Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Mandy Johnstone Research Group (Affiliate)

Clinical and molecular mechanisms underlying schizophrenia and affective disorders

Section: Medical Genetics

Dr Mandy Johnstone - Wellcome Trust Clinical Research Fellow

Research in a Nutshell

Our research focus is to better understand the molecular pathophysiology of neuropsychiatric disorders so that we can develop more effective therapies in future. We are investigating the consequences of rare copy number variants (CNVs) associated with neurodevelopmental disorders, including schizophrenia, autism and intellectual disability (ID) using human induced pluripotent stem cells (hiPSCs) as in vitro models. Schizophrenia and other neurodevelopmental disorders such as autism and ID are common conditions whose underlying causes are imperfectly understood. They are known to run in families and some genetic risk factors, including those affecting DLG2 and the so called DISC1 and NDE1 locus, are sufficient to increase risk of major mental illness in those individuals who carry them. It is also known that abnormalities of brain structure and function are closely linked to these genetic factors. The cellular mechanism underlying these abnormalities and clinical disorders are however still unclear, largely because the human brain is inaccessible. However, it has recently become possible to study brain cells in a dish in the laboratory by reprogramming skin cells (fibroblasts) to become pluripotent stem cells which can then be converted into neural progenitors and brain cells (neurons and other neural cell-types). Through comparative studies of cellular morphology, neuronal progenitor proliferation and migration, gene expression and synaptic function we aim to gain a greater understanding of the underlying mechanisms of these disorders.


Mandy Johnstone group


Dr Mandy Johnstone Wellcome Trust Clinical Research Fellow, Principal Investigator
Panos Giannopolous PsySTAR Clinical PhD Student
Rana Fetit Masters Student
Edward Christopher Dr Hawden Trust Summer Student