Searchable abstracts of presentations at key conferences in endocrinology

ea0051p024 | Miscellaneous/other | BSPED2017

Using CRISPR/Cas9 gene editing to study molecular mechanisms of congenital hyperinsulinism

Purushothaman Preetha , Aldossary Ahmad , Hart Stephen , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. Autosomal recessive mutations in HADH gene are a rare cause of CHI. The advances in CRISPR/Cas9 gene editing technology has enabled the i...

ea0058p029 | Miscellaneous Endocrinology | BSPED2018

Using CRISPR/Cas9gene editing to study the molecular genetics of congenital hyperinsulinism

Purushothaman Preetha , Aldossary Ahmad , Guerrini Ileana , Hart Stephen , Hussain Khalid

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition.Aims: The aim is to use the novel CRISPR/Cas9 gene editing technique to create a KO...