Professor Fernando Scaglia
Newborn metabolic screening programme
In collaboration with Departments of Obstetrics and Gynaecology and Chemical Pathology, our Department established Center of Inborn Errors of Metabolism and the first-ever, self-financed expanded newborn metabolic screening programme covering for over 30 inborn errors of metabolism (IEM) disorders in Hong Kong in 2013. For more information, please refer to http://www.obg.cuhk.edu.hk/fetal-medicine/fetal-medicine_services/iem/
Clinical genetics clinics
The Joint Baylor College and CUHK Center of Medical Genetics was established in March 2018. Our center receives consultation from local and overseas for diagnosis and management of clinical genetics disorders and research collaboration. We have clinical genetics clinic, genetic metabolic clinic, and also adult genetics service.
Revealing molecular diagnosis of undiagnosed diseases
Genetics and pathophysiology of IEM disorders and neuro-metabolic disorders
Metabolomic study of citrin deficiency