NIH pumps $3M into Feinstein autism study

Piecing it together: Feinstein Institute researchers are tackling the autism puzzle by exploring the connection between antibodies in pregnant women and the child's autism risk.

The National Institutes of Health will fund a two-year Feinstein Institute for Medical Research study exploring risk factors behind autism spectrum disorders in newborns.

A $3 million NIH grant has been awarded to MDs Betty Diamond and Peter Gregersen, researchers in the Northwell Health System’s Manhasset-based R&D division, specifically to explore the relationship between a mother’s autoimmunity during pregnancy and the risk of ASD in her child.

Dr. Betty Diamond, head of the Feinstein Institute’s Center for Autoimmune and Musculoskeletal Diseases.

Dr. Betty Diamond, head of the Feinstein Institute’s Center for Autoimmune and Musculoskeletal Diseases.

The researchers are following up previous studies in which they discovered that an antibody can lead to abnormal brain development and ASD symptoms.

Also known as an “immunoglobulin,” an antibody is a Y-shaped protein produced mainly by plasma cells – white blood cells that can secrete large volumes of antibodies – used by the immune system to identify and neutralize pathogens including bacteria and viruses.

The new study seeks to determine if pregnant women with autoimmune inflammatory disorders such as rheumatoid arthritis, lupus or celiac disease have increased levels of antibodies – and therefore face an increased risk of having children on the autism spectrum.

Diamond, head of the Feinstein Institute’s Center for Autoimmune and Musculoskeletal Diseases, said she and co-lead investigator Gregersen are “extremely grateful” for the NIH’s support, noting the new research will “determine if there is a correlation between exposure to a specific antibody in utero and autism spectrum disorders.”

Dr. Peter Gregersen, head of the Feinstein Institute’s Robert S. Boas Center for Genomics & Human Genetics.

Dr. Peter Gregersen, head of the Feinstein Institute’s Robert S. Boas Center for Genomics & Human Genetics.

The new study, “Prenatal Autoimmune and Inflammatory Risk Factors for Autism Spectrum Disorders,” will follow 4,500 women who deliver babies at hospitals in the Northwell Health system and their offspring for two years. The mothers will be given a blood test during pregnancy to identify the presence of an autoimmune disease or diseases, as well as immune activation and increased levels of cytokines – tiny proteins critical to cell-signaling processes.

Diamond and Gregersen’s team will then monitor the children to detect signs of ASD.

While researchers have already determined that autism spectrum disorders are at least partly influenced by genetics, “relatively little attention has been paid to the role of environment, and particularly the intrauterine environment,” according to Gregersen, who heads the Feinstein Institute’s Robert S. Boas Center for Genomics & Human Genetics.

“Clearly, the increasing incidence of autism in recent decades cannot be ascribed to genetics,” Gregersen noted. “We believe that autoimmunity and inflammation play a major role here.”

Autism spectrum disorders are developmental disorders in which people exhibit social challenges that include difficulty communicating and interacting with others, as well as repetitive behaviors. These difficulties can affect the person’s ability to function socially and often surface within the first two years of life.

One in 68 U.S. children has been identified with an ASD disorder, according to the Centers for Disease Control. But understanding the precise relationship between antibodies and ASD could dramatically reduce those numbers, according to Diamond and Gregersen.

“If we do discover this correlation, we have the potential in the future to block or remove antibodies that produce autism spectrum disorders in utero,” Diamond said, “thereby preventing the child from living with the condition once born.”