Nicolò Pini (he/his/him) received his Ph.D. in bioengineering from Politecnico di Milano. His doctoral research focused on the development of machine learning methods for the noninvasive detection of fetal pathological states in the womb. He then transitioned to Columbia University Irving Medical Center (CUIMC) for his postdoctoral training. Currently, he is an associate research scientist at CUIMC, Department of Psychiatry, and at New York State Psychiatric Institute (NYSPI), Division of Developmental Neuroscience.

His current research focuses on the identification of brain-derived biomarkers to learn more about the link between neural pathways and genetic causes of autism. Pini is involved in the NIH-funded Autism Centers of Excellence (ACEs) at Columbia University titled Prospective Genetic Risk Evaluation and Assessment in Autism (PROGRESS) led by Wendy K. Chung, M.D., Ph.D., and Jeremy Veenstra-VanderWeele, M. The goal of the Center is to track children’s neurological, cognitive, and behavioral development to classify emerging features of autism spectrum disorder (ASD) in early development. This information could then be used to identify other children at risk for ASD. In this project, Pini is responsible for the development of signal processing techniques for the deep characterization of physiological-derived biomarkers for use in high-dimensional predictive models.

We interviewed Nicolò about his latest research projects and her collaboration with Simons Searchlight.

How did you first start collaborating with Simons Searchlight?

As part of my postdoctoral training, I had the unique opportunity of collaborating with Wendy K. Chung, M.D., Ph.D., and Jennifer M. Bain, MD, Ph.D., on a variety of research projects, including Natural History Studies (NHSs) of people diagnosed with rare genetic conditions. The majority of these studies are actively enrolling participants with the goal of characterizing the brain and behavior in these special populations.

While working on these projects, I realized that a large portion of the participants were also enrolled in Simons Searchlight. With one data request after another, I became familiar with the unprecedented wealth of data collected by Simons Searchlight and its outstanding contribution in the space of neurodevelopmental disorders (NDDs) and ASD research.

How have you and your team used information collected from Simons Searchlight families in your projects?

Although the primary focus of my research is deep phenotyping through the collection of physiological signals, we have been looking at behavioral data collected by Simons Searchlight. The primary goal is to describe associations between brain-derived biomarkers and behavioral outcomes.

What type of data did your team use, and was it associated with a specific genetic change?

My team has primarily focused on 2 genetic changes: HNRNPH2 and PPP2R5D. A wealth of data for these genetic diagnoses is available and curated by Simons Searchlight. In these cohorts of individuals, the main data type we have focused on is neurobehavioral outcomes.

We are actively looking into contextual and environmental variables to identify risk and resilience factors that shape the trajectories of developmental outcomes. My team is particularly interested in the role of sleep health as a potential protective factor. More recently, my team and I have started collaborating with Caitlin Hudac, Ph.D., to investigate data collected from participants who received a CSNK2A1, HIVEP2, MED13L, or SETBP1 genetic diagnosis.

How has using Simons Searchlight data aided in our understanding of the gene changes associated with autism and developmental delay?

The Simons Searchlight data repository is an unprecedented resource capable of accelerating biomedical research in the field of rare genetic conditions and associated NDDs. Data can be accessed in a totally anonymized and secure way, thus enabling cross-collaborative efforts among research groups. This approach, inspired by the principles of open science, has been crucial to my research for exploring associations between a wealth of exposures and risk for NDDs in analyses stratified by genetic diagnosis. Moreover, the outreach potential of Simons Searchlight has contributed to the collection of data from diverse groups of individuals, hence increasing the generalizability of the results.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study?

Families are central and fundamental to everything that the research community is currently doing, and planning to do in the near- and long-term future. The research community has invested a considerable number of resources into promoting scientific dissemination and family engagement, but a lot more work is yet to be done! Science can disseminate meaningful and applicable results, but only if it addresses the community-identified needs. Families play a central role in this process by shaping the scientific priorities and facilitating the dissemination of the findings.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

Our research teams are eager to request additional data as soon as they become available on Simons Searchlight. The goal is to move from data analyses leveraging cross-sectional data toward extracting longitudinal trajectories of development. We are currently looking for additional funding sources to expand the outreach of our research projects, and most importantly, continue the collaborations generated within Simons Searchlight-funded opportunities. Lastly, collaborating with Simons Searchlight ensures a concrete and actionable opportunity for communicating with families and disseminating the results of the research activities.

What kind of research did you do at the 2022 Family & Research Conference?

My research team partnered with Hudac and Bain to collect brain activity, also known as an electroencephalogram (EEG), in participants who received a CSNK2A1, HIVEP2, MED13L, or SETBP1 genetic diagnosis. The data collection was extremely successful – we had over 40 participants enroll and complete a session that involved wearing a wet EEG net, watching short videos, and listening to sounds for about 25 to 30 minutes.

What was the experience like for you? Do you have any specific highlights or stories that you would like to share?

The 2022 Family & Research Conference was such an enriching experience for my research team and for myself. I was genuinely impressed by the enthusiasm that families expressed in participating in research and asking very interesting questions regarding ongoing studies or future research opportunities. Building new collaborations with scientists and meaningful relationships with families played an integral part in the success of this experience.

How has this experience affected your research moving forward?

I feel a great sense of responsibility towards the families who contributed data at the 2022 Family & Research Conference. We are working on several analytical approaches that we plan to share with the family groups ahead of the manuscripts being submitted for publication. It is imperative to devote resources to return findings to these groups who have devoted time and energy to our research groups. Lastly, getting to know more about the research programs carried out by others has stimulated my creativity and enthusiasm. I cannot wait to attend another event in the near future!