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GV Newsletter - July 2021

https://mailchi.mp/6d44df00cc88/hugo-newsletter-april-4928346?e=93495c83ac

 



We are now formally sharing the news that the 25th Human Genome Meeting has been postponed to 23-25 May 2022, due to the COVID-19 pandemic.
 
More information, please visit: https://www.hugo-hgm2022.org/
 
 


Proposal SVD-WG010 (var distance) is now open for Community Consultation. You are invited to review and comment on this proposal.  
 
Click here to view the proposal

 
Deadline for comments - Friday 30th July- comments to VarNomen@HGVS.org">VarNomen@HGVS.org

 
Thank you
On behalf of the Sequence Variant Description Working Group,
Johan den Dunnen (chair)
 


HGVS nomenclature Q&A sessions have started!
 
On June 22, we started an experiment, an online HGVS nomenclature session. We thank those who dared to attend the first session; there is always the danger of technical issues. But not this time, everything went smoothly. We had a mix of experienced users and nomenclature beginners who enjoyed the chance to practice and discuss relevant nomenclature issues.
 
The session started with a brief welcome from Johan den Dunnen, chair of the HGVS nomenclature committee. Next, were a series of prepared questions for the participants to answer using the DirectPoll system. Participants were able to see each other’s answers anonymously. After each question, the answers were revealed and explained. Was it easy? Certainly not. One question in particular was answered incorrectly by all, even from the experienced users of the group. But this is why we wanted to hold these sessions, giving people a chance to practice and discuss in a safe environment. After the prepared questions, there was time for participants to ask specific questions directly.
 
For those interested to give it a try, the Q&A session is available using Socrative, classroom HGVSonline (https://api.socrative.com/rc/ibPQGW).
 
 
Our next session will take place on Tuesday 24th August, at 3pm UTC. We have alternated the timings of each session to accommodate all time zones. For your time zone, please click here
 
To register for the next session, please click here. You can also see this event listed on the Human Genome Organisation’s(HUGO) Facebook page. We record the meeting for those not able to join. 
 
 
The questions from the Q&A session will be taken from those we receive daily and be a mix of simple and more complex cases. The idea is that you train yourself and learn HGVS nomenclature by applying the recommendations. For those not able to participate, the questions will be available afterwards using the Socrative platform (www.Socrative.com, classroom to be announced).  For the 'questions from participants' session, everybody is encouraged to send questions to VarNomen@HGVS.org so we can prepare. Of course, we will also allow you to ask questions 'live'.
 
 
If you have any comments, suggestions or questions you would like answered for these sessions, please let us know. 
 
Interested to support the HGVS nomenclature work? Please consider sponsoring one of the bi-monthly meetings. For details, please contact amy@variome.org">amy@variome.org. Of course, we will acknowledge sponsorship in advertisement and during the meeting.
 
 

 

UNESCO Online Database Training Course

Financially supported by a grant from UNESCO, Global Variome is organising an "Online training course in curation of human gene/disease databases". Interested students from all over the world applied earlier this year. A Global Variome committee has now selected the 16 participants that are allowed to enter the course. Selected participants come from 12 different countries: Argentina, Cameroon, Egypt, Ethiopia, India, Malaysia, Mexico, Nigeria, Romania, Senegal, Turkey and South Africa.
 
The online training sessions will be held on Mondays over the next few months. To accommodate the 13-hour time difference between the participant's home countries, there will be alternating morning and afternoon sessions (based on UTC). Sessions will be recorded and made available for the participants who are unable to join. Between sessions participants will have to complete specific tasks focussing on a gene/disease they have selected. At the end of the course the participants will be curator for one of the genes in the "Global Variome shared LOVD" (http://databases.lovd.nl/shared">http://databases.lovd.nl/shared). The first session will start July 19, 8 am (UTC).

 
SVD-WG: thank you Donna Maglott!

