Researchers have discovered a link between circadian rhythms and Angelman syndrome, a genetic disorder which inhibits brain development leaving its victims unable to speak while suffering from seizures and sleep problems. The link between the biological clock and Angelman’s could prove to be a powerful tool in the search for treatments and a possible cure for the disease. Its discovery was made in part by a mother who has sacrificed everything in order to try and help her son. Ben Gruber has more.
NASHVILLE, TENNESSEE, UNITED STATES (REUTERS) – At 55-years-old, Terry Jo Bichell is a couple of months away from earning a PHD in neuroscience. She says it puts her one step closer to achieving a goal she set out for herself 16 years ago – to cure her son Louis from Angelman Syndrome, a genetic disorder which inhibits brain development leaving its victims unable to speak while suffering from seizures and sleep problems.
A mother of five, Terry Jo had spent her life dedicated to helping woman and children, first as a documentary film maker in Africa and then as a nurse and midwife.
“When I had my fifth kid and he turned out to be diagnosed with Angelman Syndrome I stopped caring about other woman children and other woman’s problems and that is really true,” she said.
Terry Jo shifted her entire focus to Louis.
Angelman Syndrome, or AS, is neuro-genetic disorder characterized by intellectual and developmental disabilities. It occurs when the maternal gene, UBE3A, is either missing or damaged. That gene regulates the concentration of a protein important to development in the brain.
For more than a decade, Bichell sought out researchers and helped fund experiments and clinical trials in the hopes of finding treatments for AS. The process, she says, was too slow. She came to the realization that in order to really make a difference in the world of doctors and scientists, she needed to become one herself. So she went back to school to study neuroscience.
During that time, research towards experimental treatments for AS progressed, revolving around ways to activate the paternal copy of UBE3A in the brain. The experiments proved promising in mouse models.
The problem is that even if a drug is successful in activating the paternal gene, the researchers had no viable way to gauge if it is actually working as changes could take months or years to manifest. They needed a litmus test of sorts. Bichell found one.
As part of her studies, Bichell started working with professor Carl Johnson. They discovered a link between AS and circadian rhythms with mice models showing that the disorder effects the biological clock.
“Our piece of the puzzle could be to use this biological clock phenomenon to see if the therapeutic treatment changes the biological clock which would suggest that yes that treatment is really working,” said Johnson, a professor of biological sciences at Vanderbilt University.
“So if we turn the gene on we can see – did the circadian rhythms get better or not and we should be able to see that right away,” Bichell added.
Elizabeth Dykaens is the director of the Vanderbilt Kennedy Center for research on human development. She says that while the progress Terry Jo and others are making will most likely benefit the next generation of people diagnosed with AS, there is still hope to improve Louis’ life as well.
“I think to really understand how these disorders develop because they are developmental disorders, which means changes over time that we also need to study older individuals and assess the relative impact of if we intervene in infancy or early childhood versus an adolescent or young adult. What kind of changes do we see? We owe it to those families and scientifically we have a lot to again from studying those families as well,” Dykaens said.
These days Terry Jo Bichell feels her life has gone full circle, back to the days of helping others.
“So all of this has been a push to cure my kid and then in the end, I am going to cure other woman’s kids and you know what? And that is so great. I met this baby just a couple of months ago. This family is so smart and they have this little baby just diagnosed with Angelman’s Syndrome and I was looking at that baby and I was thinking, we are going to cure that baby, we are going to cure that baby.”
Terry Jo Bichell says she will not rest until that day comes.