Now Is the Time for Molecular Therapies for Angelman Syndrome
In his talk at the 2021 FAST Science Summit, David Segal discusses why now is the time for molecular therapy for Angelman Syndrome. He explains that molecular therapy focuses on addressing the root cause of the disorder at the DNA and RNA levels, rather than just treating symptoms with drugs. Segal highlights the advancements in cell and gene therapy, with several gene therapies already approved for use. He also discusses the potential of gene editing technologies like CRISPR to modify DNA in living cells. Segal emphasizes that Angelman Syndrome is a good fit for molecular therapy due to the presence of an extra copy of the UBE3A gene that can be activated. He mentions various molecular therapy approaches being explored, including gene therapy, antisense oligonucleotides, and gene editing. Segal acknowledges the high cost of these therapies and the need to make them more affordable. He concludes by praising the efforts of the Angelman Syndrome community and emphasizes the power they have to make a difference in the course of the disease.
In a recent talk at the 2021 FAST Science Summit, David Segal discussed the importance of molecular therapy for Angelman Syndrome. He highlighted why now is the perfect time to focus on this type of treatment and the potential benefits it can bring.
Understanding Molecular Therapy
Segal began by explaining the concept of molecular therapy and how it differs from traditional drug therapy. While drugs are often used to manage symptoms, molecular therapy aims to address the root cause of a genetic disorder. In the case of Angelman Syndrome, which is caused by a DNA deletion or mutation, molecular therapy targets the DNA or RNA levels to correct the genetic problem.
The Rise of Cell and Gene Therapy
Segal emphasized that cell and gene therapy is now a reality. He showcased a chart displaying the gene therapies that have been approved in recent years, highlighting the significant progress made in the field. With over 360 gene therapies in the pipeline, the advancements in this area provide a strong foundation for developing molecular therapies for Angelman Syndrome.
Angelman Syndrome as a Good Fit for Molecular Therapy
Segal discussed why Angelman Syndrome is well-suited for molecular therapy. Despite the challenges posed by the genetic abnormalities associated with the disorder, there are unique features that make it amenable to this type of treatment. For instance, even in cases of deletion, there is still an extra copy of the gene present. By reactivating this silenced copy, it may be possible to address the symptoms of Angelman Syndrome. Additionally, the potential to repair a single gene and alleviate the majority of the disorder’s symptoms sets Angelman Syndrome apart from many other genetic diseases.
Various Approaches to Molecular Therapy
Segal outlined several approaches to molecular therapy for Angelman Syndrome. These include gene therapy, where a functional UBE3A gene is introduced into the cells, and viral-based therapies that deliver UBE3A protein directly to the neurons. Antisense oligonucleotides (ASOs) were also highlighted as a promising option, as they can stop the silencing of the UBE3A gene. Segal emphasized that these therapies are based on the unique genetics of Angelman Syndrome and are being actively pursued by multiple companies.
The Role of the Community
Segal expressed his admiration for the Angelman Syndrome community and the impact it has had on advancing research and therapies. He shared his personal experience of being contacted by concerned parents and clinicians, which led to his involvement in the field. Segal commended the community’s fundraising efforts and the support it provides to researchers and organizations like FAST. He encouraged the community to recognize its power and continue building a strong network to drive progress in the treatment of Angelman Syndrome.
In conclusion, Segal emphasized that now is the time for molecular therapies for Angelman Syndrome. With the advancements in cell and gene therapy, the unique genetics of the disorder, and the support of the community, there is great potential to develop effective treatments. Segal expressed optimism about the future and the possibility of making Angelman Syndrome a manageable condition.
- Title: Now Is the Time for Molecular Therapies for Angelman Syndrome
- Author(s): David Segal
- Author(s)’ affiliation: University of California, Davis
- Publication date: 2022-01-04
- Collection: 2021 FAST Science Summit