Donna MaglottThe HGVS nomenclature committee, the Sequence Variant Description working group (SVD-WG), is a group of experts guarding the nomenclature recommendations. The committee currently exists of eight members and three observers (representing HGVS, GV/HVP and HUGO). Until now, membership of the committee has been assigned on an ad-hoc basis. The plan is to make membership of the HGVS nomenclature committee a more open process where candidates apply for membership and committee members serve a specified term time. The plan is to start this process
later in the year, under the umbrella of the new HUGO, where the three organisations supporting the HGVS nomenclature have started to collaborate more closely.
 
Donna Maglott (NCBI) has recently decided to step down as a member of the SVD-WG. Donna will be replaced by Terence Murphy (NCBI). From the start, Donna has been a very active and responsive member of the SVD-WG. Her input, expertise, commitment to standards, spirit of collaboration and the discussions within the committee have always been appreciated. Donna made essential contributions to the HGVS nomenclature recommendations as they are now. These recommendations are not perfect, they will probably never be, but they are of very high quality, serve a need and this is why they are applied as THE standard world-wide, especially in a diagnostic setting. Donna can be proud on having played an essential role towards this achievement.
 
Donna, on behalf of the SVD-WG, thank you very much, enjoy your well-deserved retirement!
 
 

File:Flag map of the United Arab Emirates.svg - Wikimedia CommonsUAE launches new Centre for Genomic Discovery
 

"The UAE has launched a 'first-of-its-kind' Centre for Genomic Discovery, which will help diagnose and treat patients with genetic disorders as well enhance local genomic research and train the country’s next generation of scientists"


For more information, click here 

 


"In response to the global COVID-19 pandemic, we are no able to organize the traditional conference and celebrate all together the 20th Gene Forum"

"This year's presentations will cover themes from the use of genomic data in personalized medicine and applications in healthcare, pharmacogenomics, regulatory genomics and molecular functions, population genomics and human microbiome interactions. Given the situation in the world, this year's Gene Forum will also have a session on COVID-19 research."
 
For more information, see the event page
 
 
BC2

Harnessing biological data: from molecular processes to human health


[BC]2 Basel Computational Biology Conference
13 – 15 September 2021
Congress Center Basel, Basel, CH


Early bird registration now open! 

For more information, see the event page 
 
 


The 5th Variant Effect Prediction Training Course
is open for registration!
 
Earlybird registration ends 19th of July so register now to make a saving!

This year the course will be an immersive virtual experience and will take place from the 21st to the 23rd of September 2021.  Core topics will be delivered live with ample opportunity for Q & A; some topics will be on-demand.  

Participants will have access to recordings after the course.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

VEPTC 2021 will be a fully immersive virtual event using the Attendify platform.
 

The course will include:

  • Variants in the genome, position & possible consequences
  • NGS: what method to apply (gene panel, WES or WGS) and where technology fails
  • NGS limitations: sequencing technologies / calling variants (SNV+CNV+SV)
  • CNV calling/ analysis: applications and challenges
  • SNV calling/ analysis: applications and challenges
  • HGVS Nomenclature; describing variants
  • Human Phenotype Ontology (HPO)
  • Integration of phenotypic and genomic data to diagnose patients with rare diseases 
  • Annotating variants
  • Variant Classification (ACMG recs.)
  • Prediction tools
  • Ensembl Genome Browser
  • UCSC Genome Browser
  • Future developments
  • Qiagen variant interpretation workshop
  • & more…

VIEW THE PROGRAM HERE: https://veptc.variome.org/program.html 

We invite you to register, and submit an abstract for consideration as a virtual poster (only if you wish) and look forward to your participation.  

REGISTER HERE: https://veptc.variome.org/registration.html

Further details about the event may be found on the website:  veptc.variome.org
 
 
 

GA4GH 9th Plenary

registration is now open!


GA4GH 9th Plenary will be held virtually on September 28–29. We are excited to continue engaging our global community in advancing data sharing for the benefit of human health and medicine. GA4GH 9th Plenary is a free event and, as always, open to the public.
 
For more information, see the event page
 


We go virtual in 2021! EHTG's 5th Meeting was cancelled because of the Covid-19 pandemic. This year we are back and will host our annual Meeting on October 8 and 9 2021 as an online congress
 
You can already register for the event or become a member and enjoy complimentary registration for the meeting. Abstract submission is now open.
 
 
 
 


We welcome you to the 14th International Congress of Human Genetics (ICHG2022)to be held in Cape, South Africa, proudly hosted by the African Society of Human Genetics (AfSHG) and the Southern African Society for Human Genetics (SASHG).
 
Taking into account the COVID-19 pandemic, we are formally sharing the news that the ICHG will be postponed to 13 – 17 February 2022.
 
Warm regards
Raj Ramesar and Charles Rotimi
(Co-Chairs LOC/ICHG 2021)
 
 
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Posted by on in Press Releases
GV Newsletter - June 2021


https://twitter.com/humangenomeorg/status/1400363296725819392
 
Complete Human Genome Sequence

New Scientist Default Image
On June 26, 2000, the draft human genome sequence was announced. 21 years later, on May 27, 2021, the Telomere-to-Telomere (T2T) consortium has completed the human genome sequence! The remaining 8% of missing genetic data was added, capping the full sequence at 3.055Bbp!

Read the fill article here:
https://www.biorxiv.org/content/10.1101/2021.05.26.445798v1
 
 


NEW - HGVS nomenclature Q&A session
 
We receive a lot of questions regarding HGVS nomenclature. Currently, these questions are all answered by private e-mail, with some examples published on the nomenclature Facebook page

In order for users to gain real practical experience carrying out nomenclature tasks, we are going to try something NEW:
 
.
 
            bi-monthly online HGVS nomenclature Q&A sessions
 
The first meeting will take place on June 22, 8:00am GMT (check your own time zone here)
 
The meetings will be bi-monthly, on the 4th Tuesday of every 2nd month (even months). We will alternate the time of the meeting in order to allow people from either Asia+Australia, Europe+Africa or North+South America to follow the meeting during the day. We plan to record the meeting for those not able to join.
 
Meetings will take 60 minutes and have a standard format:
1) Short welcome (5 min)
2) Participants answer questions (35 min)
3) Questions from participants (15 min)
4) Close of meeting

For questions to be answered by participants we will use an online polling system (DirectPoll).  Questions will be taken from those we receive daily and be a mix of simple and more complex cases. The idea is that you train yourself and learn HGVS nomenclature by applying the recommendations. For those not able to participate, the questions will be available afterwards using the Socrative platform (www.Socrative.com, classroom to be announced).  For the 'questions from participants' session, everybody is encouraged to send questions to VarNomen@HGVS.org so we can prepare. Of course, we will also allow you to ask questions 'live'.
 
 
For HUGO members, participation will be free. Details for non-members to join will be shared later. To register your interest, please contact amy@variome.org
 
Interested to support the HGVS nomenclature work? Please consider sponsoring one of the bi-monthly meetings. For details, please contact amy@variome.org. Of course, we will acknowledge sponsorship in advertisement and during the meeting.

 
 


For more info click here
 
 


It's not too late to sign up to our Scientific Conference: Data Insights in a Pandemic. Taking place on 23rd June, the #HDRSciCon will be an exciting full day virtual event showcasing the latest advancements in health data science. 

 
 
 
https://www.ivvy.com.au/campaign/link/process/id/6e7fd0cc6cedef3f9014ed9e963270da/s/9c7b38a1e5345caad81d3f21e989566a/account/613/report/56626">VEPTC 2021 IMAGE
https://www.ivvy.com.au/campaign/link/process/id/6e7fd0cc6cedef3f9014ed9e963270da/s/9c7b38a1e5345caad81d3f21e989566a/account/613/report/56626">VEPTC2021 image

Don't miss your opportunity to learn - attend VEPTC 2021!

We are excited to announce that the next Variant Effect Prediction Training Course is now open for registration!

