Emma Weir

(she/her)

Publication

• Date
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Research

Neurodevelopmental disorders are diverse in their presentation and underlying biology. To help us understand and study these conditions we can use genetic cell models, in the form of stem cells derived from patients with disorders which predispose them to conditions such as ADHD, autism spectrum disorders (ASD), schizophrenia and intellectual disability.

These genetic disorders, called copy number variants, arise when areas of a chromosome containing the information for multiple genes are deleted or duplicated. When this occurs in a few specific chromosomal locations, patients often have global developmental delays and increased incidence of neurodevelopmental disorders. I study patients with 1q21.1 duplication, a copy number variant associated with ADHD and ASD, as well as epilepsy, congenital heart defects and other symptoms. Knowing where these disorders arise from in the genome allows us to better study the biological mechanisms underlying such conditions for the patients, and others with idiopathic neurodevelopmental disorders.

In particular, I generate brain organoids from the patient stem cells, which are small spheres containing neurons and other brain cell types which help us model brain development in the lab. As the stem cells are derived from patients, they contain the same genetic background as the person they came from. By looking at molecular and functional changes in the organoids, specifically the myelinating cells (oligodendrocytes), I am trying to determine the role of developmental myelination in neurodevelopmental disorders.

Biography

  2021- Ongoing Thesis

  Cardiff University PhD                                                         

• "Using Patient-Specific Stem Cells to Interrogate The Role of Oligodendrocytes in Neurodevelopmental Disorders"

2016 - 2020 

Newcastle University BSc & MSci                                       

• MSci Project - "Investigating alpha-synuclein, autophagy, and the influence of telomerase activation in a mouse model of Parkinson's disease"
• BSc Project - "Characterisation of autophagy in alpha-synuclein and tau expressing neuroblastoma cells"

Professional memberships

British Neuroscience Association (2021-2023)