Biochemical Genetics in Functional Diagnosis and
Monitoring of Inborn Errors of Metabolism
The IFCC Task Force Young Scientists held its ninth educational webinar for scientists and laboratorians, brought to you by the IFCC Task Force Young Scientists. This educational program focused on the biochemical genetics in diagnosis and monitoring of inborn errors of metabolism.
Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step. For the majority of IEM, early diagnosis prevents the onset of severe clinical symptoms, thus reducing morbidity and mortality. This webinar helped us to understand better the different lab diagnostic approaches and latest techniques available.
Khosrow Adeli PhD, FCACB, DABCC
Head and Professor, Clinical Biochemistry, Paediatric Laboratory Medicine
Senior Scientist, Molecular Medicine, Research Institute
The Hospital for Sick Children/University of Toronto, Canada
Dr. Pradeep K. Dabla, Professor, MD
Dept of Biochemistry,
G.B.Pant Institute of Postgraduate Medical Education & Research (GIPMER)
Associated to MAMC, Delhi, India
Brought to you by IFCC TFYS/IFCC Task Force Young Scientists
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