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Genetic tests help in diagnosing babies with unknown ailments

| | September 28, 2017

Within hours of entering the world, little Sebastiana Manuel’s entire body froze in a rigid spasm. Her neck twisted, her face turned blue, and one side of her body stiffened as if someone were yanking her violently.

Dr. Stephen Kingsmore launched a genomics institute at [Rady Children’s Hospital] designed to help babies like her. From any infant younger than 4 months who has a sickness that can’t be explained, Kingsmore’s team takes a vial of blood to run a genetic test. Within days, they sequence the entire genome of the baby.

Sebastiana’s DNA told him that an antiseizure drug different from those that doctors normally use–one that is rarely used in infants–would be more effective at treating her seizures. […]Once he made the switch, she became more alert, responding to her parents and eating as any healthy infant would. And her seizures stopped.

If Kingsmore gets his way, mapping the DNA of these babies will one day be as standard as ordering a blood test. These infants often carry the answer to their own mystery illnesses in their very DNA; it’s just a matter of recognizing and reading the genetic clues.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Genetic Testing Is Providing New Hope for Babies Born with Mysterious Ailments

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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