NEW YORK – Mount Sinai Health said on Tuesday that it has launched a new Center for Undiagnosed Diseases with the help of a four-year, $3.3 million grant from the National Institutes of Health.
The funding, from the NIH Common Fund and the National Institute of Neurological Disorders and Stroke, will help establish the first Undiagnosed Diseases Network site in the New York area. Principal investigators Bruce Gelb and Manisha Balwani will use genomic approaches to diagnose both children and adults with genetic diseases.
"With our new center, we aim to shed light on diseases that are not well recognized due to low incidence, document new diseases that will hopefully lead to cures, and uncover rare variations of more common diseases," Balwani said in a statement.
In its grant abstract, Mount Sinai said it will analyze exome, genome, and RNA-seq data for unsolved cases. The center also plans to undertake "research-based characterization" of patients with immunological disorders. "We will perform extensive immune profiling of participants prioritized as more likely to have single-gene disorders of the immune system in order to drive understanding of trait pathogenesis. For adult patients likely to have traits with somatic gene variants, we will undertake deep sequencing to detect mosaicism," the researchers wrote.
The NIH launched the Undiagnosed Diseases Network in 2014 with $43 million to fund six centers across the US and "has facilitated difficult diagnoses for more than 650 people nationwide in the past decade," according to Mount Sinai.
"There are approximately 25 million Americans who suffer from a rare disorder," Gelb said in a statement. "We hope this program will end diagnostic odysseys and inform meaningful therapies for these traits. We also hope this work will increase awareness among physicians in the Mount Sinai Health System about the utility of genomic medicine."