A look back at the first year of NeuroDev

Researchers are working to characterize the genetic and phenotypic data of people with neurodevelopmental conditions in Kenya and South Africa.

NeuroDev researchers from Kenya, South Africa, and the United States at a meeting in Nairobi, Kenya.
Credit: Aga Khan University Institute for Human Development
NeuroDev researchers from Kenya, South Africa, and the United States at a meeting in Nairobi, Kenya.

Some of the most diverse genomes in the world come from populations of African descent. However, most genome databases lack a robust collection of these populations’ data due to a lack of representation in research. As such, people of African descent are grossly underrepresented in genetic databases worldwide. These missing data could potentially reveal the answers to questions surrounding genetics and disease, but their absence limits the ability to make scientific discoveries that could help a broader range of people. 

Elise Robinson
Elise Robinson

To bridge this knowledge gap in the context of neurodevelopmental disorders, researchers at the Broad Institute of MIT and Harvard; KEMRI-Wellcome Trust and Aga Khan University (AKU) in Kenya; and South Africa's University of Cape Town (UCT) have been working together on NeuroDev, a four-year study designed to increase the amount of African genomic data available for neurodevelopmental research. The study has been recruiting and collecting genetic and phenotypic data from children with neurodevelopmental conditions, such as autism, from around Kilifi, Kenya and Cape Town to look for connections between genetics and the clinical presentations of neurodevelopmental conditions. When possible, the team is also sequencing family members' genomes as well. 

The team has now released the results from the first year of the project in a paper published in Neuron. In this Q&A, we sat down with Elise Robinson, an institute member in the Stanley Center for Psychiatric Research, who leads NeuroDev along with Kirsty Donald of UCT and Amina Abubakar of AKU; data analyst Ally Kim (Broad), and doctoral candidate and first author Patricia Kipkemoi (KEMRI) to discuss some of the personal and scientific highlights from the first year of NeuroDev.

What are some of the standout results from the first year?

Patricia: We found participants generally had either one or a combination of developmental conditions, mostly autism or global developmental delay. Although we expected it, it was exciting to see that our participants were from both ancestrally and linguistically diverse families. 

Participants in our study also tended to have more neurodevelopmentally-severe presentations of autism-related conditions, with comorbidities such as motor delays and increased likelihoods of seizures. This could come from a bias of sorts as the participants who come to the clinics that we recruit from tend to display more severe behaviors.

Ally: There are three main points that stand out to me as being both scientifically and ethically important. First, there are many more populations represented in our work than have never been represented in autism research before. That's important because within Kenya and South Africa there are multiple ancestral groups, all of whom have distinct genetic backgrounds.

Second, the longer history of African populations has led us to start thinking about more variants of uncertain significance — variants for which it's not yet clear whether they raise or reduce risk — that we otherwise wouldn’t have access to. As we gather more genomic data, we can better assess the prevalence of these kinds of variants, which opens the door to potentially determining a variant’s connection to a health condition. Lastly, we see a direct relationship between how a genetic variant affects a phenotype and the scores from our adapted assessments. I think that all of the steps we’ve taken toward equity and representation in assessment tool creation are helping us be more inclusive to people who have traditionally been left out of research. 

Ally Kim (left) and Patricia Kipkemoi (right) in Nairobi, Kenya.
Credit: Aga Khan University Institute for Human Development
Ally Kim (left) and Patricia Kipkemoi (right) in Nairobi, Kenya.

What were some of the memorable challenges of that first year?

Elise: I think most of what made it challenging was on the collection side. The Kenyan and South African teams were constantly reflecting and evolving to ensure quality of the project. I will never forget when we were writing the protocol and we made this long list of all the things we could imagine going wrong. And then there was a global pandemic, which, as you can imagine, wasn't on our list. 

Patricia: At the beginning of the project, it was exciting to think about how to adjust pre-existing neurodevelopmental and behavioral assessments so that they work in our context. Many of the tools that we use in Africa have been developed in the United States or Europe, and most of the time they need adapting to work in our setting.

For example, we use a tool called the Molteno Adapted Scale that was originally developed in South Africa. It worked really well in Cape Town, but there's one question that  involves the use of a tricycle, which is not an item that's common in Kilifi. So we had to find another way to ask that question that would work in Kenya and still measure what we needed it to.

We also had to figure out how to describe complex topics like genetics to our participants, most of whom have low literacy levels. One of our team members came up with a story that we called the ‘Story of Maize’, which explained how genes are like the instructions to life. 

Do you have any personal highlights from the first year of the study? 

Elise: My life would be much less rich without the community that we have built through NeuroDev. I feel extraordinarily fortunate that this work became a part of my life and it’s easy to reflect on how special of a community NeuroDev is.

Patricia: I agree completely. And thinking about our participants, we’ve been able to create a space where people can freely discuss their or their family’s condition. It can be stigmatizing to have a child with a disability, and we are helping to raise awareness to normalize these conditions. 

Another thing we did was use a Polaroid camera to take pictures of participants during their assessments. Then we ended up taking pictures of our participants and their families to give to them as they left, and also took pictures for people to use for passport applications. It’s those little things that I thought were special.

What advice would you give to someone who wants to start a study similar to this? 

Elise: NeuroDev has been a lot of work for a lot of people, but at the end of the day we are an uncommonly harmonious team, especially for one that is so geographically dispersed. The team dynamic has made NeuroDev possible in terms of its complexity and goals, while also having made it a joy to work on. My advice would be to pay close attention to your relationships with your collaborators and try your best to support them.

Ally: It's really hard to find standardized methods to use for projects like this because traditional methods often rely on population databases that are biased toward European ancestry. Sometimes, you will have to be the first person to think about how to adapt traditional methods to test a new population. My advice is to think about potential challenges you could face and how you would approach solving them before starting your study. 

Patricia: As some of the primary investigators say, the gestational age of NeuroDev was that of an elephant. For a project as complex and multi-faceted as NeuroDev, it was necessary for a plan to be made and thoughtfully carried out. Be prepared for a study like this to take time to get things going.



This work is supported by the Stanley Center for Psychiatric Research at the Broad Institute, the Simons Foundation Autism Research Initiative, the National Institute of Mental Health of the National Institutes of Health, the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health, the National Human Genome Research Institute, the National Eye Institute,  the National Heart, Lung, and Blood Institute, and the National Human Genome Research Institute.

Papers Cited

Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, et al. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. Online July 17, 2023. DOI:10.1016/j.neuron.2023.06.010