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MED-EL - Implant Experience - August 2023

Boys Town National Research Hospital Launches New Attack On Deafness - Acquires Breakthrough Genetic Analysis System To Pursu

WAVE® System from Transgenomic to be the Centerpiece of Genetic Research at the New Center for the Study and Treatment of Usher Syndrome

OMAHA, Neb.- Boys Town National Research Hospital and Transgenomic, Inc. (Nasdaq: TBIO) announced today the hospital has purchased a WAVE® System from Transgenomic for genetic analysis to identify mutations that cause deafness. The WAVE System will be integral in the research of genetic causes of Usher Syndrome, a major cause of deafness. This research will be conducted at the National Center for the Treatment of Usher Syndrome at the hospital.

The WAVE System analyzes both known and unknown genetic mutations with greater sensitivity, accuracy, speed and cost-effectiveness than other techniques. Understanding variations in the genetic code is the vital link to the development of new medical diagnostic and therapeutic products. While individual traits, such as hair and eye color, are determined by normal genetic variations, abnormal variations or mutations can create disease states such as hereditary cystic fibrosis, deafness or cancer. By comparing mutations in the genome to the occurrence of diseases or particular traits, correlation can be made between genes and specific diseases or traits.

'Now that we know which genes are involved in hearing disorders, the focus of our research is shifting to the identification of the specific mutations that result in neurosensory hearing loss,' said William Kimberling, Ph.D., director, National Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital. 'The WAVE System is especially important because it is the only technology capable of finding novel variations, or mutations we don't know exist. This is a crucial step because the development and testing of therapies cannot begin until these mutations are identified.'

Usher Syndrome is a genetic disorder that accounts for an estimated 50 percent of all deaf-blind individuals in the U.S. Between 30,000 and 40,000 Americans suffer from Usher Syndrome, and as many as 30 million people may carry a gene for a subtype of the disorder. Usher Syndrome is caused by autosomal recessive genes, meaning that each parent has one normal and one Usher gene and each gives the affected child the Usher gene. Currently, there is no cure for the disorder.

Researchers at Boys Town Hospital plan to use the WAVE System to develop a testing algorithm that can be expanded into a national screening program for hearing impairment. The first step will be to use the WAVE System to identify new and rare mutations that result in deafness and then develop tools to rapidly screen large segments of the population.

According to Dr. Kimberling, the key to effective treatment and prevention of related health concerns will be newborn screening. 'About two-thirds of the states have mandatory deafness screening programs for newborns. Our goal is to identify all the major mutations and develop a screening strategy that can be turned over to Public Health officials for widespread implementation. We believe an aggressive and effective screening program can have a dramatic impact on the treatment and prevention of hearing loss.'

'Early discovery of genetic mutations associated with deafness can have a significant impact on a child's future,' said Collin D'Silva, CEO, Transgenomic. 'It is extremely gratifying that the WAVE System will be the foundation to a national effort to develop screening and treatment programs to reduce the impact of deafness in this country.'

The WAVE System Technology

As efforts to sequence and annotate the human genome near completion, the WAVE System, unlike more conventional technologies, can detect genetic mutations without previous knowledge of their existence or position. As a result, the WAVE System provides researchers with a more accurate and efficient means of performing the experiments necessary to identify mutations and to correlate the relationships between mutations and diseases. Principal application areas include genetic mutation screening and detection and new paths in microbial, pharmaceutical, biotechnology, forensic, plant and animal research.

Since its introduction in late 1997, the WAVE System has been utilized extensively by leading research institutions worldwide. Today, WAVE Systems are used in leading genomic, academic, medical and biopharmaceutical research institutions worldwide, including: Harvard University, Stanford University, Baylor College of Medicine, University of Chicago, Fred Hutchison Cancer Facility, Mayo Clinic, National Cancer Institute, National Institutes of Health, Institut Curie, University of Cambridge, Wellcome Trust-Oxford University, Institut Gustave Roussy, SmithKline Beecham, Bristol-Meyers Squibb, Millennium Pharmaceuticals, Merck & Company, Novartis and Eli Lilly & Company.

The WAVE System, utilizing the method of DHPLC (denaturing high-performance liquid chromatography), analyzes previously identified genes for both known and unknown genetic variations, changes or mutations. Mutations identified by DHPLC may provide researchers with critical information about the cause, onset and progression of certain diseases.

Scanning for mutations in genes with the WAVE System relies on the specific binding of complementary strands to form a DNA double helix. If a mutation in a gene exists, a DNA heteroduplex (pairing of not fully complementary strands) is formed and the binding is less 'tight.' High temperatures can be used to denature (melt) the DNA double helix. If a mutation exists, the melting temperature of the heteroduplex will be lower than that of the homoduplex. Partially melted DNA can be easily separated from unmelted DNA homoduplexes (pairings of fully complementary strands) containing no mutation. This method of denaturing the DNA double helix is sensitive, fast, accurate and inexpensive when compared to DNA sequencing.

If the WAVE System screening detects a variation, researchers will often use traditional DNA sequencing to understand the mutation in more detail. Using the WAVE System in advance of DNA screening can help eliminate unnecessary, detailed analysis on DNA without mutations, saving time and money.

About Boys Town National Research Hospital

Boys Town National Research Hospital in Omaha, Neb., is recognized internationally as a leader in communication disorders research and as a referral center for children with disorders of the ear, hearing and balance, cleft lip and palate, speech and voice. Hospital senior staff also provide leadership for a national otolaryngology (ear, nose and throat) clinical trials cooperative group. The hospital is accredited by the Joint Commission on Accreditation of Healthcare Organizations (JCAHO).

Last year, nearly 28,000 children from across the country found help at Boys Town National Research Hospital. Thousands of Omaha-area children from infants to teens also visit Boys Town Pediatrics' physicians at seven metropolitan area clinics each year.

About Transgenomic

Transgenomic is headquartered in Omaha, Neb., and has offices in the United States, Europe and Japan. Major research and development facilities are located in San Jose, Calif., and Crewe, Cheshire, United Kingdom. The company provides innovative research tools to the genomics segment of the life sciences industry. These tools enable researchers to discover and understand variation in the human genetic code, or genome, in order to accelerate and improve drug development and diagnostics.

For confirmation of release or further information contact: Jackie Madara-Campbell, J.D.
Director of Omaha Public Relations
Girls and Boys Town
402-498-1300 (Office)
402-778-0659 (Home) Chris K. Joseph
For Transgenomic, Inc.
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