IDefine Blog
IDefine News  - March 22, 2022
Matt Lockwood - AUTHOR

In effort to fast track therapies, IDefine joins COMBINEDBrain

They say that two heads are better than one.

So, imagine the wealth of knowledge in COMBINEDBrain, the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders. The nonprofit consortium brings together 30 patient advocacy groups to speed the path to clinical treatments for people with severe rare genetic, nonverbal neurodevelopmental disorders by pooling efforts, studies and data.

IDefine is pleased to announce it is COMBINEDBrain’s newest partner organization.

“We know it will take a village to accomplish our goals, so it is really exciting to join this community dedicated to fast-tracking cures and therapies for our rare genetic disorders,” said Geoff Rhyne, CEO of IDefine.

What COMBINEDBrain Offers

COMBINEDBrain, which represents more than 6,000 families with children with intellectual disabilities, is the brainchild of the mother of a child with a rare genetic disease. It launched in 2019 in Nashville.

Terry Jo Bichell was a nurse-midwife when her fifth child, Lou, was diagnosed with Angelman syndrome. Terry Jo made the shift from midwifery to clinical research on Angelman syndrome, and eventually went on to earn a Ph.D. in neuroscience from Vanderbilt University in an effort to find treatments for her son. She founded COMBINEDBrain to share her hard-earned knowledge and assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.

“When an organization joins COMBINEDBrain, our team of scientific experts comb the literature about the condition, create a disease concept map of it and then combine it with our other conditions to look for synergies,” said Kristin Hatcher, deputy director of COMBINEDBrain. “Our team of 11 science employees meets twice a week to discuss everything going on in COMBINEDBrain, so you literally have some of the best minds talking about your disease twice a week.”

Ongoing projects of Note

Among COMBINEDBrain’s exciting projects are its biorepository and an FDA grant in partnership with Duke University to better understand the communication abilities of people with rare neurodevelopmental disorders.

The biorepository was created in July 2021 and patient advocacy groups can join it for free. It stores biofluids such as blood, cerebrospinal fluid, urine and saliva as well as tissue biopsies at a facility in New Jersey. The biorepository serves as a centralized location for interested researchers to get access to a variety of samples from diseases with different causes but overlapping clinical symptoms.

Kristin Hatcher, deputy director of COMBINEDBrain

“This is important because it allows Big Pharma to test potential therapeutic interventions that might be beneficial for several disorders,” said Kristin. “As a rare disease patient myself, I want the pharma companies to have my information. If Pfizer says, ‘I want to experiment on your disease,’ you would love to be able to say, ‘Here’s everything for it.’ We’re working on an online catalog, so if somebody wants to experiment on your disease, we have those samples ready to go.”

Patient advocacy groups that participate in sample collections govern the distribution of their own samples.

 The project with the FDA and Duke is called Expanding the Observer-Reported Communication Ability (ORCA) Measure: Measuring the communication ability of individuals with rare, neurodevelopmental disorders. The study – currently in the recruitment phase – will use rigorous qualitative and quantitative methods to support the ORCA questionnaire’s use with 13 neurodevelopmental disorders in which verbal speech is significantly impacted.


COMBINEDBrain provided the patients for the ORCA measure to help fast track things.

Another innovative COMBINEDBrain offering is its Rent-a-Scientist program.

The impetus behind the program is many patient advocacy groups could benefit from an available scientific officer, but as parents of children with a rare disease they do not personally have the time or the funding to hire a dedicated position within their organization. So, COMBINEDBrain makes its 11-person scientific team available for rent.

“The mission of COMBINEDBrain is to work on cross-disorder projects, but our members also have specific projects that require scientific expertise,” said Kristin. “You can rent one of our scientists for five hours a week or to do a literature search, whatever you need.”

Once again, adding to the brain power.