The NeuroDevelopmental Variability Initiative

The Initiative brings together experts in human genetics, neurobiology, and cellular and tissue modeling work to understand neurodevelopmental diagnoses (NDDs), which include intellectual disability (ID), autism, attention deficit hyperactivity disorder (ADHD), and many other health outcomes. 

Supporting collaboration and integration

Advancing human health and developing therapeutic interventions tailored to individual need requires new conceptual frameworks for understanding complex diagnoses, ones based in multidisciplinary approaches that bring together discoveries from many different fields. Co-chaired by Elise Robinson, Michael Talkowski, and Paola Arlotta, the Neurodevelopmental Variability Initiative integrates the activities of more than 15 research groups across the Broad’s ecosystem to nucleate findings from large-scale NDD research efforts. 

Our work is grounded in the collaborative work of the Autism Sequencing Consortium and Psychiatric Genomics Consortium (which have brought together genetic data from more than 50,000 autistic individuals), as well as the NeuroDev and Akili projects, which are working to increase population diversity in neurodevelopmental research. These studies not only enable us to better understand autism, ID, and ADHD, but to incorporate diversity in NDD experience and etiology.

NDV-affiliated researchers are also developing tools, technologies, and resources intended to fundamentally change the way scientists study human developmental variability in the lab. These include: 

• building patient-derived organoid (3D) models of the brain, 
• assembling and analyzing the world’s largest collection of post-mortem brain samples characterize at single-cell resolution, and 
• generating a bank of over 200 induced pluripotent stem cell lines with NDD-associated genetic differences.

Initiative-affiliated scientists are pioneers in statistical genetics and computational biology, and work with the Eric and Wendy Schmidt Center at the Broad Institute to create improved approaches for modeling complex multimodal datasets. 

Improving communication and promoting understanding

We work closely with NDD patient communities to understand their diverse priorities, and to develop inclusive and thoughtful research programs responsive to need. Together with the Autism Science Foundation, NDV hosts HEARD (Healthy Engagement in Autism Research Dialogue), a communication space where researchers, self-advocates, family members and caregivers can have conversations about sensitive topics in the NDD community. NDV also collaborates with centers at Massachusetts General Hospital and Boston Children's Hospital to incorporate clinicians and clinical care in our research endeavors.  

These engagements lead to better research design and dissemination, and encourage attention to individual patient goals. To emphasize individuality in the experience and etiology of NDDs, the Initiative also supports MINERVA, an educational website focused on diversity in autism genetics.