Job Description
Unit Name:
MRC Human
Genetics Unit
Division/Section:
Job Title:
Research
Technician
Salary range:
Band:
Reports to:
Class of
appointment:
Overall Purpose:
Tenure:
Band 4
Dr Irene Aligianis
Working Hours:
Research project
Post Number
Medical &
Developmental
Genetics
Aligianis Group
£25,622 - £31,358
Open-ended (6 month
probationary period)
Full time 36 hours per
week
Background:
The postholder will be working with Dr Irene Aligianis investigating the pathogenesis of Micro and
Martsolf syndromes. These are important human diseases that will allow us to gain novel
biological insights into the roles of trafficking in eye and brain development.
Previously, Dr Aligianis had identified that mutations in RAB3GAP1 and RAB3GAP2, that encode the
heterodimeric enzyme Rab3GAP, cause of Micro and Martsolf syndromes (Nat Genet. 2005
Mar;37(3):221-3; Am J Hum Genet. 2006 Apr;78(4):702-7). RAB3GAP however is a GAP
protein that has been shown previously to specifically regulate the Rab3 pathway only, which is
implicated in regulating neurotransmitter and hormone release. Although there is a clear role for
the Rab3 pathway in cognition none of the effectors or regulators in this pathway have been
involved in structural eye and brain developmental abnormalities such as those seen in Micro
syndrome. We have recently identified that mutations in a different gene (MICRO3) cause the same
disorder. This is particularly exciting as this is a poorly characterised protein whose role in trafficking
is currently unclear. It has not been linked to the Rab3 pathway and its role in the brain and
eye is just beginning to be explored.
Research Objectives:
The aim of this project is to establish the trafficking network that MICRO3 acts in by
identifying its binding partners using immunoprecipitation and mass spectrometry along with
yeast2-hybrid studies. This work is being undertaken in collaboration with Prof Francis Barr.
Additionally we shall study the cellular effects of MICRO3 dysregulation using siRNA in neural
cell lines and then in a model organism (mouse) to try and understand the pathogenesis of
these disorders.
Working Relationships:
The research group is within the Section of Medical and Developmental Genetics of the MRC
Human Genetics Unit. The postholder will be working with Dr Irene Aligianis who is also a
clinical geneticist at the Western Hospital. Consequently there will be short periods in which
the postholder will be continuing the research work on their own.
The candidate will be liasing with other groups within the Unit which is part of the Institute of
Genetics and Molecular Medicine and with outside collaborators.
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU
Tel: +44(0)131 467 8400 Fax: +44(0)131 467 8456 www.hgu.mrc.ac.uk
Job Description
Organisational Position (insert organisation chart) :
Professor Nicolas Hastie
Unit Director
Professor Veronica van Heyningen and Professor Ian Jackson
Joint Heads of Medical and Developmental Genetics Section
Dr Irene Aligianis Clinical Research Fellow/ Honorary
Consultant Clinical geneticist
Postholder
Main Duties:
The main duties the postholder will be:

Designing experiments and developing the underpinning technologies to support these

Interpretation of results

Determining next steps in the project

Recording data and methods accurately in tidy and methodical and retrievable manner

Preparing data and presenting at research team meetings

Preparing data for publication and presentation at Scientific meetings
The initial experiments will focus on the protein interactions and cellular roles of MICRO3. The
postholder will then have a key role in the characterisation of the MICRO3 mouse.
The envisaged skills and techniques that will be needed for this project include :

Culture of various mammalian cell types

Breeding and husbanding transgenic lines and their analysis at a phenotypic and
functional level.

Light and fluorescence microscopy (confocal microscopy)

Establishment of cell lines from model organisms
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU
Tel: +44(0)131 467 8400 Fax: +44(0)131 467 8456 www.hgu.mrc.ac.uk
Job Description

Histology/pathology

Immunohistochemistry
There is a huge collective knowledge of techniques in molecular and cellular and
developmental biology in the section. Therefore advice and training will be available for most
approaches used.
Key Responsibilities:

Leading individual components of the project with a clear vision of the groups overall
research strategy

To seek out new techniques that can be applied to the study by researching the
literature, internet sources and liasing with colleagues

To ensure that any new methods are thoroughly assessed before being introduced into
the lab

To identify new publications relevant to the field and have significant input to
discussions about future research directions

Contributing to writing scientific papers : producing methods sections, results and
figures and tables

A meticulous and tidy approach to documentation, sample handling and reporting is
essential

Monitoring of the research projects budget and interacting with the line manager to
ensure coordination of spending

To contribute to health and safety procedures including COSSH and risk assessments

Ensuring that research materials are available and organising repairs of faulty
equipment through interaction with technical services

To contribute to the general lab housekeeping ( according to the set rotas)

To provide supervision and support to new staff as the group expands
Employment Checks:
Please note that final appointment will be subject to pre-employment health and
security screening and references
Security level required : G
Additional Information:
Further information on MRC Human Genetics Unit can be found at: www.hgu.mrc.ac.uk
For formal enquiries email : personnel@hgu.mrc.ac.uk
To apply please submit your CV with a covering letter with contact details for two referees.
Closing date: 30 November 2009
Interviews will be held locally and the interview date has been set at the 14/15 December
2009
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU
Tel: +44(0)131 467 8400 Fax: +44(0)131 467 8456 www.hgu.mrc.ac.uk
Job Description
Equality & Diversity:
The MRC values the diverse skills and experience of its employees and is committed to
achieving equality of treatment for all. Its objective is that all individuals shall have equal
opportunities for employment and advancement on the basis of their skills, aptitudes and
abilities. The MRC is committed to the engagement and retention of the best possible talent
and to creating an environment that encourages excellence in scientific research through
good equalities and diversity leadership and management.
Corporate/Local responsibilities & requirements:
The job holder must at all times carry out their responsibilities with due regard to the MRC’s:




Code of conduct
Equality & Diversity Policy
Health & Safety Policy
Information technology policy and Data protection Act
Job descriptions should be reviewed on a regular basis and at the annual appraisal. Any
changes should be made and agreed between postholder and line manager
The above lists are not exhaustive and the job holder is required to undertake such duties as
may reasonably be requested within the scope of the post. All staff are required to act
professionally, co-operatively and flexibly in line with the requirements of the post and the
MRC.
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU
Tel: +44(0)131 467 8400 Fax: +44(0)131 467 8456 www.hgu.mrc.ac.uk