Reflection on “The Genetic Basis of Neurodevelopmental Disorders”

By WONG Wai Ho Daniel, St Bonaventure College & High School

The lecture of ‘The Genetic Basis of Neurodevelopmental Disorders (NDDs)’ was extremely interesting. Dr Zhu first gave the definition of what NDDs was, their types and how prevalent they were in different age group, gender, population, etc. Then, the cause of NDDs were discussed which were a combination of genetic and environmental factors that could be represented by P=G+E+(GXE), and I was astonished at how high the heritability % was among different NDDs. Besides, he explained how genetic factors could cause NDDs by letting us know the structure of the human brain, neuron connection, synapse and circuit, and how mutations could disrupt essential genes for brain function.

Afterward, different types of genetic variations were discussed, including point mutations and structural variations. Additionally, Dr. Zhu explained different sources of the genetic variations, which were genetic variations by transmission as well as De Novo and Somatic, and I was surprised to realize that mutations could occur in the egg/ sperm cells or during the embryo development (not in parents).

What’s more, I’ve learnt two models linking genetic variations to traits, namely Major Gene Model and Polygenic Model, and the models were also used to illustrate the genetic architecture of ASD. Furthermore, my previous misconception was corrected by learning that most genetic risk for autism actually resided with common variations and there were in fact a number of ASD-associated genetic variants enriched in brain development pathways.

In addition, Dr Zhu talked about his research work at CityU relating to mobile-element insertion with a focus on accurately detecting somatic MEIs by using Artificial Intelligence. I find it really great and meaningful as it will help improve the understanding of the genetic basis of neuropsychiatric disorders, which will shed light on novel treatment approaches.

Moreover, Next Generation Sequencing (NGS) was taught which allowed analysis of the genotypes done within a very short time period and at low-cost. Dr Zhu also showed us the application of genetic knowledge to personalized psychiatry and highlighted that early diagnosis and early intensive treatment had the potential to affect the outcome, and precision therapy was more effective than conventional therapy. Besides, the knowledge could be applied to fight stigma, all of which inspires me to continue my learning after the lecture.

Overall, I like this lecture very much. It was very useful and I would like to recommend it to all secondary school students with an interest on genetics and NDDs.