Families Isolated by Rare Genetic Conditions Find New Ways to Reach Out
June 6, 2016
(NPR) – If KDM1A is indeed the culprit, Milo has what’s known as a Mendelian disorder — a rare condition caused by a genetic mutation, typically in a single gene. There are some 7,000 to 8,000 Mendelian conditions known, but researchers have found the specific genetic cause for only half. The rest are categorized as Mendelian because they are transmitted from parents to children in ways suggesting they are caused by mutations in single genes. In some cases — and researchers say Milo’s appears to be one of them — a new mutation reveals a condition that’s never been identified before. There is no treatment for his condition.