FAST Blog

Help create AS cell lines to test new therapeutics for each genotype

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HIC number is 2000026262

Angelman syndrome research needs your help!  Volunteers are needed, individuals with Angelman syndrome (AS), aged 5-18 years of age, to donate blood to the Department of Genetics and Neuroscience at the Yale School of Medicine under the direction of Professor Yong-hui Jiang.  Dr. Jiang aims to create a biorepository of human AS stem cells. This will enable testing of novel therapeutics across all AS genotypes including mutation, ICD, UPD, and different classes of deletion.  The goal is for the biorepository to be shared with academic institutes and industrial laboratories to test their potential drugs.

What the study is about:
Since Dr. Jiang developed the first mouse model of AS in the late 90s, mouse models have become the standard research tool to determine the potential of various treatments. As the toolkit for new therapies has broadened to include those that are molecularly-targeted – like antisense oligonucleotides (ASOs) and CRISPR-based gene therapies – the mouse model becomes more limited in use. This challenge is magnified when considering the testing across the range of genotypes of AS.

To meet this new research need, Dr. Jiang’s team, in concert with the Yale Stem Cell center (YSCC) and Induced Pluripotent Stem Cell (iPSC) Core Laboratory at Yale, are seeking to create and evaluate new tools for the AS research community. These include induced pluripotent stem cells, effectively cells that are able to be directed into growth as specialized cells like neurons. For some patients, we may ask for the production of lymphoblast cells. It also includes the development of brain-organoids. These “mini-brains” are only a few millimeters in size and completely nonfunctional for use as a “regular” brain. What they do provide; however, is a set of structures that are more analogous to the human brain than to those of mice or other rodents.

What I’m being asked to do:
With the funding from FAST, the team at Yale is seeking males and females aged 5-18 with all range of AS genotypes and both with and without abnormal EEGs or clinical seizures to contribute to this research. If you are accepted into the study, the protocol will include a blood draw, from which the iPSCs will be isolated and the brain organoids may be produced. When ready, these samples will be stored in a manner to provide expeditious delivery to the AS research community (these samples will be de-identified to fully protect the privacy of the individual donor). The blood draw will take place at the Yale campus in New Haven, Connecticut, USA or you can arrange with your children’s pediatrician’s office locally and ship to Yale University.

Risks and Benefits:
The only risks to the participant would be those that might potentially occur with a standard blood draw.

Payment:
There will be no compensation for participation with this project.

Privacy:
No one, besides the researchers, will know the true identity of the participant samples.

Contact:

If you are interested or would like to learn more about the project, please email
Cassandra Dean a  c.dean@yale.edu.

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