top of page

Genetics and Genomics

Team Head

Team Member

  • Professor SCAGLIA Fernando (Clinical Geneticist from Baylor College of Medicine)

  • Ms MAN Diana (Nurse Counsellor)

Clinical Services

  • With the establishment of The Chinese University of Hong Kong Baylor College of Medicine Joint Center of Medical Genetics in March 2018, our center receives consultation from local and overseas for diagnosis and management of clinical genetics disorders and research collaboration.

  • Our scope of outpatient clinical service covers clinical genetics, genetic metabolic, neurogenetics and also adult genetics.

  • We also provide inpatient paediatrics genetic consultations.

Multidisciplinary care team

Educational activities

  • The Joint Baylor College and CUHK Center of Medical Genetics creates a platform for professional training in clinical genetics, expert services for genetic disorders, and collaborative research with the application of cutting-edge genetic and genomic technology

  • Baylor College Clinical Geneticist experts will visit PWH for consultations and teaching. Due to COVID-19, online format of case review meeting and teaching are in progress.

  • In Aug 2020, our centre was accredited as a training centre for subspeciality of Genetics and Genomics (Paediatrics) Subspeciality Training and Clinical Service.

Research opportunities

  • Revealing molecular diagnosis of undiagnosed diseases by whole genome sequencing

  • Genetics and pathophysiology of IEM disorders and neuro-metabolic disorders

  • Metabolomic study of citrin deficiency

bottom of page