Research Projects
Genetics of Congenital Disorders

Congenital anomalies are often debilitating and are recognised as the leading causes of infant hospitalisation and mortality worldwide. Many of the congenital disorders have complex genetic aetiology and are caused by more than one genetic factor affecting the normal development of the fetuses. Both common and rare genetic variations contribute to the genetic basis of complex diseases. Common regulatory genetic variants may increase disease risk through modulating regulation of gene expression whereas rare coding genetic variants may have high penetrance for phenotypic expression by altering protein structure and function. 

Our research team focuses on elucidating the genetic landscape of both common and rare genetic variations of complex congenital diseases, including Hirschsprung disease, biliary atresia and other gastrointestinal and neurological paediatric diseases. Through integrating findings from genome-wide association, next generation sequencing studies and multi-omics data, we aim to decipher the underlying genetic architecture of these complex congenital disorders to further our understanding of the disease mechanisms. We currently have several multi-omics (genomics and transcriptomics) next generation sequencing projects that are in collaboration with the experimental and clinical partners. The outcomes of these projects will not only further our knowledge of the major biological pathways being disrupted in patients, but will also have direct translational impact, potentially providing new targets for developing alternative therapies. In the era of personalised medicine, understanding the underlying genetic defect(s) is essential for accurate disease risk prediction and genetic counselling for family at-risk. 

We are seeking candidates with strong interest in the fields of human genetics, genomics and molecular biology. Experience in computer programming will be an advantage. More information on these projects can be obtained by emailing the supervisor.

Professor CSM Tang, Department of Surgery

Professor Clara Sze-Man Tang obtained her PhD in statistical genetics from the University of Hong Kong in 2010 and received her postdoctoral training in asthma genetics and bioinformatics at the QIMR Berghofer Medical Research Institute, previously known as Queensland Institute of Medical Research (QIMR). She joined the Department of Surgery in 2013 and becomes Assistant Professor since 2020. Her research interest is on elucidating the genetic basis of complex diseases, including cardiovascular diseases and congenital disorders, such as Hirschsprung disease (HSCR) and congenital heart diseases. She has published more than 50 journal articles including Nature Genetics, Nature Communications, Gastroenterology and PLoS Genetics.

Biography
claratang@hku.hk

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 rpgmed@hku.hk.

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.