Download PhD studentship Identifying Mendelian single gene defects of

Department of Medicine
Section of Virology and Paediatrics
PhD studentship
Identifying Mendelian single gene defects of invasive
meningococcal disease
Payment of Home/EU Fees
and a stipend of £17,500 approx. per annum for 3 years
Duration of Studentship: 36 months
We are looking for a doctoral student to investigate the role of genetics in a cohort of paediatric
invasive meningococcal disease (IMD) patients. The successful candidate will join Dr Vanessa
Sancho-Shimizu, (Virology and Paediatrics, Imperial College London) and Prof Michael Levin
in an exciting project at St Mary’s Medical School, Imperial College London.
Project: Identifying Mendelian single gene defects of invasive meningococcal disease IMD is
a rare disease affecting children and young adults due to infection with Neisseria meningitidis.
Although most people have been exposed to N. meningitidis, the majority do not develop IMD,
suggesting that those that succumb to invasive disease may possess an underlying genetic
susceptibility. The notion of a genetic contribution to disease manifestation is also supported
by the finding that patients with congenital complement deficiencies or properdin deficiency
are susceptible to recurrent IMD. Notably, children suffering from IMD are otherwise healthy
pointing to the likelihood that they harbor an unidentified form of primary immunodeficiency
with a specific selective susceptibility to meningococcal disease.
The primary goal of the project is to identify single gene disorders of immunity that underlie
susceptibly and severity of childhood IMD. We have carried out whole exome sequencing and
identified novel candidate genes involved in IMD. Complete functional validation of these
findings, including sequence and molecular validation specific to the gene, will be carried out
in order to assess its role in anti-meningococcal response.
Skills/Background Required:
The ideal candidate should have a Bachelor’s degree ideally in human molecular genetics,
infectious diseases, or immunology. In addition a Master’s degree in an area relevant to the
project is preferable but not essential. The candidate should also have an excellent
understanding of molecular genetics and immunology, and be familiar with molecular biology
techniques including ELISA, PCR, western blotting, cloning; experience in tissue culture would
be advantageous.
Applicants must also meet Imperial College’s English language requirements – further details
can be found at http://www3.imperial.ac.uk/registry/admissions/pgenglish
For more information please email Dr Vanessa Sancho-Shimizu ([email protected]). To apply please attach your CV, names of two referees and a short
personal statement. The studentship includes a stipend for 3 years plus fees at the rate for
home and EU students. The position is available from 1 September 2015. Overseas students
should be able to demonstrate adequate financial support to cover the difference between the
home/EU fee and the overseas fee.
Short listed candidates will be asked to complete a postgraduate application form.
Deadline: July 24, 2015