This year the course will be an immersive virtual experience and will take place from the 21st to the 23rd of Sept. 2021.  Core topics will be delivered live with ample opportunity for Q & A; some topics will be on-demand.  We invite you to register, and submit an abstract for consideration as a virtual poster (if you wish) and look forward to your participation.   

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

To find out more please visit the website.
 

...

Posted by on in Press Releases
GV Newsletter - April 2021



Last month, we held our 1st HUGO Executive Board meeting, combining the efforts of HUGO, HGVS and HVP into one merged organisation! 

 
 


The deadline for the Online training course in curation of
human/gene/disease databases has passed!

We 
received an incredible 32 applications from all over the world for a 16 participant course. These applications are currently with our Select Committee.

Thank you applicants, you will be notified of the outcome in June!


        
 


NEW - HGVS nomenclature Q&A session
 
We receive a lot of questions regarding HGVS nomenclature. Currently, these questions are all answered by private e-mail, with some examples published on the nomenclature Facebook page

In order for users to gain real practical experience carrying out nomenclature tasks, we are going to try something NEW:
 
.
 
            bi-monthly online HGVS nomenclature Q&A sessions
 
The first meeting will take place on June 22, 8:00am GMT (check your own time zone here)
 
The meetings will be bi-monthly, on the 4th Tuesday of every 2nd month (even months). We will alternate the time of the meeting in order to allow people from either Asia+Australia, Europe+Africa or North+South America to follow the meeting during the day. We plan to record the meeting for those not able to join.
 
Meetings will take 60 minutes and have a standard format:
1) Short welcome (5 min)
2) Participants answer questions (35 min)
3) Questions from participants (15 min)
4) Close of meeting

For questions to be answered by participants we will use an online polling system (DirectPoll).  Questions will be taken from those we receive daily and be a mix of simple and more complex cases. The idea is that you train yourself and learn HGVS nomenclature by applying the recommendations. For those not able to participate, the questions will be available afterwards using the Socrative platform (www.Socrative.com, classroom to be announced).  For the 'questions from participants' session, everybody is encouraged to send questions to VarNomen@HGVS.org so we can prepare. Of course, we will also allow you to ask questions 'live'.
 
 
For HUGO members, participation will be free. Details for non-members to join will be shared later. To register your interest, please contact amy@variome.org
 
Interested to support the HGVS nomenclature work? Please consider sponsoring one of the bi-monthly meetings. For details, please contact amy@variome.org. Of course, we will acknowledge sponsorship in advertisement and during the meeting.

 
 
BRCA Exchange is thrilled to announce that gnomAD 3.1 will be part of our next release!   We have integrated the gnomAD 3.1 non-cancer subset, which contains whole-genome data from more than 74,023 ethnically-diverse samples, and increases the BRCA Exchange variant count by 25,406 BRCA variants to 65,822 variants altogether!  Moreover, this globally-diverse population dataset is a rich source of information for variant interpretation.  We are currently working with the ENIGMA and ClinGen consortia to leverage these data for variant interpretation, and anticipate that they will lead to the expert curation of tens of thousands of unclassified BRCA variants. 
 
 

InSiGHT awarded funding from the NIH through ClinGen/ClinVar to support the Variant Interpretation Committee around the world, which is now the ClinGen Variant Classification Expert Panel (VCEP) for Colorectal Cancer & Polyposis, so covering MMR, APC, MUTYH, POLD1/E, & hamartomatous genes.

 
The InSiGHT DNA Database Governance Committee has transitioned, with new members Ian Frayling and Gabriel Capella (both InSiGHT Councillors), Marc Greenblatt, Stefan Aretz (each InSIGHT members). Rolf Sijmons continues as a member. Finlay Macrae is the Councillor responsible ex officio and JohnPaul Plazzer the overall curator of the databases.  We are grateful for the wise council of Muarizio Genuardi and Mike Woods who have retired from their roles as members of this committee.
 
