Tim had the opportunity to tell Mila’s story with her mother Julia at the GoldLab Symposium in her home town of Boulder, Colorado.
Thank you to the American Academy of Neurology for giving us a platform to share our research.
Our lab has a special interest in rare diseases. There are 350 million people living with rare diseases worldwide, 30 million of them in the US alone. Of these 30 million people, over 2 million are affected with fatal neurologic genetic condition and half of them are children. While many rare or orphan diseases are currently lacking treatment options, we are working towards a future where streamlined treatment modalities can be customized to work for a greater number of these children. Motivated by our Batten trial, we are currently pursuing treatments for subsets of patients with other rare diseases including ataxia telangiectasia.
Tim had the opportunity to share Mila’s story with her mother Julia at the Broad Institute’s Rare Disease Day Symposium — Focus on Rare Disease: Decoding genomes, unlocking therapies.
Tim tells the story of Mila, a young girl with a rare, fatal, neurodegenerative condition called Batten disease, for whom the Yu Lab developed an experimental ASO therapy personalized to her specific genetic variant.
This presentation recounts the aggressive timeline from ASO development to clinical trial implementation, the challenges present for both researchers and families integrated in the rare disease community, and what these advances might mean for personalized medicine in the future.
We had a great time at the American Society of Human Genetics meeting in Tim’s Home Town of San Diego.
Later that evening, Tim had the opportunity to present our work on a patient-customized oligo for therapy in an ultra-rare genetic disease for the first time during the Late Breaking Abstract Plenary Session. We are truly overwhelmed by the response that it has received!