Consortium Update - July 2018
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GG2020 2018 Conference -
Precision Medicine in Thalassaemia
7th & 8th July 2018 Penang, Malaysia.
GG2020 2020 Challenge has been making great progress in recent months. There are two important achievements to report.
First is the recent successful meeting of members held in Penang Malaysia in early July. This international meeting profiled what was happening in different parts of the world with several keynote presentations from key partners to the project, including Prof Sir John Burn, Dr Carsten Lederer from CING Cyprus and Dr Michael Angastiniotis CMO from TIF. Topics covered included addressing needs of patients in low resource settings, complexities of genotype and phenotype linking, the challenge of incorporating precision medicine into haemoglobinopathies. The full program can be reviewed on the GG2020 website and the presenters slides are available – click here
The team from Malaysia, led by Professor Zilfalil bin Alwi, who heads the Malaysian Country Node and it Co-chair of GG2020, are to be congratulated on organizing these quality meetings.
Delegates stayed on to participate in the annual meeting of the Malaysian Society of Human Genetics and the ASEAN Biomolecular Society meeting.
Second is to report that GG2020 Challenge has received funding for three years for a project to expand and ‘internationalise’ the ITHANET database and portal. This database forms the core of GG2020 activities and is based at CING in Cyprus. Following the establishment of an international expert panel to provide formal input to ClinGen on haemoglobinopathies as part of GG20202, it has become increasingly necessary to fund this work and expand the team who curates ITHANET. Those wanting the know more about this should contact Petros Kountouris who is leading the project - petrosk@cing.ac.cy - we thank the Cyprus Research Promotion Foundation who has provide the funding. Partners to the project are looking forward to three more years of successful work!
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Blockchain – heard about it? Interested in it?
In recent months, members of the Gene and Disease Locus Specific Database Council (GDLSC) of Global Variome have been sharing knowledge on this new technology and debating its utility for variant databases. This is a call for anyone interested in following this topic and being linked up to a few others who are tracking developments. If you are interested in being part of the group to monitor blockchain technologies, discuss and occasionally report back to HVP members and Councils – please contact Helen Robinson – hmro@unimelb.edu.au
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You may be aware that LOVD is undergoing some organizational changes to ensure its sustainability and will be moving under the auspices of the HVP (Human Variome Project). As part of this, we are planning to form a user group aimed at involving LOVD users more directly in its development whilst providing more training and support for users. The use of LOVD has once again grown rapidly in the past year with many more users, so it seems a good time to do this.
We are hosting a meeting at ASHG in San Diego on 17 October 7:15 - 08:45 to provide an overview of LOVD and the plans for its development in coming months.
I hope that you can join us there.
If you are not planning to be at ASHG but are interested in knowing more or being involved in the group, please send a message to
LOVDusergroup@LOVD.nl
Best wishes,
Johan den Dunnen
Click here for more
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Request for support - HGVS nomenclature
HGVS nomenclature is currently THE world-wide standard to describe changes in DNA, RNA and protein sequences used and supported by all major organisations/databases (HGVS, HVP, HUGO, NCBI, EBI, IRDIRC, ClinVar, LOVD, Decipher, COSMIC, etc.).
While this is a great achievement, facilitating standardised DNA diagnostics and variant research world-wide carries a heavy workload. More use leads to more questions to be answered. The demand for educational material and lately even a growing number of questions from the general public need to be actioned and the HGVS nomenclature web pages (http://varnomen.hgvs.org/) need to be kept up to date.
While we do our best to keep up with these demands, they have grown beyond our capabilities. We urgently need financial support.
Is your company willing to support our efforts? If so, we are willing to acknowledge this support on the variant nomenclature web page.
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