Medical College of Wisconsin awarded $2.5 million grant

The Medical College of Wisconsin center that read a young boy's genetic script and diagnosed his mysterious disease, ushering in a new era of medicine, has won a $2.5 million grant to analyze the genes of patients with undiagnosed diseases.

Under the four-year grant from the National Institutes of Health, the college's Human and Molecular Genetics Center will collaborate with Illumina Inc. to sequence the genomes of 1,650 patients and their families a project that could answer a crucial question hanging over genetic medicine.

The award, the Medical College's first major sequencing grant after several unsuccessful attempts, will examine whether it makes more sense to search for diagnoses by scanning a major part of the genome, called the exome, or to expand the search to the full genome.

"That's a question that's on a lot of people's minds right now," said Anastasia Wise, program director overseeing the NIH grant the Medical College was awarded.

When Nic Volker, then 4 years old, had his genes sequenced in 2009, the Medical College and Children's Hospital of Wisconsin focused on a little more than 1% of the genome, the exome, which contains the recipes for making proteins. Since many diseases are caused by the failure to make proteins correctly, scientists thought exome sequencing was the most efficient way to diagnose patients.

However, since the breakthrough that pinned down the cause of Volker's intestinal illness and saved his life, the cost of sequencing the full genome, all 3.2 billion chemical bases, has dropped considerably. The chemical bases, adenine, guanine, thymine and cytosine, each one reduced to a letter (A, G, T and C), stretch out like 3.2 billion rungs on a ladder to form our genetic makeup everything from the color of our eyes and hair to our risks of different diseases.

Before Volker's sequence was read, scientists at the Medical College estimated that reading the genome could cost up to $2 million; as it turned out targeting only the exome reduced the cost to about $75,000.

Today, sequencing centers read a genome for about $2,000 to $3,000 and an exome for $500 to $1,000, Wise said.

At the Medical College, three of the nine patients diagnosed using genome sequencing could not have been diagnosed with the exome method, according Howard Jacob, director of the human and molecular genetics center.

The new grant "will directly test if whole genome sequencing makes more diagnoses than exome sequencing," Jacob said. "We're hypothesizing a 25% greater diagnostic rate with genome than with exome sequencing."

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Medical College of Wisconsin awarded $2.5 million grant