03:45pm Friday 29 May 2020

New Jersey Medical School Researchers Develop DNA Sequencing Tests for Hereditary Diseases

Officials at the New Jersey Department of Health approved the use of the new Cystic Fibrosis (CF) Carrier and Diagnosis Test, which was created at the Institute for Genomic Medicine at UMDNJ-NJMS. Using a semiconductor mechanism that was developed by San Francisco-based Ion Torrent, the microchip tests the entire gene for mutations. IGM now offers this certified Clinical Diagnostic Laboratory service for hospitals as well as obstetrics and gynecology practices throughout the Garden State.

According to the Cystic Fibrosis Foundation web site, “More than 10 million Americans are symptomless carriers of the defective CF gene.” This chronic disease impacts the lungs and the digestive system. It occurs when a child inherits one defective CF gene from each parent.

“We believe the adaptation of this new sequencing technology will drastically improve our ability to analyze genetic disorders,” said Marvin N. Schwalb, PhD, director of the Institute for Genomic Medicine. “Traditional CF sequencing testing costs thousands of dollars making the test unavailable for carrier screening. This new test costs less than $200. Most importantly, the genetic carrier test we developed improves the diagnosis rate to 98 percent. While the test provides significant improvement for all populations, the improved rate is particularly valuable for minorities because current carrier screening methods only detects approximately 65% of mutations in these populations.”

The new technology provides many advances including the ability to test as many as 96 samples on a single platform and the fact that the equipment cost 1/10 as much as the previous technology.

IGM has developed another test, which was also approved by the NJHSS, for mitochondrial DNA. Mutations in mitochondria cause a wide variety of diseases, such eye and neuromuscular system disorders and possible cancer.

Schwalb, a professor of Pediatrics, Microbiology and Molecular Genetics at NJMS, said, “We are proud of the fact that the IGM is a world leader in the advancement of genetic diagnosis. DNA sequencing will keep us very busy for a while. In the state of New Jersey, there is nothing that compares to this advancement and this is just the beginning.”

To arrange an interview with Dr. Marvin Schwalb, contact Kaylyn Kendall Dines at 973-972-1216.

About New Jersey Medical School:

Founded in 1954 as the Seton Hall College of Medicine and Dentistry, UMDNJ—New Jersey Medical School was the state’s first medical school. Today, it is part of the University of Medicine and Dentistry of New Jersey. NJMS has four mission areas: education, research, clinical care, and community outreach. It has 22 academic departments and more than 60 centers and institutes. In addition to offering the MD degree to its students, NJMS also offers, MD/PhD, MD/MPH, and MD/MBA degrees through collaborations with other institutions of higher education.

About the Institute for Genomic Medicine (IGM) at NJMS:

The Institute for Genomic Medicine at New Jersey Medical School was created 21 years ago to provide leadership in the field of molecular genetics. IGM remains the largest provider of clinical genetic services in the State of New Jersey. In addition to IGM’s general clinic, additional specialty areas include: craniofacial, Sickle Cell, neurogenetics, and metabolic disorders.

Name: Kaylyn Dines
Phone: 973-972-1216
Email: [email protected]

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