 InSiGHT's Variant Interpretation Committee has morphed into, and with, ClinGen as the ClinGen InSiGHT Variant Curation Expert Panel (VCEP). There are several subVCEPs within this, covering the genes of major interest in hereditary colorectal cancer: the mismatch repair genes, APC, MUTYH, STK11, BMPR1A, SMAD4, POLE, and POLD1. The MMR InSIGHT VCEP is well established and accepted by ClinGen for its work in curation of the MMR genes. The invitation from NIH to support the curation of the less developed genes (with respect to curation) was addressed by InSiGHT in a proposal lead by InSiGHT members Marc Greenblatt and Matt Ferber. This covered all the non MMR genes listed above and of interest to InSIGHT. It was successful!
 
 The grant will cover work by John Paul Plazzer, other new biocurators, and administration. The curation will be rolled out progressively. Already there are regular fortnightly meetings being held relating to APC, through the chairmanship of Stefan Aretz (Germany) and supported by Deb Ritter in USA.  Elke Holinski Feder remains chair of the MMR VCEP, supported by Andreas Laner in Munich which meets regularly also.  Addressing discordant pathogenicity assertions as registered on the ClinVar (USA NIH) database is a high priority and the challenges of applying the ACMG framework for curation of genes to the specific genes under attention, are major components of ongoing work.
 
Special recognition of medical and genomic health students Lachlan O'Connor, Matt Daly, Sherry Yin, Varun Kaushik and Marissa Rose has been instituted by InSiGHT Council. Sherry continues as an active biocurator for APC variants.
 
 
 
Clinical DNA Variant Interpretation - 1st Edition - ISBN: 9780128205198, 9780128205204
I am proud to share with you a recent book publication,
"Clinical DNA Variant Interpretation: Theory and Practice"

Congratulations to those HVP ISAC members
who wrote chapters in the book! 
 
https://www.elsevier.com/books/clinical-dna-variant-interpretation/lazaro/978-0-12-820519-8
 


Visit Event Page
 
 

   Curating the Clinical Genome (Virtual Conference)

   May 12th - 14th 2021

   Wellcome Genome Campus, UK 

   The conference will bring together the clinical genomics and biodata community to discuss best               practices for the clinical use of genomic data, including interpretation and clinical utility, and the consensus generation of curated knowledge. This is latest in the series of meetings on this topic, which have been spearheaded by the ClinGen and DECIPHER consortia.
   
 

IHCC 4th International Cohorts Summit: May 25-27, 2021

Modern connection technologies background . Mixed media

IHCC members are invited to save the dates for the 4th International Cohorts Summit of global leaders of large-scale longitudinal cohorts on Tuesday, May 25 through Thursday, May 27, 2021 hosted by the International HundredK+ Cohorts Consortium (IHCC). This virtual event follows the May 2020 3rd International Cohorts Summit and will build upon the strategic planning initiative kicked-off at the IHCC Members Workshop in November 2020. 


Visit Event Page
 
ICGC ARGO

Due to the ongoing COVID-19 pandemic and restrictions currently imposed the International Cancer Genome Consortium 17th Scientific Workshop / 4th ARGO Meeting will take place virtual from the 14th - 15th May 2021 and will be hosted from Peking University, Beijing, China.

Visit Event Page
 

Cancer Genomics & Haematological Disorders Conference:
June 8-11, 2021

Dear Healthcare Professionals,

On behalf of Newcastle University and Members of Malaysian Laboratory Haematology Society (MMLHS), it is our great honor and pleasure to invite all of you to a virtual seminar entitled Cancer Genomics & Haematological Disorders  which will be on June 8th to 11th, 2021. With the health and safety of all participants being our topmost priority, this online course would be the best solution for all of us.

Register now and the secretariat will soon send you detailed information on the webinar. Looking forward for your participation in this virtual seminar.

Thank you.

...

Posted by on in Press Releases
GV Newsletter - February 2021

 


As you know back in 2016, and after the death of Dick Cotton, we moved the HVP office from Melbourne and formed a UK charity under the name Global Variome. For the last 18 months we have been in talks with HUGO over a potential merger between HVP, HUGO and HGVS. I am pleased to tell you that we are in the final stages and are planning to pilot the new merged organisation over the next year.  

