Sequencing/Genetics

(Image courtesy of Shutterstock)

Researchers at the Yale Center for Genome Analysis at Yale West Campus have pioneered the field of exome sequencing, or sequencing the DNA that codes for proteins. The center was one of the first in the world to acquire a benchtop DNA sequencer capable of sequencing the entire human genome within 24 hours. Yale researchers are using this sequencing technology to discover new genes and biochemical mechanisms behind a host of diseases, including cardiovascular disease, cancer, autism and rare diseases. The Yale Center for Mendelian Genomics is one of just three national centers created by the National Institutes of Health to study the genetics of rare inherited diseases—specifically to analyze the genomes of thousands of patients suffering from more than 6,000 single gene or Mendelian disorders, including autism, bone deformities, congenital heart disease, mental retardation, neurodegenerative disease, schizophrenia and seizures. By using new sequencing technology to discover the genetic changes that cause these disorders, Yale researchers are uncovering new diagnosis and treatment options.