Suvi Mäkeläinen

Short presentation

My research focuses on canine genetics and comparative genomics, using dogs as a model to study human diseases. My main research interests are the genetic basis of cancer, retinal degeneration, and skeletal dysplasia in dogs. The comparative approach helps identify disease-related genes and pathways that are relevant to both canine and human health, advancing our understanding of genetic disorders and potential therapeutic targets.

Keywords

• comparative genomics
• cancer genomics
• computational biology
• canine genetics
• retinal degeneration
• skeletal dysplasia
• ciliopathy

Biography

I received my PhD in bioinformatics at the Dept. of Animal Biosciences at SLU. My work focused on the genetics of retinal degenerative diseases using whole-genome sequencing and transcriptomics data. In my PhD thesis I established a canine model for Stargardt disease, and showed that dogs homozygous for a mutation in BBsome gene TTC8 develop a syndromic disease similar to human Bardet-Biedl syndrome.

In my post-doc project at Uppsala university, I concentrated on human cancer genomics in a collaboration project between the laboratories of prof. Kerstin Lindlad-Toh (Dept. of Medical Biochemistry and Microbiology, IMBIM) and prof. Karin Forsberg-Nilsson (Dept. of Immunology, Genetics and Pathology, IGP). During the project, I analyzed whole-genome sequencing data from 2,539 human tumors across 33 different cancer types, and combined genomic data with evolutionary constraint score (phyloP) to prioritize functionally important mutations in the non-coding cancer genome, identifying cancer-driving regulatory genetic variants.