Melody Leong – Epigenetics & Development division

26/04/2024 3:00 pm - 26/04/2024 4:00 pm
Davis Auditorium

WEHI PhD Completion Seminar hosted by Professor Tim Thomas

Melody Leong

PhD Student – Thomas/Voss Laboratory, Epigenetics & Development division – Healthy Development & Ageing Theme, WEHI


Effects of Chromatin Modifier Gene Mutations in Intellectual Disability Disorders


Davis Auditorium

Join via SLIDO enter code #WEHIphdcompletion

Including Q&A session

Followed by refreshments in Tapestry Lounge




Intellectual disability (ID) is a neurodevelopmental condition characterised by limitations in two main areas namely cognitive functioning such as learning, problem solving and judgement as well as adaptive functioning which includes actvities of daily life such as communication and social skills. These limitations cause a person to develop and learn more slowly or differently to a neuro-typical developing individual. ID occurs in 2-3% of newborns resulting in life-long dependence on familial and societal support. Genetics is known to play a major role in ID. Several chromatin modifier genes have been implicated in the pathogenesis of intellectual disability. These genes are involved in processes such as DNA methylation, histone modification, and chromatin remodelling, all of which are essential for proper gene expression and neuronal development. Mutations in these genes can disrupt the expression of genes critical for brain development and function resulting in developmental delays and

cognitive impairment.


Historically, intellectual disability has been deemed as an untreatable condition. In more recent times, it is known that while many crucial developmental processes occur during foetal development, the brain undergoes significant growth and refinement of circuits in the months and years following birth. This allows an period for early intervention to potentially ameliorate any imbalances brought upon by the genetic mutations. Understanding the role of chromatin modifier genes in intellectual disability can provide insights into the molecular mechanisms underlying the disorder and may lead to the development of targeted therapies or interventions in the future.


During her PhD, Melody has investigated the effects of the mutations in Plant Homeodomain Finger Protein 6 (PHF6) gene in the Börjeson–Forssman–Lehmann syndrome (BFLS) mouse model and its association with the brain development. In addition, she generated patient mutation lines for the Arboleda Tham syndrome which is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (KAT6A) gene to further

investigate the molecular mechanisms of the mutations in ID.




All welcome!


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