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Applied Genome Analysis in Rare Disease Diagnostics
The talk will feature an introduction in genomics, high-level overview of how genomics tools are utilized in disease diagnostics focusing on rare paediatric genetic disorders and will also include real-life examples where precision health led to improved health outcomes for patients and families affected with rare diseases.
12:00-12:10 Welcome
12:10-12:35 Presentation
12:35-12:55 Q&A
12:55-1:00 Closing
SPEAKER : Bhavi Modi, Ph.D. (she/her)
Bhavi Modi is a Human Geneticist, currently working as a postdoctoral research scientist at BC Children’s Hospital Research Institute in Vancouver, BC, Canada.
Originally from Mumbai, India where she completed her BS and MS in Biotechnology, she moved to the USA to pursue her Ph.D. in Human Genetics from Virginia Commonwealth University. She has over 8 years of research experience in the application of genomic tools towards understanding a diverse range of human genetic disorders including female reproductive disorders, pregnancy complications and rare pediatric disorders, she is passionate about bringing genomic technologies into a clinical standard-of-care. Her current role as a genome analyst focuses on the diagnosis of rare genetic disorders in the pediatric population at BC Children’s Hospital.
She has previously served on the SCWIST (Society for Canadian Women in Science & Technology) board as the Director for Immigrating Women in STEM (IWIS) and is a strong advocate of making STEM equitable for women. She is also a budding entrepreneur and has recently launched her new e-commerce start-up to stay connected to her family’s business roots. Outside of work, she enjoys reading, sketching and building elaborate puzzles.