Industrializing Individual Therapies for People with Rare Conditions

28:38
 
공유
 

Manage episode 272983131 series 60790
Player FM과 저희 커뮤니티의 RARECast 콘텐츠는 모두 원 저작자에게 속하며 Player FM이 아닌 작가가 저작권을 갖습니다. 오디오는 해당 서버에서 직접 스트리밍 됩니다. 구독 버튼을 눌러 Player FM에서 업데이트 현황을 확인하세요. 혹은 다른 팟캐스트 앱에서 URL을 불러오세요.

It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital to develop a custom antisense oligonucleotide therapy for the little girl, who had a rare form of the neurodegenerative condition Batten disease. The work to design and deliver an antisense therapy in under a year has excited the rare disease community for the potential of individualized therapy that address the underlying genetic mechanisms of rare diseases. We spoke to Yu about his work, the potential to industrialize the creation and delivery of individualized therapies for rare disease patients, and the challenges that need to be addressed.

315 에피소드