Rare Disease Day


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 and Julia discuss precision medicine for rare diseases from the perspective of a parent and a physician scientist.