You are here: vision-research.eu » News » Newsdetails:

The flip side of personal genomics: When a mutation doesn't spell disease

What started as a summer science project soon turned into a family medical crisis for geneticist Heidi Rehm.

In July, she ordered a test to sequence her 14-year-old daughter’s DNA, hoping to find a genetic explanation for why one of the girl’s adult teeth hadn’t emerged. Instead, mother and daughter found that they both carried a genetic mutation linked to dilated cardiomyopathy — a heart-muscle abnormality that can lead to sudden death, especially in adults.