$11 Million grant makes Yale a national center for study of rare diseases

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DNA sequencing for Yale's Center for the Study of Mendelian Disorders will be done at the Center for Genome Analysis at West Campus. (Photo by Michael Marsland)

Yale University will be home to one of three national centers created to study the genetics of rare inherited diseases, thanks to a $48 million grant from the National Institutes of Health, federal officials announced Dec. 6.

Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare diseases – each afflicting fewer than 200,000 Americans but collectively more than 25 million individuals in this country alone.

At Yale, the Center for the Study of Mendelian Disorders, which refers to diseases caused by inherited mutations of a single gene, will receive $11.2 million under the four-year program. DNA sequencing for this project will be performed at the recently established Center for Genome Analysis at Yale’s West Campus.

The new center will not only help pinpoint genetic causes and potential treatments for the rare disorders, but also will shed light on common diseases as well, said Richard Lifton, Sterling Professor and chair of the Department of Genetics, one of the principal investigators of the NIH grant.

The other principal investigators for the project are Murat Gunel, the Nixdorff-German Professor of Neurosurgery and professor of genetics and neurobiology; Shrikant Mane, senior research scientists in genetics; and Mark Gerstein, the Albert L. Williams Professor of Molecular Biophysics and Biochemistry.

“Many of the most promising therapeutic targets in development for the treatment and prevention of diseases ranging from Alzheimer’s to cardiovascular disease were identified from rare Mendelian traits,” said Lifton, who is also an investigator for the Howard Hughes Medical Institute. “Dramatic improvements in DNA sequencing developed and implemented here at Yale now permit rapid progress in defining and solving thousands of additional Mendelian diseases, and we are thrilled to contribute to this national effort.”

The centers will join the International Rare Disease Research Consortium, which has a goal of developing new ways to diagnose and treat 200 disorders by 2020. The centers have already collected thousands of DNA samples from several hundred people suffering from rare disorders. The project will engage clinical faculty, patients, and families at Yale and around the world to determine the inherited basis of these diseases.

The grants to study Mendelian disorders were made by the National Human Genome Research Institute and National Heart Lung and Blood Institute.

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Bill Hathaway: william.hathaway@yale.edu, 203-432-1322