Truly Personalized Medicines for Ultra-Rare Diseases: New Opportunities in Genomic Medicine

Over 30 million patients in the United States live with a rare disease. Genome sequencing is revolutionizing their diagnosis, but 95% still lack effective therapy. With over 7,000 conditions to tackle, new and creative frameworks will be necessary to address this gap. Julia and Tim will present the recent case of a six year old girl who suffered the sudden onset of vision loss, seizures, and neurologic regression after several years of more insidious symptoms. After an extended diagnostic odyssey, her medical team arrived at a diagnosis of CLN7 Batten disease, a rare neurodegenerative disorder of lysosomal storage. No treatments exist for CLN7 Batten disease, and unchecked, it is rapidly progressive and ultimately fatal. We will describe how arriving at a precise molecular diagnosis prompted a collaborative effort to design, test, and deploy a novel, custom-made antisense oligonucleotide drug to try to save her. Implications of this work for other patients and the further development of individualized genomic medicine will be discussed.

Dialogue with Julia and Timothy moderated by Art Krieg, M.D.