Born prematurely, Lillian Yuska struggled to feed, and she suffered from chronic gastrointestinal problems and repeated infections. After years of shuttling her from specialist to specialist, Lillian’s parents turned to cutting-edge technology: They had their daughter’s genetic code mapped. This genomic sequencing, which began when Lillian was 4, revealed that she had tricho-hepato-enteric syndrome-2, a condition caused by a gene mutation that disrupts gut function and immunity. Only six other children worldwide are known to have the condition.
Families dealing with rare genetic disorders will be the first beneficiaries of genome sequencing. But researchers say the technique may one day help find clues to such common conditions as heart disease and diabetes, which may also be triggered by rare mutations.
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Read the full, original story: Sequencing genes can pinpoint rare illnesses. Might it also help with other problems?
