Research Update: Cystinosis & The Brain

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A high-level research update from Ana Francisco, Sophie Molholm, PhD Co-Principal Investigator, John Foxe, PhD Co- Principal Investigator on their Cognitive Control Systems in Cystinosis study can be found below.

The past two years have been challenging for most of us in many ways. The world paused. And so did the Cognitive Neurophysiology Lab. We didn’t know if we would be able to make up for the lost time, but we were not willing to risk our participants’ and their families’ health, so we waited. 

SPOILER ALERT: We’re back! 

While we were waiting, we did our best to stay in touch with the community and thought of ways to understand the impact that the pandemic was having on the cystinosis and other communities with rare genetic conditions. For example, we created an online survey that asked questions about feelings, experiences, fears, and thoughts about things like vaccination. A quick look at your answers tells us that changes in access to medical care (less communication and appointments) further strained the community. During 2021, increased fear and anxiety- and depression-type symptoms were more common and burdensome. And, due to the needed prolonged social isolation, most families had concerns about future social interactions and how successful their children would be when resuming regular life. Though most were willing to get vaccinated, there were serious concerns about the lack of knowledge and evidence on the potential effects of the COVID-19 vaccine in those living with a rare condition.  

If you or a family member are struggling, please consider looking for help. If you don’t how or where to start, contact us (Ana Francisco, or 718-862-1824) and we’ll give you our best advice on how to look for adequate services. 

While we were waiting, we also took the time to prepare our new project. The goal of this new project is to characterize cognitive control in cystinosis, focusing on different components and skills. Briefly, cognitive control is the ability to engage in goal-oriented behaviors, allowing the brain to solve difficult, novel, or complex tasks, such as correcting errors. We’re particularly excited about this project, because it was developed after conversations with families and people with cystinosis, who feel like so many of their difficulties are cognitive control difficulties. In this new project we use EEG (remember the funny swimming caps and the many electrodes which allow us to look at your brain activity?), cognitive testing, and questionnaires. And we’ll relate all these measures to get at the bigger picture and hopefully use science to explain those difficulties felt by people with cystinosis and contribute to the development of target interventions, leveraging strengths and working on weaknesses. In this project, we are also adding a group of parents. This will allow us to better test what the impact of the mutation versus the impact of the disease is on the cognitive profile associated with cystinosis (also, the parents’ inclusion might or might not have been a request from our participants with cystinosis, who felt the parents ought to do some work too J).  

So, last year we were busy creating and testing the new computer tasks (really fun this time around!) to make sure they were working well and were adequate for many different ages. We have rocked those funny EEG caps too many times in your absence… And now, with a fully vaccinated staff and taking all precautions, we have started welcoming participants and their families! Recruitment has begun and we had our first visits in December and January. But we need many more of you! So, if you or your child have cystinosis and you’d like to come to New York to participate in a research study, contact Ana Francisco at or 718-862-1824. This is a 3-day study involving in-person visits to our lab. We cover accommodation and travel and will give you the best tips about New York.  

See you soon, take care!