Highlights from the 2018 Angelman Syndrome Foundation/Dup15q Research Symposium
17 Aug

Highlights from the 2018 Angelman Syndrome Foundation/Dup15q Research Symposium

Attendees Share Highlights from the 2018 Angelman Syndrome Foundation/Dup15q Research Symposium

The most brilliant minds in Angelman and Dup15q syndromes collaborated for two days in Chapel Hill, North Carolina last week, sharing unpublished data and knowledge that is pushing the AS community closer toward treatments and a cure for AS.

As the leading AS research meeting in the world, the ASF/Dup15q Research Symposium left each attendee—ranging from seasoned scientists and AS clinicians to post-docs and graduate students, who are all passionate about AS—inspired and super-charged to further their work in AS.


Several attendees from different backgrounds have shared their key insights from the ASF/Dup15q Research Symposium:

Dr. Steven Siegelbaum
Dr. Steven Siegelbaum
Chair, Department of Neuroscience, Columbia University Medical Center
Grandfather to a 3-year-old boy diagnosed with Angelman syndrome

“As both a neuroscientist…and as a grandfather with a 3 year old grandson with AS, I found the meeting to be extremely informative. It appears that the field is at the cusp of developing both useful small molecule therapeutic approaches to treat some of the symptoms of AS (and Dup15q) and gene therapeutics to correct the underlying loss of Ube3a in AS. Because AS is clearly associated with pleiotropic effects on underlying neural function (e.g. alterations in neural structure, tonic inhibition, axon diameter, ion channel expression) and pleiotropic behavioral changes (cognitive function, sleep, motor development, language), I think it will be important in the future to gain a clearer understanding of the relation between the two. I believe the expanded use of MRI in individuals with AS and Dup15q will be important to correlate alterations in brain structure (including white matter loss) with behavior and with treatments, and to relate findings in humans to results in mouse models.”



Stormy Chamberlin
Dr. Stormy Chamberlain
ASF Scientific Advisory Committee Chair
Associate Professor, Dept. of Genetics and Genome Sciences, UConn Health

“Here are my top three key takeaways from the Symposium:

  1. We have a lot of work going on in clinical space including trying to identify measurable features to be used as outcome measures/biomarkers for upcoming clinical trials. This truly shows how far and quickly the science and understanding of AS is advancing. Attendees even made comments about how many clinicians from many specialities presented, which is great!
  2. I was impressed by the presentations about new, novel ways to modulate RNA that might be helpful for Angelman syndrome—they used approaches that haven’t been thought of before for AS. It was a perfect example of people thinking outside of the box, and how we can apply other learnings to AS to solve issues with Ube3a.
  3. Overall, there was a tremendous amount of resource and information sharing. People are truly coming to this meeting to learn, network and collaborate, and they are sharing work that is yet unpublished—but highly advanced and important to finding treatments and a cure for AS. This includes the sharing of information from the Angelman Syndrome Clinics, which is impressive data. The collaboration was evident in a nearly all presentations, and it is truly amazing. I am so grateful for where we are, and for where we are going!”



Rossella Avagliano Trezza

Rossella Avagliano Trezza
Post-doc in ASF-funded researcher Dr. Ype Elgerma’s lab

“The ASF/Dup15q Research Symposium was a very stimulating experience, it’s amazing to see how the clinical and scientific worlds come together to deepen the knowledge on these disorders and broaden our horizons. As Ben Philpot mentioned in his closing remarks, much progress has been made in the past three to five years and this conference highlighted some of the most interesting findings. Even though I truly believe any contribution to the meeting is instrumental to move our research forward, I think a few key talks made the real difference:  

  • Targeting and eliminating RNA in RNA disorders: RNA editing is transient which in terms of a specific targeting is a great advantage. 
  • Measurable parameters to determine altered morphology in human-induced pluripotent stem cell (iPSC)-derived neurons: As science progresses further, it’s more and more evident the need for biological systems that mimic the human brain. While we are far away from generating a faithful representation of a human brain in vitro, iPSC-derived neurons offer a very close approximation. The work of Judy Bloom and Stormy Chamberlain is in this sense an essential outcome measure.
  • The comparison between Christianson and Angelman syndromes: I have always found fascinating the possibility of finding new Ube3a interactors via Angelman-like disorders, and current research that is focusing on common aspects in the pathophysiology and cellular biology of both Angelman and Christianson syndromes is incredibly interersting.

Overall I think these type of symposia where the top scientists of the field have the possibility of talking and sharing ideas are the true fuel of scientific research. There is no progress without confrontation and the ASF/Dup15q conference allowed just that.

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