Institute of Genomic Medicine

Dr. Peter Tolias, the executive director of the Institute of Genomic Medicine at the UMDNJ-New Jersey Medical School and Dr. Timothy Chang, a professor of Electrical and Computer Engineering at the New Jersey Institute of Technology, are receiving an Edison Award in the Enabling Technologies category for their patent of “Delivery of Metered Amounts of Liquid Materials.” Their patent provides a new liquid dispensing/aspirating system capable of producing tiny droplets of a substance for research and analysis. The initial application of the patent is focused on DNA microarray fabrication. Among its potential applications, the invention could significantly impact the healthcare research infrastructure by offering low cost, reliable and high throughput genetic analysis and screening for disease and drug identification.

The Research and Development Council of New Jersey is a non-profit association dedicated to cultivating an environment supportive of the advancement of research and development throughout New Jersey. The Thomas Alva Edison Patent Awards commemorate the inventive spirit of the man who received more U.S. patents than any other single person and are presented annually to recognize and encourage the technological creativity and leadership of New Jersey's research and development community.

In this study, 10 % (12 out of 118) patients with sporadic autism showed a significant copy number variant (CNV). Only 2% of patients with a affected first degree relative (2 out of 77) and 1% of control patients (2 out of 196) had CNV's.

This study relied on a new technology for the evaluation of quantitative changes in the genome. The technique, called comparative genomic hybridization, is a microarray based method using a large number of probes (~40- 250,000) to find changes such as deletions and duplications. The technique has a far greater sensitivity than traditional karyotyping.

The CNV's found in the autism group were both deletions and duplications ranging is size from 99 kilobases (kb) to more than 12 megabases (Mb). While there were several regions with repeat results (2q37, 3 p14, 20p13), the remainder were spread over a variety of chromosomes and regions.

The results are compelling evidence for this type of genetic change as being a major cause of autism spectrum disorder. However additional studies will be required before we can fully understand the implication of these finding in clinical evaluation and care of patients.