Developing a method for CDG testing from dried blood spots

Overview

Congenital Disorders of Glycosylation or CDGs are a family of rare inherited diseases that are very difficult to diagnose because clinical symptoms are extremely varied. Biochemical diagnosis is simple, but the most commonly used test is rarely prescribed because doctors often do not know about the existence of the disease.

This project aims to establish a new method of testing that would make automated screening of large numbers of potential patients possible. This would allow much improved diagnostic efficiency, which, given that some subtypes of the disease class are treatable, will improve patient health. The proposal is to develop the test based on dried blood spots (DBS), as opposed to serum. DBS are routinely generated for each new-born, and are therefore commonly available for disease testing, while blood for serum samples is only taken for specific tests that a doctor prescribes. In addition, the project will seek to expand the number of biomarkers for CDG testing in order to improve diagnostic precision.