My research aims to find out the role of HNRNPU in neuronal development and understand how pathological variants in this region lead to neurodevelopmental disorders.
I am a doctoral student in Karolinska Institute - National Institutes of Health (KI-NIH) Collaborative Doctoral Programme in Neuroscience. At KI, I am a part of Tammimies group, Center of Neurodevelopmental Disorders at Karolinska Institute (KIND), Department of Women's and Children's Health.
I obtained my Master of Science in Biomedical technology specialising in molecular biology in Tampere University, Finland. Before that I received a Bachelor of Science in Biotechnology in the same university.
There are several hundreds of genes connected to neurodevelopmental disorders. However, it is still widely unknown how variants in most of them affect neuronal development. One of these genes is heterogenous nuclear ribonucleoprotein U (HNRNPU). More than 80 children have been reported with pathological HNRNPU variants and the common phenotypes among these individuals include global developmental delay, intellectual disability, and early-onset epilepsy with or without fever induced seizures.
My PhD project is aiming to discover how HNRNPU regulates neuronal development and which processes are altered in HNRNPU-haploinsufficiency. Deeper knowledge of the molecular mechanisms helps to improve tools used in monitoring and diagnosis. Eventually, it is necessary to understand the altered pathways to discover possible treatment and even intervention options.
As a research assistant (2018-2020) in the Eye Group led by prof. Heli Skottman in Tampere University, I was working with retinal pigment epithelial (RPE) and limbal epithelial stem cells. These projects aimed to develop human stem cell-based tools for retinal and corneal regeneration.
Research / Laboratory Training:
Sanna Lejerkrans (BSc Student, Karolinska Institutet, Sweden), Spring 2021
PhD Medical Science – KI-NIH Collaborative Doctoral Programme in Neuroscience (2020 – Present)
MSc Biomedical Technology – Department of Medicine and Health Technology, Tampere University (2018 – 2020)
BSc Biotechnology – Department of Medicine and Health Technology, Tampere University (2015 – 2018)