As a member of HVP, this merger should cause little disruption to the great work you are doing.

With this new merger, we plan to combine our HVP committees; for those interested in maintaining their membership with the Human Variome Project, we hope that you will join this new group. Our goal is the same; to maintain an international network of individuals and industry to ensure that all genetic variation information can be collected, curated, interpreted and shared for the benefit of human health. 

We will operate under the collective membership of HUGO. Members will be invited to associate with HVP and/or HGVS, each of which will have dedicated committees within the structure and have seats on the executive board. We will have a dedicated section in the Human Genome Meeting.  The Global Variome will retain its separate identity as an associate NGO of UNESCO and will facilitate educational activities there.  

We will share further details as they become available.  If you have questions please contact us via email to amy@variome.org

...
PUBLISHED - Quality Assessment Criteria for Variation Databases

 

Click here to view the paper 

 

These guidelines have now been published on the HVP website. 


We encourage all memebers to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming meetings

This paper is the result of the work of many HVP members and we thank them very much – in particular the authors, Mauno Vihinen and John Hancock

...
PUBLISHED: Ethics Checklist for Database Curators and Submitters

Click here to view the paper

We encourage all members to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming national meetings and local workshops

 

The paper has also appeared online at Human Mutation. PDF not available here as of yet. 

https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23881.

Click here to view the paper

Media Release
For Immediate Release

Kuala Lumpur, 17 March 2015—Patients with one of a number of devastating genetic blood disorders, such as thalassemia and sickle cell anaemia, will benefit significantly in the coming years from a new international project announced today at the annual Human Genome Organisation meeting in Kuala Lumpur. The Global Globin 2020 Challenge (GG2020), an initiative of the Human Variome Project—an international scientific NGO working with UNESCO and WHO to build medical genetics and genomics capacity, particularly in low- and middle-income countries—will apply recent developments in human genomics involving the systematic collection and sharing of genetic variation data to fighting these blood disorders, referred to technically as haemolytic anaemias.

In particular, the Challenge will build an evidence base for the better management of delivery of local treatment, care and eventually cure for these diseases by ensuring that there is sufficient local capacity to deliver services. It is believed that the Challenge will put in place the skills and expertise in genomic medicine needed to effectively tackle other health issues in these countries as well.
The Challenge is being led by two leading geneticists, Professor Zilfalil bin Alwi from Malaysia and Professor Raj Ramesar from South Africa. Both are members of the Human Variome Project Board and can see the benefits this project will bring to their patients and others in South East Asia, Africa and the rest of the world.

Human Variome Project International (HVPI) Chairman, Chris Arnold, who chaired the HUGO session introducing the project, thanked the GG2020 challenge co–chairs and fellow HVPI directors, Professor Zilfalil Bin Alwi, from Universitie Sains Malaysia and Professor Raj Ramesar from the University of Cape Town South Africa for their leadership and willingness to coordinate this major global initiative. Mr Arnold stated “The haemolytic anaemias collectively, are cause for significant morbidity and mortality, especially in parts of the world where health systems are often less well developed. Children are often most severely affected. Despite much being known for a long time about the genetics and biology of the haemolytic anaemias and this knowledge being used successfully in some countries to systematically reduce burden of disease, low- and middle-income countries have remained practically untouched by this knowledge and innovations.”

In launching the Challenge, Professor bin Alwi said, “The Malaysian Node of Human Variome Project is honoured to be given the privilege to co-chair this Global Globin Initiative. Hemoglobinopathy, in particular Thalassaemia, is a common disease in Malaysia where about 5% of the population are carriers of the disease".

...

