Research Projects
Multi-omics study in Paediatric Rare Diseases

Programme(s) to which this project applies:

☑ MPhil/PhD ☑ MRes[Med] ☒ URIS

Objective and Significance:

Whole exome sequencing is being used more routinely for genetic analysis to provide a significant rate of diagnosis which can benefit the rare disease patients. However, a large proportion of exome-negative patients remained genetically undiagnosed. To resolve these, multi-omics analysis that combining whole exome, genome and RNA sequencing will be applied. These multi-omics studies start to play a role in genetic diagnostics by aiding annotation and re-interpretation of variants that potentially affect the gene expression.

The objective of this research topic is to analyze whole exome, genome and RNA 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 DNA and RNA 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.

Professor BHY Chung, Department of Paediatrics and Adolescent Medicine

HKU Scholars Hub
Laboratory Homepage

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.