Who We Are

The Studies to Advance Autism Research and Treatment (STAART) is a national collaboration with an affiliation with the Seaver Center of Excellence at The Mount Sinai School of Medicine. The Seaver Center was developed to study the biological causes of autism and to develop effective treatment options for autistic patients and their family members. Established by a grant in 1993 by the Beatrice and Samuel A. Seaver Foundation, the Seaver Center is a collaborative effort that integrates the work of child and adult psychiatry, experimental therapeutics, biological psychiatry, neuropsychology, neuroimaging, molecular genetics, immunology and psychopharmacology. The Seaver Center collaborates with community service organizations in the New York area, as well as sponsors a national annual autism conference attended by over 600 professionals and family members.

The Family Studies Research Center was founded by Dr. Jeremy Silverman and began researching the genetics of autism in 1995.   We are an affiliate of the Seaver Center and receive funding from the foundation yearly. In addition we also receive funding from the NIMH and privately funded organizations such as Cure Autism Now (CAN). Our research began using traditional genetic epidemiological studies (twin studies, family history and direct family studies) to help provide evidence for the presence of genetic factors in autism. Since that time, we have expanded to incorporate other methodologies including implicit learning studies, endophenotyping studies and cross-cultural studies to gain a more worldly understanding of this complicated disorder.

Background

Studies to Advance Autism Research and Treatment (STAART) are a network of sites established as one of the responses to the Children's Health Act of 2000.   Although the Act called for at least five centers of excellence in autism research, the five NIH Institutes involved in the NIH Autism Coordinating Committee (NIMH, NICHD, NINDS, NIDCD, & NIEHS) funded eight centers, all of which focus on the causes, diagnosis, early detection, prevention, and treatment of autism. Each center supports three or more research projects, with at least one study focused on treatment. In addition, the centers engage in multi-site clinical trials and collaborate through meetings, interest groups, and data sharing.

Purpose and Goals

The Family Studies Research Center is primarily concerned with the genetics portion of the STAART network.   Twin studies of autism have repeatedly found increased concordance for autism in monozygotic twins compared to dizygotic twins, offering very strong evidence for the presence of genetic factors.   However, familial patterns evident in families of autistic probands do not suggest the presence of a single gene when only autism is used to identify family members who are deemed to be "affected."   This may mean that autism has a polygenic etiology-the additive effects of multiple genes lead to autism when their number surpasses a certain threshold.   It may also suggest a major gene associated with autism which does not inevitably lead to autism, but perhaps produces a range of effects including autism.   Moreover, the powers of recent molecular biologic advances, now available, become greatly enhanced when whole families, including members with and without the disorder, can be studied.

In addition, evidence from genetic studies also suggests that those who possess a genotype for autism my have a range of phenotypes as well.   Therefore, we comprehensively assess each affected and unaffected member of the family and administer a battery of tests that will characterize relatives according to the presence or absence of cognitive deficits possibly sharing a genetic relationship with autism.   In this way we will characterize relatives according to whether or not they appear to carry an autism related gene.

Research Summary

We have just entered the eleventh year of research at the Family Studies Research Center and our second year collaborating as part of the STAART network.   Over the past decade, we have enrolled over 500 families (including 2700 individuals) with at least one member affected with an autism related disorder. Over 90% of those families have two or more members of their family affected with the disorder.   We have worked with families in 26 states as well as in Ireland, Puerto Rico and Canada.   As part of the STAART network we have enrolled approximately 25 families to date, incorporating a more rigorous protocol that enables us to study autism from more perspectives than before.

Our project also contributes blood samples to a national repository established at Rutgers University in New Jersey.   As part of our research, you have the option of also donating a portion of your blood to that repository which will be used to further investigate autism.   The repository will effectively give access to qualifying researchers across the nation to study the genetics of autism on a much larger and more comprehensive scale.

Our research has been highly successful and we have published numerous papers identifying potential genes that may be associated with the disorder.   For more details about our published works, please visit the "Publications" section of our webpage which is currently under construction.

Current Progress

We would like to thank all of the families that have been generous enough to donate their time and energy to our autism projects.   We are very appreciative and cannot thank them enough for contributing to not only our project, but also to society's need to have a better understanding of the genetics of autism.   Together we hope researchers, patients, and their families will find the path to effectively preventing and treating autism.

GCO# 01-1295

IRB Approved 6/05/07 - 4/30/08

Principal Investigator: Eric Hollander, MD

Sponsor: NIMH