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The Genetic Basis of Congenital Hypothyroidism (360G-Wellcome-100585_Z_12_A)

I have already identified 2 novel genetic causal variants for congenital hypothyroidism (CH) by whole exome sequencing (WES); IGSF1 defects in central hypothyroidism and SLC26A7 in dyshormonogenetic CH. I will therefore continue this strategy to identify further genetic causes of CH. I will expand my CH cohort, enriched for probability of genetic mutations. After excluding candidate gene defects, cases will undergo WES. I will then undertake functional characterization of specific novel variant s using in vitro techniques and a zebrafish model of thyroid development. Human SLC26A7 mutations are a novel cause of dyshormonogenetic CH and the disorder or its pathogenesis has not been characterized; I will phenotype cases to define this syndrome in more detail. I will characterize the biological function of SLC26A7 (a key transport protein), by performing electrophysiological studies to define its role as a putative anion transporter in the thyroid. Structure-function relationships in S LC26A7 are poorly understood. I will therefore characterize the properties of naturally-occurring and artificial SLC26A7 mutants to define functional domains in this protein.


30 Sep 2018

Grant details
Amount Awarded 214297
Applicant Surname Schoenmakers
Approval Committee Internal Decision Panel
Award Date 2018-09-30T00:00:00+00:00
Financial Year 2017/18
Grant Programme: Title Intermediate Clinical Fellowship
Internal ID 100585/Z/12/A
Lead Applicant Dr Nadia Schoenmakers
Planned Dates: End Date 2019-10-31T00:00:00+00:00
Planned Dates: Start Date 2018-05-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region East of England
additional_data_added True
id_and_name ["University of Cambridge", "360G-Wellcome-ORG:University-of-Cambridge"]
Additional data added by GrantNav