My name is Edith Friesema. Since 1994 I’m working in Erasmus MC, first as a PhD student, at the Department of Internal Medicine. Currently I’m an assistant Professor investigating genes involved in Cardiovascular Diseases and also the head of the laboratory of Porphyria Center Rotterdam. I use genetic approaches to find mutations in genes involved in rare metabolic diseases like Familial Hypercholesterolemia, Essential Hypertension and Porphyria. I combine basic research with diagnostics to investigate these metabolic diseases which will in the end result in a better understanding and treatment of our patients.
Field(s) of expertise
I use genetic approaches like Whole Exome Sequencing to search for novel disease-modifying genes but also Sanger Sequencing to find mutations in known candidate genes.
Education and career
In 1994 I started as PhD student in Endocrinology which resulted in 2001 in my thesis with title Thyroid Hormone Transporters. Thereafter I continued as Postdoc in Endocrinology. In this period I identified a specific thyroid hormone transporter (JBC 2003) which was linked to a phenotype of severe X-linked mental retardation (Lancet 2004). Since 2010 I’m an Assistant Professor in Vascular Medicine and since 2016 also head of the Laboratory of Porphyria Center Rotterdam.
For a complete overview please check Pubmed (https://www.ncbi.nlm.nih.gov/pubmed/?term=friesema+ec)
I‘m involved in teaching in the Bachelor of Medicine and Clinical Technology.
I'm currently using genetic approaches to identify novel disease-modifying genes related to Cardiovascular Diseases and also in different forms of Porphyria.