Group at new Mount Sinai center aims to provide diagnosis to those living with rare diseases

In observance of Rare Disease Day, a new effort is underway to finally provide answers to the estimated 300 million people living with rare conditions who are searching for a diagnosis.

The new Mount Sinai Center for Undiagnosed Diseases is a federally funded group that is working to be the detective of medicine

Co-director Dr. Bruce Gelb says they use genetic testing to diagnose what is considered undiagnosable.

"We know that rare diseases overall are something like three percent of the population, only a fraction of those people actually know what they have," he said.

Dr. Bruce Gelb believes the group could solve a third of the cases they review.