Harvard doc says neonatal DNA tests could save young lives

Tuesday, March 26, 2019 - 14:30 in Health & Medicine

A few months ago, Lisa Diller saw a family she has treated for years in her cancer clinic. Their story is one of tragedy, and of hope. The mother had an eye removed out of medical necessity at the age of 2, but knew little about the details of her condition. Years later, her 2-year-old son developed a rare and aggressive form of cancer — retinoblastoma — that involves the uncontrolled growth of immature cells in the retina. By the age of 5 he was blind. The devastating disease in mother and son was caused by a genetic mutation in the RB1 tumor suppressor gene that, when unaffected, maintains normal cell division. The information proved invaluable for the family’s second child, whose blood DNA test revealed she too was a carrier of the malformed gene. Armed with that knowledge, doctors examined her eyes more regularly and treated her with laser therapy...

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