Job Description
Unit Name:
Human Genetics
Unit
Division/Section:
Job Title:
Career
Development
Fellow
Salary Band:
Band:
Reports to:
Class of
appointment:
Overall Purpose:
Tenure:
4
David Fitzpatrick
Working Hours:
Science
Post Number
Medical &
Development
Genetics –
Fitzpatrick
Group
£25,622 –
£31,358
3 years
(fixed term)
36 pw
Identification and characterisation genes causing eye and limb malformations in
mice and humans
Working Relationships:
This post will work within the FitzPatrick group in the MRC Human Genetics Unit.
This lab focuses on the identification of genes causing craniofacial malformations in
humans, particularly cleft palate and severe eye anomalies, with the aim of
understanding the genetic basis of developmental control during human
embryogenesis. This post will continue an existing project to identify new disease
genes underlying the autosomal recessive disorder Ophthalmo-Acromelic syndrome
(OAS). OAS is characterised by severe eye malformations and unusual
malformations predominantly affecting the lower limb. We have two mapped loci for
this disorder but the causative genes have yet to be identified. The successful
candidate will create dense microsatellite maps of both loci and will screen candidate
genes for homozygous changes. Any mutations we identify will be assessed
bioinformatically and functionally using developmentally relevant, cell-based assays
that have the potential to help us understand the consequence of mutations in
individual genes. The post will also continue ongoing work into a mouse model of
OAS where the mutation has been identified but the pathological mechanism has still
to be fully elucidated.
Research diagnostic work requires a meticulous approach to sample identification,
quantitation and storage. Appropriate use of negative and positive controls in all
patient sample analyses is essential as is verifying all positive mutation results using
an independent assay.
We will use a combination of novel cell-based assays and in situ expression in
embryos to understand the developmental function of individual candidate elements
around specific loci mentioned above. In consultation with the group leader, this post
will be required to lead specific research projects within the program including the
generation of specific hypotheses, developing appropriated study design and
completing the required analytical approaches. This will require reviewing different
Page 1 of 4
MRC Human Genetics Unit Western General Hospital Crewe Road
Edinburgh EH4 2XU
tel:+44(0)131 467 8400 fax: +44(0) 131 467 8456 www.hgu.mrc.ac.uk
Job Description
sources of scientific information on a specific topic. This area of biology is developing
rapidly and an enthusiasm and ability to acquire new molecular skills rapidly is
essential. Teaching and mentoring students is an important component of this aspect
of the job. We work as a team and it is important that resources are catalogued and
retrievable.
Organisational Position:
Main Duties:
This job will focus on the using standard technologies to identify mutations in the
genes causing human human ophthalmo acromelic syndrome. This will require a
combination of skills:
 Handling case and control cohort DNA and RNA samples (5% of time)
 Identifying and optimising assays for microsatellite markers mapping
within the human OAS loci (15%)
 Intragenic mutation analysis using standard PCR sequence analysis (20%
of time)
 Developing strategies for mutation analysis using new sequencing
technologies (10% of time)
The interpretation of mutations will use a combination of techniques:
 RNA/Protein quantitation using whole-mount in situ hybridisation, realtime quantitative RT PCR, ELISA or western blotting (20% of time)
 siRNA or expression construct analysis of mutations (10% of time)
 Growth and maintainance of mammalian cell lines (5% of time)
Literature reviews, figure and writing papers (5% of time)
Page 2 of 4
MRC Human Genetics Unit Western General Hospital Crewe Road
Edinburgh EH4 2XU
tel:+44(0)131 467 8400 fax: +44(0) 131 467 8456 www.hgu.mrc.ac.uk
Job Description
Some teaching and supervision of staff and students (5% of Time)
A contribution to general laboratory duties (5% of Time)
This is a large unit with an enormous collective knowledge of molecular, cellular
and developmental biology, advice and training will be readily available for any
technique.
Key Responsibilities:




Leading individual research projects with a clear vision of the groups
overall strategy
Contributing to the writing scientific papers: producing methods section,
figures, legends and text that are suitable for inclusion in the results
sections
To actively seek out new techniques that can be applied to human genetic
analysis and ensure that all new methods are rigorously assessed before
being introduced continually into the laboratory arsenal. This requires an
enthusiastic approach to acquiring new molecular skills.
A rigorous and tidy approach to documentation, sample handling and
reporting are crucial. An appreciation of the important of continually
optimising the processes involved in analysis of a large number of patient
samples is essential
Employment Checks:
Security
Agenda check level required: A
Health
Pre-employment health check prior to employment
References
References will be requested prior to interview and include most recent employer
Additional Information:
This is an MRC funded Career Development Fellowship for 3 years, offering
training and development for post-doctoral scientists who have either recently
completed their doctoral studies, are moving into a new research discipline, have
limited previous experience of key transferable skills, or are clinically qualified
with little or no research experience.
They provide opportunities to develop research project skills and collaborative
links with colleagues within the Institute and elsewhere.
Further information on MRC Human Genetics Unit can be found at:
www.hgu.mrc.ac.uk
For informal enquires email: David.FitzPatrick@hgu.mrc.ac.uk or
personnel@hgu.mrc.ac.uk
CV must be included with application.
Closing date:
8 May 2009
Page 3 of 4
MRC Human Genetics Unit Western General Hospital Crewe Road
Edinburgh EH4 2XU
tel:+44(0)131 467 8400 fax: +44(0) 131 467 8456 www.hgu.mrc.ac.uk
Job Description
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
 Equal opportunities Statement
 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 in a professional, co-operative and flexibly in line with the
requirements of the post and the MRC.
Page 4 of 4
MRC Human Genetics Unit Western General Hospital Crewe Road
Edinburgh EH4 2XU
tel:+44(0)131 467 8400 fax: +44(0) 131 467 8456 www.hgu.mrc.ac.uk