ASPE (Neurexin Nexus) blog introduction

Posted On: March 02, 2021

Quick Summary!

Welcome to the Neurexin Nexus! Our hope is to use this platform to build a relationship between scientists and non-scientists and to make research findings accessible to the general public. This blog, written for non-scientists, discusses ongoing genetics and neuroscience research relevant to autism. In addition to describing recent scientific findings, we hope to include perspectives from researchers, study participants, clinical geneticists, and caregivers/parents.

The Autism Spectrum Program of Excellence (ASPE) was established in 2017 at the Perelman School of Medicine at the University of Pennsylvania to improve the understanding of the genetics and neuroscience of autism spectrum and the gene, NRXN1, which has been previously associated with autism. The goal of ASPE’s work is to learn more about how genetic background and specific genes influence the brain and behavior. ASPE research involves a wide range of fields and disciplines, including studies on cells, genetic animal models (worms, flies, and mice), human genetics, and human behavior. However, our research does not exist in a vacuum and is informed by research at research institutions around the world! We leverage the findings of other scientists in our own studies and aim to bring information about their research and our own to you through this blog!

Posts on this blog will be written primarily by students and trainees, with input from faculty, staff, and members of the autism community. These posts will take multiple formats (explanation of scientific topic, summary of scientific publication(s), interviews with scientists, research participants, family, etc.) and will cover diverse and interesting perspectives that are relevant to those interested in learning more about genetics, neuroscience, and autism research.

One major focus of the blog will be on the biology of the NRXN1 gene, which codes for the protein neurexin 1. Deletions on chromosome 2, where NRXN1 is located, termed 2p16.3 deletions, are associated with autism and a number of other neuropsychiatric and neurodevelopmental conditions; however, they can also be found in unaffected individuals. Blog posts will summarize new research into the function of neurexin 1 and its role in the brain and behaviors.

The ASPE Program is continuing to recruit individuals with autism without intellectual disability, as well as individuals with NRXN1 deletions or mutations. For more information on our research, see our ASD Research Page.