What two rare ‘social’ syndromes reveal about autism

BY Katherina Walz

The genetic underpinnings of autism are complex and hard to parse in most cases. Scientists have identified at least
100 genes that contribute to autism. But there are a few rare syndromes in which a single mutation can lead to the
social and behavioral characteristics of autism.

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PTLS Podcast – Coming Soon!

Education and Awareness Videos and Handouts- Coming Soon!

Study of Dental Pulp in PTLS Individuals

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN, is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including Potocki-Lupski Syndrome….READ MORE

Delaware Dave’s Walk

On April 9, 2013, a family member of one of our PTLS children decided to make yet another journey and hike a 2,650 mile hike on the Pacific Crest Trail, in honor of Potocki-Lupski Syndrome. As an uncle to a child diagnosed with PTLS and a wonderful supporter of the Foundation, Delaware Dave has shared his fantastic triumphs and beautiful photos from his journey. When asked as to why he walks, Delaware Dave responded with “it’s hard to put down in words something that is so monumental and all that this means to me. READ MORE

Dr. Jim Lupski Receives 2014 EMGS Award!

Baylor College of Medicine professor of molecular and human genetics Dr. Jim Lupski was recently named the recipient of the 2014 Environmental Mutagenesis and Genomics Society Award for recognition of his landmark work characterizing human mutations and linking them to disease. The Society gives this award to one researcher a year for outstanding research contributions in the area of environmental mutagenesis and genomics. READ MORE

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