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NIH Awards $5M for Mount Sinai Study of Vocal Cord Disorder Biomarkers

NEW YORK (GenomeWeb News) – Scientists at the Icahn School of Medicine at Mount Sinai will use $5 million in funding from the National Institute on Deafness and Other Communication Disorders to correlate genetic factors and brain structure to identify, diagnose, and treat a vocal cord disorder that impairs speech.

The researchers are focused on understanding spasmodic dysphonia, a disorder arising in mid-life that causes interruptions in speech and can cause the voice to break up or sound strained but does not damage vocal cords or the throat.

Not much is known about the causes or biology of SD, and current treatment is limited to simply managing the disorder with botulinum toxin shots into the voicebox muscles; a treatment that does not work for everyone and causes a complete loss of voice for some time.

"Spasmodic dysphonia can have a terrible impact on quality of life, often causing emotional stress, social embarrassment, isolation, and even loss of employment," Mount Sinai's Kristina Simonyan, an associate professor of neurology and otolaryngology, said in a statement. "A better understanding of the disease and how to treat it is desperately needed to help us find a cure, rather than only treating the symptoms of it."

Simonyan will lead the project, which will combine next-generation whole-exome sequencing with high-resolution brain imaging to search for brain abnormalities and genetic variations in 240 patients who have different types of SD. Simonyan's lab also will study how people with SD perceive and process sensory stimulation – lights, smells, and sounds – and how they integrate that information with motor control and speech.

Her team hopes that by studying the interactions between all of these traits, including brain organization, genetic susceptibility and risk factors, sensory input and motor output, they will be able to identify diagnostic biomarkers for SD.

Such biomarkers could be used to prevent misdiagnoses, to detect and evaluate SD patients, and to identify people who may be at risk of developing this disorder.

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