Kit Sing Au, BSc, MPhil, PhD

Biography

Kit Sing “Paul” Au, BSc, MPhil, PhD, is a distinguished geneticist with extensive training in biochemistry, molecular biology, virology, and human genetics. He holds a PhD from Baylor College of Medicine (USA), as well as BSc and MPhil degrees from The Chinese University of Hong Kong. His research focuses on the genetic and molecular mechanisms underlying diseases of the human central nervous system, with a particular emphasis on tuberous sclerosis complex (TSC) and neural tube defects (NTDs).

Dr. Au is internationally recognized for his groundbreaking contributions to the understanding of genetic disorders. He played a pivotal role in mapping TSC1 as a disease-causing gene for tuberous sclerosis complex and has identified disease variants in over 300 TSC patients. His work has also illuminated modifier genes that influence TSC phenotypes. Dr. Au led the study to establish the first genetic links between glucose metabolism genes and NTDs in humans. His recent studies have led to the discovery of damaging genomic variants associated with human NTDs, including a novel risk gene, CRKL, for spina bifida, and the identification of hundreds of de novo and inherited variants linked to the condition.

Beyond his research, Dr. Au is a dedicated mentor, having guided more than 25 clinical fellows (MD and PhD) and more than 30 medical, graduate, and undergraduate students through basic science research projects, many of which have culminated in peer-reviewed publications. He is widely published in high-impact journals including Science, Nature, Scientific Reports, Genetics in Medicine, and Journal of Medical Genetics.