How a research couple is fighting to find a cure for their daughter’s rare disease, the developmental disorder known as Angelman syndrome.
Most children are diagnosed with Angelman syndrome between one and two years old. The symptoms of the developmental disorder are almost too subtle to be noticed before that age, and the only way to diagnose the disease is with a genetic test.
For this episode of Eureka’s Sounds of Science, Dr. Allyson Berent talks about her deeply personal fight against Angelman. Allyson’s second child Quincy was born with Angelman, but the Berents’ medical expertise led them to catch her symptoms much earlier.
“Our pediatrician, who’s amazing, really just felt that she was on a different trajectory than our older neurotypical child, and that we shouldn’t be too concerned,” said Allyson. “But my husband and I both being in the medical profession – we’re both veterinarians – we felt it was more than that.”
A second opinion from a neurologist led to similar conclusions – Quincy was just delayed, but not out of the common range for children her age. The Berents went ahead with a genetic test anyway, and Quincy was diagnosed with Angelman at five and a half months.
Angelman is a genetic disorder where a mutation on chromosome 15 causes certain genes from the mother to function improperly or to be silenced. Since the chromosome from the father is typically inactive in the brain, this leads to several outcomes depending on which genes are affected. People with Angelman are usually happy and relatively healthy, but they can suffer from developmental delays, seizures, sleep issues, and can be nonverbal.
With the news of Quincy’s diagnosis, Allyson’s quest to help her daughter began. She became chief science officer of the Foundation for Angelman Syndrome Therapeutics (FAST) and the chief operating officer for FAST’s for-profit arm GeneTx Biotherapeutics. While continuing to work in veterinary medicine and research and raising three children, Allyson has devoted a significant portion of her life to finding a cure for Quincy.
Her quest so far has been fruitful. After hearing for over five years that clinical trials for possible treatments are “only two years away,” GeneTx has completed GLP IND studies in August 2019. They plan to submit an IND for human trials in early 2020.
This proposed treatment, one of several they are working to bring forward, is based on one of the hottest areas of genetic therapy research: antisense oligonucleotides. These drugs are designed to turn on the silenced paternal copy of the gene responsible for Angelman, but the actual mechanism for this is more difficult than it sounds.
“You have to create this antisense oligo to have the right backbones, the right modifications, and the right sequence to target exactly the genetic material you want it to target,” said Allyson.
For more details on Angelman, tune into Sounds of Science and hear more about Allyson’s attempts to build a brighter future for Quincy.