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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.

£214,297

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
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