022 at the CosmoCaixa in Barcelona, Spain.

The 10th Plenary will bring together organizations and stakeholders from the genomics and health community for two days of keynotes, talks, and workshops that will focus on genomic and clinical data sharing issues that pervade a diverse cross-section of industries, disciplines, and communities.

Attendees will have the opportunity to learn about GA4GH’s technical standards and policy frameworks, which aim to break down the many barriers to data sharing and advance genomic research.

Full details of registration with be announced soon

Dear members, friends, affiliates and sponsors,

We would like to remind you to save the date for the upcoming 6th annual EHTG meeting from Sept. 29 – Oct. 1st, 2022 in beautiful Palma de Mallorca.

Please take the abstract submission date (26 June 2022) into account and submit your abstract asap via our website

As always our main focus will be to discuss the newest hot topics on all areas of research and clinical management for patients with hereditary cancer disposition syndromes. Days 1 and 3 will be hosted as F2F meetings with the option of virtual attendance. This year, we will showcase the best abstracts in the plenary session – this is a real opportunity! The accepted submissions for the dedicated Working Groups will receive a lot of space with the experts in the room and enough time for thorough discussion. 

Join us in the debates that will be on controversial and provocative topics! Last but not least we will elaborate on the recent amazing prospective study published in NEJM demonstrating 100% clinical response in MMRd rectal cancer cured with check point inhibition (Dostarlimab) in a small phase II study with short follow-up. This will be discussed by renowned speakers in an ESCP-EHTG Hot Topic plenary panel session. Importantly, this year will offer an open platform to patient societies and networking. We wish to second international collaboration in this field and hope that many patients and patient societies will get in touch and join us in person or virtually in Palma. 

Last but not least we also invite industry relevant to diagnostic and therapeutic aspects of hereditary cancer syndromes to host a lunch symposium on hot topics.

Please visit our website for more information and contact Gabriele Sponholz for all organizational issues and any of the board members if you have any suggestions. 

Kind regards 
Your EHTG Board

Gabriele Sponholz
EHTG Secretary
Phone: +49-160-8459502


Call For Abstracts
Deadline for submission: 31 August 2022

The International Scientific Programme Committee invites you to submit an abstract for an oral or poster presentation for the 14th International Congress of Human Genetics.

1. Mendelian Phenotypes
2. Complex Traits & Polygenic Disorders
3. Evolution & Population Genetics
4. Precision Medicine, Pharmacogenomics & Genetic Therapies
5. Prenatal, Perinatal, Reproductive & Developmental Genetics
6. Molecular Effects of Genetic Variation
7. Epigenetics & Gene Regulation
8. Cancer Genetics
9. Statistical Genetics & Genetic Epidemiology
10. Bioinformatics & Computational Approaches
11. Molecular Phenotyping and Omics Technologies
12. Molecular & Cytogenetic Diagnostics
13. Genetic Counselling, Education and Health Services Research
14. Legal Issues & Ethics in Genetics

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