For some families, the long wait for a diagnosis ends early — but that moment can be as confronting as it is clarifying. In Part 2, Clinical geneticist Dr Susan White explores what happens when a label finally arrives, and how parents and children learn to...
Each year, thousands of babies are born with congenital anomalies — structural or functional differences that can affect development. While modern medicine has advanced dramatically, many families still face the uncertainty of a child’s undiagnosed condition. In Part 1, Clinical geneticist Dr Susan White reflects on...
Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, report David Stroud, Dr Daniella Hock and David Thorburn In its standard definition, the word...
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...
The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found. The research, led by the Murdoch Children’s Research Institute (MCRI), supports the addition of Fragile...
