CENTER FOR AUTISM RESEARCH AND TRANSLATION

The mission of the UC Irvine Center for Autism Research and Translation (CART) is to develop the first transformative treatment of autism within five years.

To achieve that goal, we are coupling cutting-edge discovery and top-notch research methodologies with preclinical and clinical testing of new drugs and diagnostics. The focus is on creating state-of-the-art diagnosis and treatment for individuals with autism.

These approaches will improve lives and resolve the burden of autism for the child, the family, the community in Southern California and eventually will help everyone on the autism spectrum.

Centered Around Autism

Click here to visit/return to official website

Work within CART has already discovered a functional, cell-based, non-genomic biomarker of ASD with the ability to diagnose 85% of typical and syndromic ASD, potentially allowing risk diagnosis at birth and early therapy.  The first of a series of patents on this discovery was just issued to UCI this year.  Key publications follow:

Schmunk G., B.J. Boubion, I. Smith, I. Parker, J.J. Gargus. (2015). Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic ASD syndromes.  Translational Psychiatry.   5:e643. doi: 10.1038/tp.2015.123. [Epub ahead of print]

Schmunk G., R.L.Nguyen, D.L. Ferguson, K. Kumar, I. Parker, J.J. Gargus. (2016) High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.  Scientific Reports, Feb 1;7:40740. doi: 10.1038/srep40740.

Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D’Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA. (2017) Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.  Nat Neurosci. 20:1217-1224.

Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ (2018).  Intracellular calcium dysregulation in Autism Spectrum Disorder: an analysis of converging organelle signaling pathways.  BBA Molecular Cell Research 1865(11 Pt B):1718-1732.

ASC Consortium (2020).  Large-scale exome sequencing study implicates both     developmental and functional changes in the neurobiology of autism.  Cell 2020 180: 568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. PMID: 31981491

Patents:

Schmunk, G., Smith, I., Parker, I., Gargus J.J. (2014).  Defective Calcium Signaling as a tool in Autism Spectrum Disorders.  Patent filing UC2014-805-1. Issue date 10/02/2020, #16/224,043.  John Jay Gargus, Defective Calcium Signaling as a Tool in Autism Spectrum Disorder.

Schmunk, G., Smith, I., Parker, I., Gargus J.J. (2015).  Defective Calcium Signaling as a tool in Typical Autism.  Provisional Patent filing UC2015.