ASF Virtualpalooza: Genetics & Therapeutics
Dr. Becky Burdine, a renowned scientist and mother to a child with Angelman syndrome, presents on the genetics of the condition and how it informs therapeutic development. Angelman syndrome is linked to the UBE3A gene on chromosome 15, with severity potentially impacted by the size of the deletion. Symptoms are consistent but severity can vary. Dr. Burdine emphasises the importance of health, communication, behaviour management, caregiver well-being, and community support for those affected. She also discusses the role of genetics in developing better treatments, the importance of clinical trials, and the need for informed participation. She concludes by encouraging the Angelman syndrome community to support and participate in clinical trials to improve treatments and quality of life.
Welcome to the ASF Virtualpalooza presentation on Genetics & Therapeutics. In this talk, Dr. Becky Burdine will provide an overview of the genetics behind Angelman syndrome and discuss the different ways it is caused. She will also explore how genetics can inform the development of better therapeutics for Angelman syndrome.
Speaker and Background
Dr. Becky Burdine is a renowned scientist and a mother to a 14-year-old girl named Sophie who has Angelman syndrome. She is a member of the ASF Board of Directors and the ASF Scientific Advisory Board, as well as the OVID Clinical Trial Steering Committee.
The presentation will cover the following topics:
- Genetics of Angelman syndrome
- Genotype-phenotype correlation
- Understanding Angelman syndrome for beginners
- Question and answer period
- Genetics-informed therapeutics for Angelman syndrome
- General information about clinical trials
Genetics of Angelman Syndrome
- Chromosome 15 is important for Angelman syndrome, as genes are units of information in DNA.
- The UBE3A gene is of particular interest for Angelman syndrome, as it is responsible for adding ubiquitin to proteins and signaling for their degradation.
- In Angelman syndrome, neurons only use UBE3A from the maternal chromosome, while other cells use both maternal and paternal chromosomes.
- Angelman syndrome can be caused by deletions, mutations, uniparental disomy (UPD), and imprinting defects.
- The size of the deletion may impact the severity of Angelman syndrome, but it is not a definitive factor.
- Knowing the size of the deletion is important for confirming the diagnosis.
- Angelman syndrome presents with consistent symptoms such as impaired verbal communication, motor issues, seizures, and a generally pleasant demeanor.
- The severity of Angelman syndrome may vary depending on the specific genetic cause, but it is not always predictable.
- Mosaic forms of Angelman syndrome tend to be less severe, where some cells have UBE3A and some do not.
- Other genes also contribute to an individual’s characteristics, although the loss of UBE3A is responsible for the unique symptoms.
Understanding Angelman Syndrome for Beginners
- Dr. Becky Burdine will share her thoughts on what beginners should focus on in understanding Angelman syndrome.
- Health is the number one priority, including managing seizures and addressing gastrointestinal issues.
- Communication is crucial, and parents should focus on finding effective ways for their child to communicate.
- Behaviors should be addressed to ensure individuals with Angelman syndrome can experience the world and have a good quality of life.
- Parents should prioritize their own health and well-being as caregivers.
- Finding support and community within the Angelman syndrome community is important.
- Parents should not blame themselves for their child’s condition, as it is not caused by anything they did.
- The way we talk about Angelman syndrome matters and can influence how we feel about it.
Genetics-Informed Therapeutics for Angelman Syndrome
- Dr. Becky Burdine will explain how genetics can inform the development of better therapeutics for Angelman syndrome.
- There are ongoing clinical trials for Angelman syndrome, and it is important for individuals to participate in them.
- Clinical trials have different phases, including testing in animal models and testing in humans.
- Outcome measures are used to determine the effectiveness of a therapeutic intervention in clinical trials.
- Placebo-controlled trials are necessary to ensure accurate results and avoid biases.
- Participation in clinical trials can be challenging due to the small size of the Angelman syndrome community and the need for significant changes to be measured.
- It is important to be informed about clinical trials and consult medical providers before participating.
- Resources such as the FDA website, Angelman Clinical Trials website, and clinicaltrials.gov can provide information on clinical trials.
- Following the guidelines and criteria set by clinical trials is crucial for accurate results and progress in research.
The Angelman syndrome community can work together to support and participate in clinical trials, as they are essential for determining the effectiveness of potential therapeutics. By understanding the genetics behind Angelman syndrome, we can pave the way for better treatments and improve the lives of individuals with this condition.
- Title: ASF Virtualpalooza: Genetics & Therapeutics
- Author(s): Rebecca Burdine
- Author(s)’ affiliation: ASF
- Publication date: 2020-08-03
- Collection: 2020 ASF Virtualpalooza