Keynote Speaker, Dr. Timothy Yu

Quick Overview

Dr. Timothy Yu, a neurologist and researcher, shared the story of developing a personalized drug called Milasen for a young girl with Batten disease. The drug, an antisense oligonucleotide (ASO), was designed to correct a specific genetic mutation in the patient’s cells. The development process, from diagnosis to treatment, took less than a year and showed promising results in halting disease progression. Dr. Yu emphasized the potential of ASOs for personalized medicine and expressed optimism for their use in treating other rare neurodevelopmental disorders, including Angelman syndrome. He also announced his involvement in a project to develop an ASO treatment for Angelman syndrome.

Introduction

Dr. Timothy Yu, a neurologist and researcher from Boston Children’s Hospital, was the keynote speaker at the 2018 FAST Science Summit. In his speech, Dr. Yu shared the story of a groundbreaking clinical trial he led, which involved the development of a personalized medicine for a young girl with Batten disease. He also discussed the potential of antisense oligonucleotide (ASO) therapies in treating rare neurodevelopmental disorders like Angelman Syndrome.

The Story of Mila

Dr. Yu began his speech by introducing Mila, an eight-year-old girl from Colorado who was diagnosed with CLN7 Batten disease. This ultra-rare disease causes vision loss, seizures, motor decline, and premature death. Mila’s family, determined to find a treatment for their daughter, launched their own foundation and reached out to Dr. Yu for help.

Developing a Personalized Medicine

Dr. Yu and his team used whole genome sequencing to identify the specific genetic mutation causing Mila’s disease. They discovered an insertion of a mobile DNA element in the CLN7 gene, which disrupted the gene’s assembly and function. Building on the success of a similar drug called nusinersen, Dr. Yu and his team designed an antisense oligonucleotide (ASO) to block the abnormal splicing and restore normal gene function.

The Clinical Trial

After conducting extensive laboratory experiments, Dr. Yu’s team successfully developed the ASO drug, which they named Milasen after the young girl. They then launched a clinical trial to test the drug’s safety and efficacy. The trial involved intrathecal injections of Milasen into Mila’s spinal cord, with careful monitoring of her neurologic function and disease progression.

Promising Results

Dr. Yu reported that the trial has been well-tolerated by Mila, with no drug-associated adverse effects to date. While it is still early in the trial, Dr. Yu noted some promising signs of improvement. Mila’s seizures, which were previously intense and frequent, have become less frequent and shorter in duration. Additionally, her overall disease progression seems to have arrested since starting the treatment.

Implications for Angelman Syndrome

Dr. Yu concluded his speech by expressing his excitement to join the Angelman Syndrome community and work towards developing a personalized medicine for the disorder. He highlighted the potential of ASO therapies, like the one being developed by Scott and Art Beaudet, to reactivate the paternal UBE3A gene and treat Angelman Syndrome. Dr. Yu emphasized the importance of collaboration between researchers, hospitals, patient foundations, industry, and the FDA in advancing these treatments.

Conclusion

Dr. Timothy Yu’s keynote speech at the 2018 FAST Science Summit highlighted the groundbreaking work he and his team have done in developing personalized medicine for rare neurodevelopmental disorders. The success of the clinical trial involving Mila has opened up new possibilities for treating diseases like Batten disease and Angelman Syndrome. Dr. Yu’s speech served as an inspiration to the Angelman Syndrome community and emphasized the importance of collaboration and innovation in advancing medical treatments.