Yearly Archives: 2012

“The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders”

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

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“Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion”

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

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New study confirm Shank3 findings

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.

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Seaver Autism Center – 16th Annual Advances in Autism Conference 10/14/12

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

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“Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills”

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.

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Researchers investigate adult regression in Phelan-McDermid Syndrome

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.

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Rebecca and Jon Singer on CBS New York

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.

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First participant in IGF-1 clinical trial

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

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Recent PMS paper by Drs. Phelan and McDermid

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

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Recent study by Seaver researchers about Shank3 mice

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

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