As originally reported in Angelman Syndrome News,
Terry Jo Bichell is a PhD researcher, former director and scientific officer of the Angelman Biomarkers and Outcomes Measures Alliance and Tennessee’s ambassador on the Rare Action Network for a project of the National Organization for Rare Diseases, NORD. She is also a mother of four, with a son with Angelman syndrome.
When she got a call while working as a midwife that her son had Angelman syndrome, an ultra rare disease, she found that the neuro-developmental disorder at the time had no treatment options. She was left with the eery knowledge that her son would never be able to communicate. She recalls finding an Internet café and searching about the disease for hours. She explained, “They told me to just go home and have a good life.” So instead, at age 49, she went home and applied to get a PhD in neuroscience at Vanderbilt University. Since then, she’s dedicated her life and career into helping research for her son.
Angelman Syndrome is a neuro-genetic disorder that affects the central nervous system. It results in developmental issues, seizures, and neurological problems. As a result, those with the disease tend to not be able to speak, to have little control of body movement meaning most sufferers cannot walk, thrust their tongue, and move in a jerky way. The disorder affects about 1 in 10,000 to 15,000 births, though it is often misdiagnosed as autism or cerebral palsy. Those with the disease still can expect a normal life span. There is currently no cure, but there are treatments to deal with some of the symptoms.
Bichell’s latest project is called COMBINEDBrain, or the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders. She decided to form an organization that combines research for twelve distinct ultra-rare diseases advocacy groups, each of which are non-verbal and neuro-developmental, including Rett Syndrome and spiral muscular atrophy. She’s created this consortium after years in the line of work, participating with various approachs. She’s found that many of these diseases are so hard to cure because they have such tiny patient groups. She might not be just looking for a cure though- she suggests they could find drugs that help quality of life, anxiety, sleep. If that is the aim, the clinical trials would need to be designed to measure this, not only measuring if it can help this non-verbal population talk. She points out that since so much research searches for a cure, they often fail to get the intermediary part- to make the lives better even if its not as sexy as a cure.
Power often comes in numbers, and she has found this collaboration is mutually beneficial. Bichell explained, “The idea is that many rare genetic neurological disorders like Angelman syndrome will share similar biomarkers and outcome measures, so we shouldn’t have to remake the wheel in the drug development process.” Often, repurposing drugs or tinkering with pre-existing ones is cheaper and largely effective.
The Organizations Unique Approach
Bichell planned for the organization to uniquely focus on biomarkers and rodent model characterization because many of these rare disorders have similar biomarkers and outcome measures. This will hopefully make drug development faster by building on the previous research of the many different, but related diseases. She describes CombineBrain’s approach and goals, explaining, “We’re trying to fast-track drug development for these disorders by building on the successes and failures of those who have come before.” Bichell believes this can show pharmaceutical companies that making these drugs can be affordable and created more easily than they might expect. This comes by finding the unique diseases codes which help identify patients and define the diseases. This is relevant for Angelman because it is frequently misdiagnosed.
She’s hopeful. While the disease has been traditionally without options, her son is born in a time where he may actually get a cure.