Summary of the talk
The need to understand inborn errors of metabolism (IEM) has never been stronger than today.These metabolic disorders are inherited, and individually rare, but are numerous and therefore, collectively not uncommon. They have been treated as unimportant since they are rare. On the contrary,their importance lies in the fact that they can be prevented, at least from recurring in a family, and more importantly that many of the marenowtreatable,with a possibility of acure in the foreseeable future!
The easy availability of genetic testing via sequencing of genes using Sanger sequencing or Next Generation Sequencing (NGS) are now benefiting many a patient in making an accurate diagnosis. This is crucial and is of utmost importance for timely treatment and a better prognosis.
In this two-part lecture,you will be learning about some of the common metabolic disorders with following objectives:
1. Creating awareness about IEM
2. Identification of patients in daily practice, both acute and chronic presentations
3. Diagnostic approaches and algorithms,using real cases scenarios.
4. Using NGS for diagnosing and confirming IEM patients.
In the second lecture,those disorders would be discussed which are not diagnosable by routinely available tests and require specialised testing such as NGS.You will learn what kind of NGS tests to apply in each situations and the benefits and limitations of the same.This will be done using case presentations and discussion to provide a better understanding of IEM
So join us for this two part lecture on the Inborn Errors of Metabolism