A Rare Collection – Unexpected Findings
ONCE UPON A GENE – EPISODE 126
A Rare Collection – Unexpected Findings
There’s power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.
EPISODE HIGHLIGHTS
Katheron Intson
Katheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected findings resulted in advances for GRIN1 patients. Her experience helped develop a skillset which helped in the development of an app that helps users discover what treatments are helpful according to other user’s data. Variant’s goal is to connect families with better medication and to be a liaison between pharma and rare disease patients by proving the benefit from the development of new medicines and cures.
Caitlin Nichols
Caitlin studied cancer biology in graduate school and investigated a potential strategy to treat cancer for her thesis. One of the challenges of chemotherapy is that it kills cancer cells, but also damages other tissue which leads to patient side effects. The ideal cancer treatment would target tumor cells specifically, leaving the rest of the body unaffected. Caitlin spent weeks preparing in the lab before testing an experiment. Despite ideal, expected data resulting from the experiment, there were some unexpected findings that came from her personal reflections.
Kim Aldinger
As a scientist, Kim appreciates unexpected results. As a parent of twins with special needs, unexpected findings have been devastating. Kim’s twins were born early at 33 weeks and 3 days. Most premature babies have a lazy eye that can be easily treated. But when Kim’s daughter was 8 months old, she underwent a series of tests that revealed her daughter was expected to be blind- an unexpected finding that changed her life.
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