The HGVS Variant Nomenclature Committee (HVNC), one of HUGO's Nomenclature Standards Committees, is looking for new members. The main activity of the committee is the "HGVS nomenclature", the standard for the unambiguous description of all sequence variants at the DNA, RNA and protein level (see varnomen.HGVS.org). The committee's Terms of Reference can be found on the HUGO website (www.hugo-international.org/standards/), as well as the HVNC's annual activity reports which were also published in the HUGO newsletter.
Interested in the work of the HVNC? Willing to spend some spare time and join the committee? Please apply to become a member. Following our Terms of Reference, HVNC members should together represent interested communities, including gene/disease specific database curators, central repositories, clinical geneticists, commercial diagnostic laboratories, bioinformaticians, scientific journals, etc. Applications should include a motivation letter detailing relevant expertise and interests in HGVS nomenclature (max. 1-page A4) and a CV.
Applications will be evaluated by the HVNC, and new members proposed to the HUGO board. New members will be appointed by the HUGO board. The term of membership of the HVNC will be for 4 years. Each member should attend a minimum of 50% of HVNC meetings over an 18-month period, otherwise they will forfeit their position.
HUGO 15th International Symposium on Variants in the Genome
The 3rd Symposium on Genomic & Precision Medicine, 20th June 2024
Willoughby Lecture Theatre, Charterhouse Campus, Queen Mary University of London
“Genomics and Multi-OMICS for Precision Healthcare”
You are all invited to participate in the third biennial symposium on genomic precision medicine and healthcare. The symposium aims to discuss and explore importance of emerging novel multi-OMICS approaches for in delivering the precision medicine and healthcare. Renowned global Faculty will deliver the excellent programme including the Professor Sir David Weatherall Oration (2024). The conference is held in person hosted by the William Harvey Research Institute, Queen Mary University of London, England. UK.
Programme
0930 Welcome / Registration Tea / Coffee 1000 Introduction Prof. Dhavendra Kumar, WHRI, QMUL, UK Medical Director, Genomic Medicine Foundation UK Chair: Programme & Organising Committee 1015 Session I: Genomic and OMIC technologies Chair: Professor Patricia Munroe, WHRI, QMUL, UK • ‘Genomics and Multi-OMICS testing in NHS Genomic Laboratory’ Prof. Mike Hubank, NHSE North London Genomic Laboratory, UK • Pathogen genomics in multi-OMICS healthcare’ Prof. Tom Connor, Pathogen Genomics Unit, NHS Wales, Cardiff • ‘The importance of artificial intelligence/machine learning in the multi-OMICS medicine’ Dr. James Timmons, WHRI, QMUL, London, UK 1130 Tea / Coffee Break
1150 Session II: Scope of the Multi-OMIC Medicine Chair: Prof. Panos Deloukas, Director, WHRI, QMUL, UK • ‘Elements and Challenges for the Multi-OMICS Medicine Prof. Matt Brown, Chief Scientist- Genomics England, UK • ‘Multi-OMIC approaches for drug target discovery and repurposing’ Prof. Maik Pietzner, Precision Healthcare Unit, QMUL, London, UK • ‘Pharmacogenomics in the Multi-OMICS practice of Medicine’ Prof. Sir Munir Pirmohamed, Univ. of Liverpool, England, UK 1300 Lunch
1345 Session III: Organisation and Development of Multi-OMICS Medicine Chair: Prof. Dame Sue Hill, Chief Advisor, NHSE Genomics Service • ‘Delivering the multi-OMICS Medicine in clinical practice’ Prof. Sir Mark Caulfield, Vice Principal (Research), QMUL • ‘Education and training for Genomic/OMIC healthcare’ Prof. Dhavendra Kumar, WHRI, QMUL, London, UK • ‘Genetic Nurses/Counsellor’s role in multi-disciplinary genomic/OMIC healthcare’ Dr. Tootie Bueser, Director for Nursing & Midwifery, South East Genomic Medicine Service Alliance, Guy’s & St Thomas’ NHS Foundation Trust, London, UK
1500 Tea / Coffee Break 1520 Session IV: ‘The Professor Sir David Weatherall Oration - 2024” Chair: Prof. Sir Munir Pirmohamed, Patron, GMF-UK ‘DECIPHER – 20 years of mapping the clinical genome’ Delivered by – Professor Helen Firth, Sanger Genome Centre, Hinxton, UK
1630Discussion / Reflections / Vote of Thanks – Professor Sir Pirmohamed
You will learn how to predict the functional effects of genetic variants with confidence.
Suitable for researchers, clinicians, and students who want to gain a deeper understanding of how genetic variants affect protein function and disease risk. Our expert instructors will guide you through the latest methods and tools for variant effect prediction.
Over the course of three days, you will learn how to: • Evaluate the pathogenicity of genetic variants using various bioinformatics tools • Interpret and communicate the results of variant effect predictions • Ultimately improve the quality of your genetic diagnostic process
Our course is highly interactive and hands-on, with practical exercises and case studies that will help you apply what you learn to real-world scenarios. You will also have the opportunity to collaborate with other attendees and instructors in a supportive and engaging learning environment.
Don't miss this chance to boost your knowledge and skills - enroll in our course today and take your research or clinical practice to the next level.
Lock in your place
Are you ready to learn? Register now to secure your spot; our 2023 course was sold out!
UTS Cancer Genetic Counselling microcredential is now open for enrollments!
The Genetic Counselling team at University of Technology Sydney have been working on a new offering of online genetic counselling skills focused training. The subject site can be found here Cancer Genetic Counselling.
We’ve designed this subject to provide applied learning in cancer genetic counselling covering an introduction to cancer and genetic testing, including an overview of genetic testing technologies, genetic counselling and working with families, risk assessment and communication in cancer genetic counselling and applying evidence to practice, including working through case studies. The subject will introduce learners to resources that are used across our region and we are developing case studies with support from colleagues internationally.
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:
