Introduction to Exploring the Genomic Effects of PNPLA7 Mutations on Cerebral Palsy through RNA Sequencing

Arnab M -

Hi guys, my name is Arnab Misra and welcome to my blog about my senior research project: Exploring the Genomic Effects of PNPLA7 Mutations on Cerebral Palsy through RNA Sequencing.

Genetic disorders have long plagued our society since the beginning of human existence. However, in the last decade,  rapid developments in the fields of genomics, bioinformatics, and medicine have revolutionized the approaches to gathering and analyzing genetic data to aid in the diagnosis and treatment of genetic disorders. Cerebral palsy (CP) is one of the most prevalent rare pediatric neurological movement disorders attributed to genetic anomalies and it affects millions of young children’s lives.

I’m honored to join the incredible Bioinformatics Research team at the University of Arizona College of Medicine in Dr. Michael Kruer’s Lab where I will be analyzing a new gene of interest the Kruer lab has identified: PNPLA7. Through bioinformatics analysis of RNA-Seq data, I aim to understand if mutations in the PNPLA7 gene cause changes in gene expression levels associated with CP.

I aim to answer: What molecular pathways are affected by mutations in PNPLA7? And are there existing medications and treatments that could have a positive effect on patients with mutations in PNPLA7? 

I aspire to learn from some of the best professionals in the field at the Phoenix Children’s Hospital and the University of Arizona College of Medicine on how to use bioinformatics to contribute to medicine. My project will focus on researching PNPLA7 through RNA sequencing and I look forward to working in a lab with a heavy emphasis on research and gaining experience in this cutting-edge field of medicine.

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