Associate Professor Harvard University Harvard Medical School
Advances in neurogenetics reveal an increasingly visible category of unmet need: precisely diagnosed patients with severely debilitating or life-threatening genetic conditions for which no treatments exist. Powerful new tools for genetic targeting allow us to help these patients – but these tools typically require action at the level of an individual gene or even an individual mutation. This creates stresses on an ecosystem that has been historically organized around developing drugs for large marketable indications. Novel collaborative models and regulatory pioneering will be necessary to address the gaps. We will review experiences in the 5 years since the development of Milasen, a patient-specific antisense oligonucleotide for a child with CLN7 Batten disease (a progressive and fatal neurodegenerative condition), sharing additional case examples of “interventional neurogenetics” and surveying the scientific, ethical, and regulatory landscape for future exploration of individualized genomic medicine.
