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*CALL FOR PARTICIPANTS*

Online training course in curation of human gene/disease databases

(supported by Global Variome and the UNESCO 2020-2021 Participation Programme)

 

Please be aware:    given the current COVID-19 pandemic, plans may need to be changed

 

Who’s this for? participants in: African countries, least developed countries (LDCs), developing countries, post-conflict and post-disaster countries, small island developing States (SiDS) and middle-income countries. A maximum of 16 participants will be selected. Preference will be given to one participant per country, women, people early in their career and unique database (gene/disease) choices.

 

What’s required? general knowledge of human genetics, including DNA, RNA, protein, variants/mutations, inheritance patterns, phenotype, and genetic disease.

 

How will this course be delivered? online training

 

Timeline:

- January 31^st – March 31^st 2021

      Application submission from interested participants.

- April 1^st - May 31^st 2021

      Selection of participants (max.16)

- June
            Participants notified and signed up

- July - December 2021

      On-line training

      Participation in meeting/conference and certification

- January - March 2022

      Follow up after completion of training

 

Interested? –

Please submit your application by 31 March 2021, to the Global Variome office: Amy McAllister, amy@variome.org

Applications should include a CV and a motivation letter (max 1 page of A4) explaining why you want to participate in this course and on which specific gene/disease database you would like to focus on.

 

 

Background

This course will focus on activating and training young scientists to take the lead in curation of human gene/disease databases.

The major application of the analysis of genetic (DNA) diversity is its causal relation to human health, in particular rare genetic disease (DNA diagnostics). While most variants in the human DNA are neutral, i.e. do not seem to have any visible effect, some have seriously deleterious consequences for the individual carrying the variant. DNA diagnostics depends on databases with carefully collected information on the identification of specific variants, their frequency and whether they are associated with deleterious consequences or not. Diagnostic labs world-wide query these databases on a daily basis, for every variant encountered in their analyses asking the question "has the variant been seen before and, when yes, what are the associated consequences: disease associated or not?".

Global Variome, an NGO partner of UNESCO, oversees the “Global Variome shared LOVD”, the largest freely available public collection of gene/disease variant databases (see: https://databases.lovd.nl/shared). In this database over 2,500 scientists from 88 countries share information on the variants they identified and the association of these variants with human health (deleterious or not). Available data come from over 1.2 million individuals world-wide. In 2020 the database was visited by over 160,000 different users together sending over 125 million information requests.

An important aspect of the database is the involvement of Curators, i.e. voluntary scientists willing to check and curate incoming information. The Global Variome shared LOVD currently has ~460 registered curators, together curating information for ~800 of the 23,000 human genes. A curator actively follows developments in the field, scans literature for publications, requests diagnostic labs to contribute, curates data submitted and adds the collected data to the gene/disease variant database. The curator has the right to publish on the collected findings, papers which are in general highly cited. By performing this responsible task, the curator automatically becomes a recogniSed expert in the field and the obvious person to contact when questions arise. Curating a database is a valuable asset on a CV and it gives unique opportunities for collaboration.

As the requirements for curation are basically a computer and an internet connection, gene variant database curation provides an excellent opportunity for scientist world-wide to make a significant contribution. You do not need to have a large research budget, or a large lab performing thousands of diagnoses each year. To contribute and make a difference, investing your time and expertise is enough.

To be able to act as a database curator, specific skills are required. Most important is general knowledge in human genetics, including DNA, RNA, protein, variants/mutations, inheritance patterns, phenotype, and genetic disease. This expertise is part of the basic training for medical and biology students world-wide. What will be lacking is a basic training in gene/disease variant database curation, including the standards used (HGVS nomenclature and Human Phenotype Ontology). Participants joining this project will be trained to obtain these specific skills.

The course will consist of 8-10 half day sessions consisting of introductory lectures, Q&A sessions and exercises. During the course specific tasks will be given which should be completed before the next meeting. Experiences from the tasks will be discussed in the next online meeting.

Each participant will select and work on at least one specific gene/disease database. During the course, updating and curating this gene/disease in the LOVD database will be the main focus. The updated database will be one of the deliverables of the project. At the end of the project, each participant will be stimulated to write a scientific publication on the database, summarising the work performed and the insights gained regarding the disease and possible genotype/phenotype correlations observed. The course will end with participation in a scientific meeting/conference and certification.