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Blugold scientist leads team to solve deadly DNA mystery

| Judy Berthiaume

Researchers at Mayo Clinic have solved a 16-year-old medical mystery surrounding the deaths of four young Amish sisters, a discovery that has put a Blugold in the national spotlight.

Dave Tester, who earned a bachelor’s degree in biochemistry/molecular biology from UW-Eau Claire in 1992, is the lead scientist on the case, which was reported in the journal JAMA Cardiology.

In 1994, a 12-year-old Amish girl collapsed while running around during play. Her heart showed no structural abnormalities, leaving the local medical examiner perplexed. A few months later, her sister died in much the same way. In the years after, two more of her sisters also died while at play.

The medical examiner saved the girls’ DNA, forwarding it to the Windland Smith Rice Genetic Heart Rhythm Clinic at Mayo Clinic, home of the molecular autopsy team within the Windland Smith Rice Sudden Death Genomics Laboratory.

The Mayo Clinic scientists were stuck for many years but never forgot the young girls.

When new technologies became available, the Mayo team, with Tester as the lead scientist, restarted the search for an answer.

Eventually, the Blugold — with the help of his colleagues — identified a mutation that appears to be unique to the Amish community.

Mayo Clinic quickly developed a test to determine if others in the family have the highly lethal mutation.

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