Margot A. Cousin, Ph.D.

The purpose of this study is to improve our understanding of rare and genetic diseases by better understanding their underlying biological and genetic mechanisms, characterizing clinical phenotypes and disease progression, identifying relevant biomarkers, and informing the development of potential therapeutic strategies. Through comprehensive clinical and molecular data collection and evaluation, the study aims to advance knowledge of rare and genetic diseases to support future translational research.

The purpose of this study is to identify patients with rare genetic disorders that may potentially benefit from an ASO therapeutic based on the characteristics of their genetic disease and the causative genetic alterations and seek the research and development opportunities to have them developed, to have the safety and toxicity studies performed with the ultimate goal of treating the individual in a future N of 1 clinical trial.