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Mother Emily Shepard leads the way for kids losing their sight and hearing to a little-known genetic condition with no cure. “Why would you want to know?” I’d asked our ophthalmologist when she thought my son, Louis, then three, might lose his sight. He’d been diagnosed with...

Prader Willi, Angelman and Dup15q syndromes leave a devastating effect on families. Early diagnosis for these disorders can now be tested through screening at birth. Research at a Glance: A Melbourne-led study has found a new test designed to simultaneously screen newborns for three rare genetic...