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Dear Colleagues,

Please see the next Medical Genetics Grand Rounds scheduled talk below:

• Medical Genetics Grand Rounds
• November 14^th 2024,听12:00 to 13:00
• Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
• Speaker: Alban Ziegler, MD, PhD,听Medical Geneticist University Hospital of Toulouse, France

Abstract:
Opportunities and challenges of bespoke antisense oligonucleotide therapy. Nano-rare diseases affecting less than 30 patients worldwide are not financially viable in traditional drug development programs even though these diseases collectively affect millions of people. Meeting the needs of these affected individuals requires innovative solutions to address a wide range of challenges including but not limited to pre-clinical drug development, clinical outcome measures, manufacturing, and funding. Antisense oligonucleotide (ASO) therapies are one approach to delivering targeted therapies for ultra-rare diseases. By presenting our experience of treating an individual with KIF1A associated neurological disorder, we will review the opportunities and challenges of this type of treatment.

Biosketch:
Alban Ziegler MD, PhD. I was trained as a medical geneticist in France (University Hospital of Angers) with a focus on the use of next generation sequencing to identify candidate genes for nano-rare disorders (e.g LMBRD2, IPO8 or DOHH). From September 2021 to September 2023, I worked in the team of Professor Wendy Chung of Columbia University to launch the GUARDIAN study, a large-scale genome-based newborn screening pilot project aimed at recruiting 100,000 newborns in New York (). I also set up an n-of-1 trial for a bespoke antisense oligonucleotide treatment for a young girl with KIF1A associated neurological disorder. I'm now based in the University Hospital of Toulouse (France) where I'm building a team dedicated to the implementation of n-of-1 trials in nano-rare diseases.

Please use the following Microsoft Teams link to join the talk: