A Research Associate position has become available within the group of Dr Nadia Schoenmakers at the Institute of Metabolic Science (IMS). The Schoenmakers’ group aims to delineate the molecular basis of congenital hypothyroidism (CH), identifying known and novel genetic causes of CH in affected patients using candidate gene and exome/genome sequencing-based approaches. We then investigate the biology associated with particular genetic mutations using in vitro/ex vivo experimental techniques and murine models.
A current priority is to investigate the thyroidal role of SLC26A7, a novel anion transporter with a key role in thyroid hormone biosynthesis in humans and mice, which the group has identified (Cangul et al JCI Insight 2018). Homozygous loss of function mutations in SLC26A7 result in congenital hypothyroidism with impaired thyroid hormone biosynthesis in both humans and mice, but the molecular role of SLC26A7 in the thyroid has not yet been elucidated.
A key component of the successful applicant’s work will be to establish techniques for culturing human and murine primary thyrocytes (including thyroid organoid culture) and to use these cultured cells (initially murine wild type and Slc26a7 null thyrocytes and human thyrocytes with and without Slc26a7 siRNA knockdown) to investigate the molecular function of SLC26A7. In murine extra-thyroidal tissues, SLC26A7 regulates acid-base homeostasis via Cl-/HCO3- exchange, or by functioning as a Cl- channel, therefore the effects of SLC26A7 deficiency on thyrocyte acid-base homeostasis and hormonogenesis will first be investigated in addition to interrogating its subcellular localization and regulation.
Ongoing clinical studies will seek to delineate genetic mutations implicated in congenital hypothyroidism, in both known and novel candidate genes. To this end, the Schoenmakers group maintains strong collaborative links with Great Ormond Street Hospital, London, recruiting cases from weekly congenital hypothyroidism clinics, for targeted and whole exome genetic analyses. Complementary laboratory studies in both thyrocytes and heterologous cells, will be used to functionally characterize specific genetic variants and to explore the biology associated with novel CH-associated genes.
We are keen to identify a researcher with a PhD within a relevant field and a broad range of relevant expertise in cell and molecular biology techniques (experience in genomic sequencing, recombinant DNA techniques, western blotting, qPCR and primary cell culture are essential for this role) as well as relevant data analysis skills.
Experience of working with mice is desirable but not essential; a successful applicant would be supported in obtaining a Home Office personal licence for relevant animal work if necessary. You must be highly motivated, able to work independently and have excellent organisational and interpersonal skills.
In addition to performing experimental work you will present research work and data within the Institute, nationally and internationally and prepare and submit research for publication in peer-reviewed journals. You will also assist in providing technical instruction to graduate students and other members of the research group.
This position is based at the Wellcome Trust-MRC Institute of Metabolic Science (https://www.ims.cam.ac.uk/) at the University of Cambridge, which provides a highly collaborative and stimulating environment. Informal inquiries about this position should be directed to Nadia Schoenmakers at firstname.lastname@example.org with reference number RG25627 in the subject line.
Fixed-term: The funds for this post are available for 2 years in the first instance.
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Closing Date: 10th March 2021.
Please quote reference RG25657 on your application and in any correspondence about this vacancy.
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