Research

3q29 deletion syndrome

The 3q29 deletion is a rare 1.6 Mb deletion on chromosome 3. 3q29 deletion syndrome affects approximately 1 in every 30,000 individuals, and typically arises de novo, meaning the deletion is not inherited from either parent. This deletion is associated with a wide range of physical, neurodevelopmental, and psychiatric health concerns, ranging from reduced birthweight and congenital heart defects to intellectual disability, autism, and schizophrenia.

3q29 duplication syndrome

The 3q29 duplication is the inverse of the 3q29 deletion. It is a rare 1.6 Mb duplication on chromosome 3. The prevalence of the 3q29 duplication in the general population is unknown, with estimates ranging from 1 in 75,000 to 1 in 8,000 individuals. 3q29 duplication syndrome is not well-understood, but existing data suggests that it is associated with physical, neurodevelopmental, and psychiatric phenotypes, including obesity, seizures, and developmental delay.

Knowledge gaps

As we collect more data, we will continue to develop our understanding of the phenotypic spectrum of 3q29 deletion syndrome and 3q29 duplication syndrome. However, the mechanism(s) underlying the diverse phenotypes observed in 3q29 deletion syndrome and 3q29 duplication syndrome are unknown. It is unclear which gene or genes in the 3q29 interval are driving the associated phenotypes, and what cell types are affected. Molecular investigations of the 3q29 interval will shed light on the mechanistic consequences of these genetic changes, and will provide guidance for future therapeutic studies.

My research

My research aims to address some of the knowledge gaps surrounding the 3q29 deletion and duplication. As a member of the Mulle lab, I have access to a wealth of resources to investigate both the clinical and molecular consequences of these genetic changes. My research uses a combination of clinical and registry data, collected from the target cohort of individuals with 3q29 deletion syndrome and 3q29 duplication syndrome to date, a mouse model of the 3q29 deletion, and patient-derived induced pluripotent stem cell models. With this combination of techniques, I can advance our understanding of the mechanisms underlying the 3q29 deletion and duplication, and correlate those mechanisms to clinical phenotypes.