Yearly Archives: 2012

The Autism Sequencing Consortium has published a white paper in the journal Neuron, identifying several new potential drug targets for ASD and detailing steps forward for the field of autism research. The paper was first authored by Dr. Joseph D. … Continue reading →

Researchers at the University of Chicago have completed a study which “suggests that the 22q13 deletion phenotype includes abnormal posterior fossa structures that are unlikely to be attributed to SHANK3 disruption.” This study also indicates other genes which may be … Continue reading →

Researchers at Stanford University and Ulm University confirmed that autism and the Phelan-McDermid Syndrome-associated Shank3 mutation disrupt the connection between brain cells grown in the laboratory. Click here to read more. To view all posts, click here.

Our conference is a one-day event held at Mount Sinai School of Medicine. It includes a series of lectures and workshops given by accomplished professionals in the field of autism, including Dr. Simon Baron-Cohen as the keynote speaker. The purpose … Continue reading →

In this paper, researchers from the Centre for Human Genetics at the University Hospitals Leuven in Leuven, Belgium analyze clinical data from 7 patients with 22q13 Deletion Syndrome. Click here to read more. To view all posts, click here.

At the recent Phelan-McDermid Syndrome Foundation annual conference in Orlando, FL, researchers presented new findings on adult regression in Phelan-McDermid Syndrome. Click here to read more. To view all posts, click here.

Visit this page to hear Jon Singer on CBS New York discussing his daughter Rebecca’s participation in the IGF-1 clinical trial at the Seaver Autism Center. To view all posts, click here.

Rebecca Singer is the first participant in the Seaver Autism Center clinical trial of insulin-like growth factor-1 in children with Phelan-McDermid Syndrome. If this trial shows positive results, the eventual goal is to translate it to ASD more broadly. To … Continue reading →

Drs. Katy Phelan and Heather E. McDermid have recently published a paper in Molecular Syndromology, entitled “The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).” They note that Phelan-McDermid Syndrome is a syndromic form of autism spectrum disorders (ASD), and they discuss the … Continue reading →

Along with colleagues, Drs. Ozlem Bozdagi Gunal and Joseph Buxbaum have recently published a new study in The Journal of Neuroscience which details the phenotypic outcomes of different mutations in Shank3 mice. Click here to read “Reduced Excitatory Neurotransmission and … Continue reading →