Researchers at the Seaver Autism Center, led by Dr. Alex Kolevzon, have begun a clinical trial to evaluate insulin-like growth factor in children who have SHANK3 deficiency, a known cause of autism spectrum disorder. Click here to read the press release!
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The Centers for Disease Control and Prevention report that the prevalence of autism spectrum disorders has increased to 1 in 88 children. Click here to learn more.
Help us Learn More about Early Autism Diagnoses
The Seaver Autism Center at the Mount Sinai School of Medicine is collaborating with Columbia University as well as the Autism Science Foundation to better identify barriers to early diagnosis of autism spectrum disorders. “Early behavioral intervention is a critical part of treatment for autism spectrum disorders,” said Dr. Joseph Buxbaum, Director of the Seaver Center. “Understanding causes for delayed diagnosis will help ensure that more children on the spectrum receive the earliest possible treatment.”
We invite you to participate in this research by completing a short survey. The survey is specifically for parents of children with ASD and focuses on timing issues, i.e., when parents, family members, and friends began to recognize that a child’s development was not proceeding in a typical manner. The survey should take you about 10 minutes to complete. Please click here to complete the survey.
If you have any questions about this research, please contact the office of the Seaver Autism Center research team at 212-241-0961.
“Please join the Phelan-McDermid Syndrome Foundation for a conversation with Joseph Buxbaum, PhD, and Alex Kolevzon, MD. We’ll discuss the basic science and clinical research projects that are underway at the Seaver Autism Center at Mt. Sinai School of Medicine in New York City.” — PMSF
Reserve your Webinar seat now at:
https://www3.gotomeeting.com/register/183419862
Title: Research Webinar: Bench to Bedside at Mt. Sinai
Date: Thursday, January 26, 2012
Time: 12:30PM – 1:30PM EST
System Requirements
PC-based attendees
Required: Windows®7, Vista, XP or 2003 Server
Macintosh®-based attendees
Required: Mac OS® X 10.5 or newer
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System Requirements |
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Macintosh®-based attendees |
At the recent Society for Neuroscience meeting in Washington, D.C., Dr. Joseph Buxbaum presented the first rat model lacking a copy of the Shank3 gene. This is a very important step in Shank3 research, as rat models provide benefits that mouse models cannot.To read more about recent rat models for autism spectrum disorders in Nature, please click here.
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At the recent International Congress of Human Genetics in Montreal, Canada, Dr. Joseph Buxbaum presented findings indicating that insulin-like growth factor-1 (IGF-1) leads to improvements in brain functioning in mice lacking a copy of the Shank3 gene. In 2012, Dr. Buxbaum and his team will be conducting a clinical trial to find whether IGF-1 produces the same results in children lacking a copy of the gene.
For more information about the clinical trial and the presentation in Montreal, please read the full write-up by SFARI (Simons Foundation Autism Research Initiative) please click here.
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A new study shows that SHANK3 is also involved in Alzheimer’s disease and shows the important role Zinc plays in the function of SHANK3.
To read the full text of this study, please click http://www.ncbi.nlm.nih.gov/pubmed/21939532.
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The New York Times recently published an article about the transition into adulthood for people with ASD. The article details the experiences of one young man as he entered the work force. (Read the full article here: Autistic and Seeking a Place in an Adult World). In response to this article Dr. Joseph Buxbaum, Director of the Seaver Autism Center, wrote a letter to the editor that appeared in the print and online version of the New York Times on Saturday, September 24, 2011. Dr. Buxbaum expressed a need for “increased resources for families and for research,” explaining that these two approaches “will ensure that society will fully enjoy the unique contributions of individuals with autism spectrum disorder.” (Read the full letter here: Investing in Helping Adults With Autism).
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Congratulations to Alex Kolevzon, Clinical Director of the Seaver Autism Center, and Sandeep Soorya, (husband of Latha Soorya, Chief Psychologist of the Seaver Center), who placed 23rd in the Relay Team Division at the Nautica New York City Triathlon! Half the proceeds from their team go to Team Drive4Rebecca, and the other half go to the Seaver Center for Shank3/PMS research. Thank you to everyone who donated!
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Researchers at the Cytogenetics Laboratory, Scientific Institute E. Medea in Bosisio Parini, Italy have completed a study using 22q13 deletions as a model for examining the mechanisms behind terminal deletions. This study confirms that the major neurological features of Phelan-McDermid Syndrome are caused by haploinsufficiency of the SHANK3 gene. The group identified several cases with a microdeletion only affecting SHANK3. In one case only full-length SHANK3 (also called SHANK3A) was disrupted. Dr. Buxbaum’s lab has previously shown that SHANK3A mutations can cause deficits in social interaction and social communication in mouse models. To read the full text of this study, please click http://www.ncbi.nlm.nih.gov/pubmed/21779178.
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