Research Projects
Whole Exome Sequencing in Paediatric Rare Diseases

Programme(s) to which this project applies:

☒ MPhil/PhD ☑ MRes[Med] ☒ URIS
About the Project

Objective and Significance:

Whole exome sequencing (WES) is a new technology that sequences all the protein coding region of the human genome, which is thought to harbor more than 85% of known disease causing mutations. With the rapidly declining cost of the technology, it is now more affordable and suitable for clinical use as well as research. WES has the potential to transform genetic diagnostic services for families with rare inherited disease, and will soon become the tool of choice for diagnosis.

The objective of this research topic is to analyze whole exome sequencing data of paediatric rare diseases, in order to find pathogenic genetic variants correlating with the clinical manifestation. This will require knowledge about the technology, clinical genetics, computer skills, laboratory skills, and understanding of the pathophysiology. The expertise obtained from this research will not only be specific to whole exome sequencing. The student will take a clinical approach to the problem, requiring the ability to search relevant medical and genetic databases on the relevant mutations, and compare the clinical presentation of published literature to the patients studied. The participant will also develop an advanced understanding of clinical genetics in the process, and observe the involvement of the geneticist and genetic counselor in the clinic. In addition, there will be basic laboratory skills learnt, such as traditional Sanger sequencing.

About the Supervisor

Dr BHY Chung, Department of Paediatrics and Adolescent Medicine


Next Step?

For more information or to express interest for this project, please email the supervisor or the specified contact point in the project description.  Interested candidates are advised to enclose with your email:

  1. your CV,
  2. a brief description of your research interest and experience, and
  3. two reference letters (not required for HKUMed UG students seeking MRes[Med]/URIS projects).

Information on the research programme, funding support and admission documentations could be referenced online at the Research Postgraduate Admissions website. General admission enquiries should be directed to

HKUMed MBBS students interested in the Master of Research in Medicine (MRes[Med]) programme may visit the programme website for more information.  

HKUMed UG students interested in the Undergraduate Research Internship Scheme (URIS) may visit the scheme’s website for more information.