Media Release
For Immediate Release

Paris, France, 21 May—The diverse range of human genomics research projects being undertaken by African institutions and researchers involved in the Human Hereditary and Health in Africa (H3Africa) Consortium was highlighted yesterday during the 5th Biennial Meeting of the Human Variome Project Consortium. The lead researchers from seven African nations involved in the H3Africa Consortium presented their ongoing work at a special session of the Human Variome Project meeting that was opened by Mdme Robertine Raonimahary, Director of the United Nations Educational, Scientific and Cultural Organisation’s (UNESCO) Africa Department Office for Cooperation and partnerships between Member States.

“It is no secret that Africa’s history has been marked by a development narrative in which the benefits from science, technology and innovation have been enjoyed by few,” said Raonimahary. “Today it is changing and Africa’s leaders view science, technology and innovation as critical to human development and global competitiveness and increasingly are investing more substantially in research, quality science education and upgrade of research and teaching infrastructure. Over the last few years the biggest revolution is occurring in genomic research. Nowadays Africans have the highest levels of genetic diversity within and among populations and the study of this diversity can contribute immensely to this area of science. First of all to reconstruct human demographic and evolutionary history, to study the African Diaspora and African ancestry globally, to study the genetic basis of susceptibility to communicable and non-communicable diseases and finally to understand differences in drug response.”

The projects being presented ran the gamut of human genomics research from identifying the genetic variants involved in the development of diseases primarily affecting individuals of African descent to investigating the underlying genomic components of susceptibility to infectious diseases such as trypanosomiasis. Researchers also reported on the development of a continent spanning bioinformatics capability and a network of state-of-the-art biorepositories.

Professor Raj Ramesar from the University of Cape Town, who chaired the session and sits on the H3Africa Steering Committee, said, “Twenty-seven African nations are currently involved in the H3Africa Consortium covering twenty research project n diseases of local relevance with funding in the order of US$74 million provided by the US National Institutes of Health and the UK Wellcome Trust. The session during the Human Variome Project meeting was directed at bringing the progress and results of these important projects to the attention of African governments and highlighting the current research impetus in their countries towards translating the outcomes of these projects for local utility.”

...

Media Release
For Immediate Release

Melbourne, 10 October - Efforts to fully document the full scale of human genetic variation and its role in illness and disease were boosted last week with the launch of the Human Variome Project South East Asian Node.

The Human Variome Project is an international initiative, coordinated from Melbourne, to ensure that discoveries about the human genome and how it affects our health are routinely shared in a free and open manner.. The Human Variome Project South East Asian Node will assist the national efforts of Malaysia, Brunei, Vietnam, Singapore and Thailand to share information on genetic variations in South East Asian populations between member nations and the rest of the world.

"This is a tremendous step forward for these countries," said Professor Richard Cotton from the University of Melbourne and Scientific Director of the Human Variome Project, who was present at the launch ceremony in Melaka, Malaysia on the third of October. "These countries obviously recognise that genetic and genomic healthcare is an important part of a well developed health system and they are serious about providing these services to their citizens."

Once thought to only contribute in a major way to a small subset of diseases that primarily affect children, genetics is now seen as being important to almost all areas of human health.

...

Media Release
For Immediate Release

Melbourne, 23 August — The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn, Deputy Chair of the Project’s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday, 3 rd September, 2013.

Professor Sir Burn is currently the lead clinician for the UK National Health Service (North East), and genetics lead for the UK National Institute of Health Research. He was previously a director of the Institute of Genetic Medicine at The University of Newcastle-Upon-Tyne (2005-2010), and president of the European Society of Human Genetics (2007).

Professor Burn is widely regarded in the field of monogenic disorders particularly in establishing the genetic basis of a neurodegenerative disorder called neuroferritinopathy, and the major form of hereditary colorectal cancer called the Lynch syndrome. He led the study that demonstrated the use of aspirin in reducing the risk of colorectal and other cancers in persons with Lynch syndrome, and leads an international consortium investigating chemoprevention in persons with hereditary non-polyposis colon cancer.

He is currently exploring cell-based vaccines for colorectal cancer, and is involved in a startup company which aims to develop the use of nanowires, nanotubes and nanoribbons in genotyping and gene sequencing.

...