Advancing Autism Research at Downstate

By Office of the President | Feb 20, 2024

In a notable advancement for autism research, Edward V. Quadros, Ph.D., research professor of Cell Biology, and Harris Huberman, M.D., MPH, developmental pediatrician and associate professor, both researchers at Downstate, are pioneering efforts to deepen our understanding and improve treatments for Autism Spectrum Disorder (ASD).

ASD affects nearly one in every 36 children in the United States, presenting a range of challenges, including difficulties in speech and social communication deficits, along with repetitive behaviors. Accurately diagnosing and effectively treating the disorder has proven to be a persistent challenge, and the urgency of this work cannot be overstated.

Given the scarcity of FDA-approved medical treatments, managing the intricacies of Autism Spectrum Disorder is daunting. Adding to this challenge is a critical shortage of culturally sensitive healthcare professionals, particularly prevalent in marginalized communities of color, where late or missed diagnoses occur at alarming rates.

Dr. Quadros, known for his understanding of the biochemistry of vitamin B12 and folate, has played a central role in uncovering an autoimmune condition hindering the transfer of folate from mother to fetus—a crucial element in brain development. His groundbreaking non-invasive test for identifying folate receptor antibodies has been licensed to a company, expanding its accessibility to healthcare providers and patients globally. Dr. Quadros’s current research concentrates on establishing connections between these antibodies and ASD.

Dr. Huberman and Dr. Quadros spearhead Downstate’s Division of Child Development, a referral center that specializes in recognizing and providing comprehensive care for children diagnosed with ASD. Dr. Huberman also serves as the Clinical Director of the Brooklyn LEND (Leadership Education in Neurodisabilities), backed by a $2.2 million grant from HRSA. Developed collaboratively with Downstate’s School of Health Professions and various departments within the College of Medicine, this initiative prioritizes the improvement of Autism Spectrum Disorder (ASD) services. Its objectives include the cultivation of culturally sensitive healthcare providers, the promotion of leadership skills, and the reinforcement of community connections related to ASD.

Collaborating with the Brain Foundation, a national coalition of researchers engaged in pioneering ASD investigations, and partnering with Richard Frye, M.D., Ph.D., of the Southwest Autism Research and Resource Center (SARRC) on projects funded by Autism Speaks and the Department of Defense, Drs. Quadros and Huberman have played pivotal roles in multi-institutional clinical trials conducted across Phoenix, Boston, and Brooklyn.

Scientists are exploring the capacity of Dr. Quadros’s assay to pinpoint children who could potentially benefit from treatment with leucovorin, an FDA-approved medication primarily utilized to mitigate the adverse effects of anti-folate pathway drugs employed in cancer therapy. Preliminary clinical trials indicate that folate antibodies may serve as a promising biomarker for autism, representing a noteworthy advancement in comprehending the disruption of folate pathways in ASD. These trials suggest that leucovorin holds promise as a treatment that enhances social communication skills and overall outcomes for individuals with ASD.

Although still in the experimental stages, the prospect of introducing this dual approach of biomarker assessment and early leucovorin treatment for children and adolescents receiving care through Downstate’s developmental clinic programs is very encouraging and generates significant excitement.

The study on leucovorin, released in the Journal of Personalized Medicine in January 2024, can be accessed here.