Gene Editors

FAQ

Do you have the desire and what it takes to be a Gene Editor?

Those who first clone genes and identify the first mutations causing known disease or important polymorphism are usually called on to referee papers describing further mutations. They often collect published and unpublished mutations in databases for their own purposes. Similarly others might be in a position to identify and collect large numbers of mutations in a specific gene because of their access to a group of patients. Some of these will have put their databases (Locus Specific Databases; LSDB) on the web or have written reviews about the pattern of mutations in their cohort or worldwide in their gene of interest. Because it is increasingly difficult to publish single mutations despite their value to the clinical and research community, The Human Genome Variation Society has initiated a program to publish these in Human Mutation and have them receive a PubMed ID. As it is expensive, time consuming to reference articles in the traditional manner we have initiated a system where reports of mutations will be received electronically (see www.centralmutations.org for a pilot of this). This system needs to send the report automatically and immediately to an expert in the gene for review. Some of these will have been identified due to their writing a review of mutations e.g. a Mutation Update in Human Mutation or having created a LSDB. Thus, we are endeavouring to identify individuals expert in each gene who will volunteer for this not so onerous task. It is likely that such individuals if agreeable and appropriate will become responsible for other gene specific projects such as annotation.

Criteria Desirable in Gene Editors- If you have any one of these criteria then please contact fill out form below and contact us.

1. First isolated a disease gene or polymorphic gene.

2. Described the first mutation/polymorphism in a gene.

3. Identified a large number of mutations/polymorphisms in a gene.

4. Collect mutations in a specific gene in an LSDB.

5. Mounted an LSDB on the WWW.

6. Published summary/review of mutations.

7. Other role-please outline.

GENE EDITOR REPONSE FORM

Copy the attached into an email and answer- send to:

Email:horaitis@medstv.unimelb.edu.au

Willing to be a Gene Editor: Yes

Which gene/s are you willing to gene editor for?

Please list gene/s with OMIM number.

Give the number of the criteria listed above against the gene e.g. 1st discovered etc.

Name:

Affiliation:

Email:

Two relevant publications in the last 5 years:

Comments: