Genomics
Digital Therapeutics Pathway
Pankaj Agrawal, MD, MMSC
Associate Professor of Pediatrics
Newborn Medicine and Genetics & Genomics
Boston Children's Hospital and Harvard Medical School
Boston, Massachusetts, United States
Over 30 million patients in the US live with a rare disease; 80% of them have an underlying genetic cause and a majority affect children. Exome/Genome sequencing is helping accelerate the diagnosis of these patients, although many cases remain undiagnosed despite these technologies. The Undiagnosed Disease Network (UDN), The Manton Center for Orphan Disease Research and several other centers are dedicated to helping those patients reach a diagnosis. Sadly, treatment options are nonexistent most of those patients, and the rarity of their conditions leaves many individuals effectively orphaned. New and creative tools and frameworks will be necessary to address these challenges. The approaches may include antisense oligonucleotides (ASO)/siRNAs, gene therapy, and CRISPR-CAS9 based gene editing. The therapeutic promise of ASOs has been seen especially in the CNS with the remarkable success of nusinersen for spinal muscular atrophy (SMA) as well as promising early phase investigations of oligonucleotides for ALS and Huntington’s Disease. We have recently shown that it is possible to effectively deploy a custom-designed ASO in less than a year for an eight-year-old girl with CLN7-related Batten disease, a rare, fatal disorder of neuronal lysosomal storage. Similarly, the recent approval of zolgensma in SMA has shown the potential of gene therapy in the near future. Hundreds of clinical trials are currently ongoing to use gene therapy approach in rare diseases. Lastly, the promise of CRISPR-based therapies where gene editing can fix the defect in the gene itself is rapidly progressing with many ongoing clinical trials.
Presenter: Pankaj Agrawal, MD, MMSC – Boston Children's Hospital and Harvard Medical School
Presenter: Timothy Yu, MD PhD – Boston Children's Hospital
Presenter: Guangping Gao, PhD – UMass Medical School
Presenter: Monkol Lek, PhD – Yale University
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