Natalie Chaddock

Natalie is a Postdoctoral Research Associate in Genomic Bioinformatics under the supervision of Prof. Sid Banka. Her research is funded by the BRC and focuses on “Improving Pipelines for Genomic Reanalysis of Rare Conditions/Identifying Epivariants in Rare Conditions Cases” by investigating two key areas:

(1) Enhancing bioinformatic and logistical pipelines for the genomic reanalysis of undiagnosed rare disease cases, including optimizing data reanalysis approaches and improving patient referral data management.

(2) Identifying disease-causing epivariants, particularly methylation alterations that impact gene expression, by defining “healthy” methylation ranges using long-read sequencing to detect pathogenic deviations in rare disease cases.