genetic disorder – Impact Lab

Victoria Gray, 34, of Forest, Miss., volunteered for one of the most anticipated medical experiments in decades: the first attempt to use the gene-editing technique CRISPR to treat a genetic disorder in the U.S.

For the first time, doctors in the U.S. have used the powerful gene-editing technique CRISPR to try to treat a patient with a genetic disorder.

“It is just amazing how far things have come,” says Victoria Gray, 34, of Forest, Miss. “It is wonderful,” she told NPR in an exclusive interview after undergoing the landmark treatment for sickle cell disease.

Gray is the first patient ever to be publicly identified as being involved in a study testing the use of CRISPR for a genetic disease.

Continue reading… “In a 1st, doctors in U.S. use CRISPR tool to treat patient with genetic disorder”

Facial recognition can help unlock your phone. Could it also be able to play a far more valuable role in people’s lives by identifying whether or not a person has a rare genetic disorder, based exclusively on their facial features? DeepGestalt, an artificial intelligence built by the Boston-based tech company FDNA, suggests that the answer is a resounding “yes.”

The algorithm is already being used by leading geneticists at more than 2,000 sites in upward of 130 countries around the world. In a new study, published in the journal Nature Medicine, researchers show how the algorithm was able to outperform clinicians when it came to identifying diseases.

The study involved 17,000 kids with 200-plus genetic disorders. Its best performance came in distinguishing between different subtypes of a genetic disorder called Noonan syndrome, one of whose symptoms includes mildly unusual facial features. The A.I. was able to make the correct distinction 64 percent of the time. That is far from perfect, but it is significantly better than human clinicians, who identified Noonan syndrome correctly in just 20 percent of cases.

Continue reading… “Face-scanning A.I. can help doctors spot unusual genetic disorders”