UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


NIHR GOSH BRC PhD Studentship - Genetics & Genomic Medicine

Supervisor: Dr Sergi Castellano

Discovery and interpretation of human genomic variation contributing to micronutrient deficiency disorders

A 3-year PhD Studentship funded by the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC) is available within the Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health.

We are seeking a PhD student to work in a genomic medicine project in Dr. Castellano’s group using population approaches. The aim of the project is to understand the genetic architecture of micronutrient deficiencies. That is, to characterize the number, age and type of genetic variants, their population frequencies and the magnitude of their contribution to the risk of micronutrient deficiency or toxicity in humans today. Such deficiencies have been pervasive in human history and may have resulted in old and common genetic variants contributing to disease risk today.

We will focus on selenium and iodine taking advantage of populations known to be deficient, adequate and toxic for one or a combination of these micronutrients. By associating the genetic variation of human populations with the soil selenium and iodine levels of the environments they inhabit, we will elucidate the genetic variants that were and are important to regulate the metabolism of these micronutrients. Such catalog of genetic variants will allow us to interpret not only the genome sequences of populations living today under extreme levels of selenium and iodine in their diets, but to interpret the genomes of individuals with deficiency disorders of a genetic origin that live in populations with no known dietary inadequacies.

We are seeking a creative and highly motivated individual with prime interest in genomics. Candidates should have studies in bioinformatics, computational or evolutionary biology, statistics or related genomic disciplines. The ideal candidate will have experience in at least one of the areas above, and a strong interest in the others. Previous work in translational bioinformatics (theoretical or analytical) is a plus. The student will use large-scale genomic datasets and databases, next-generation sequencing data. Programming and quantitative skills will be developed.

Applicants should have, or expect to receive a first class or upper second class degree.  The student will receive a starting stipend of £16,777 per annum (including London weighting) as well as the cost of tuition fees for UK/EU students (applicants from non-EU countries can apply but will have to personally fund the difference between the home/EU rate and the overseas rate), and £5000 contribution towards the running costs of their project.

In 2016, the GOSH BRC secured £37 million funding to support the translation of basic scientific discoveries into ‘first in man’ or ‘first in child’ clinical studies. Our research aims to accelerate discoveries into the basis of childhood rare diseases and to develop new diagnostics, imaging techniques and treatments, including cellular and gene therapies.

UCL is London’s leading multidisciplinary university. In the recent 2014 Research Excellence Framework (REF2014) UCL was rated the top university in the UK for research strength and the best research environment. The Genetics and Genomics Medicine Programme, within the Great Ormond Street Institute of Child Health at UCL, is a lively, stimulating, and highly collaborative place in the forefront of rare disease research. The programme is very international and its genomics section is moving in 2018 to the new and adjacent Zayed Centre for Research into Rare Disease in Children. The successful candidate will also have the opportunity to contribute bioinformatics approaches to UCL Genomics.

How to Apply:

Enquiries regarding the post can be made to Dr. Castellano (s.castellano@ucl.ac.uk) .

Deadline for receipt of applications: 28th November 2018
Interview date: March 2019 (Dates to be confirmed)