Cara Greene, a toddler from North Carolina, began losing strength in her arms and limbs at the age of 15 months. In a matter of months, she lost her ability to walk, feed herself, and pick up even the smallest of toys. Doctors were unable to identify the cause of her illness or find a way to stop it from progressing.
Dr. Goldstein’s team uses genomic sequencing to identify unique or rare genetic mutations in an individual’s DNA—information that can unmask the cause of a previously unknown disease.
Cara’s analysis—conducted when Dr. Goldstein was at Duke University—revealed that she had a rare gene mutation that impaired her ability to utilize vitamin B2. As a result, she had a severe vitamin B2 deficiency that weakened her muscles. The deficiency was easily reversed with high doses of oral vitamin B2 supplements.
Cara’s story was recently aired during “Good Morning America” and is part of a five-part video series about precision medicine called Path to a Breakthrough, presented by WebMD and Robin Roberts, producer of Rock ‘n Robin Productions. See the video here.