SickKids Research Institute
Johanna Rommens, PhD is a member of the Genetics and Genome Biology Program at The Hospital for Sick Children in Toronto.
Dr Rommens has extensive experience in genetic disease gene identification, genome analysis, and gene expression. Causal gene identification enables early diagnosis, but realization of improved treatment strategies are frequently challenged by i) variation and range in encoded protein deficiencies due to different causal alleles, ii) limited understanding of natural history of disease pathology and complications brought on by multi-organ involvement and, iii) additional variation in presentation due to genetic modifiers or environmental factors. Current research interests include diseases with exocrine pancreatic dysfunction, including cystic fibrosis and Shwachman-Diamond syndrome.
Dr Rommens is a member of the CFTR2 team (https://cftr2.org) that seeks to understand variation in the CFTR gene and to assign liability for variants that lead to cystic fibrosis.
Friday, September 27, 2024
2:30 PM – 4:30 PM ET