New mutations are good too!
19 September 2026
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In medical genetics, we tend to think that spontaneous (random or de novo) mutations in pregnancy are “bad” things, leading to disease. We loose site
In medical genetics, we tend to think that spontaneous (random or de novo) mutations in pregnancy are “bad” things, leading to disease. We loose site
Good to see public debate emerging on this exciting topic. Unless the public is accepting, then genomic newborn screening has little chance of success.
Planning for genetic testing can be an emotional journey filled with anticipation, uncertainty and a range of complex emotions. Whether individuals are considering genetic testing
About 80% of rare diseases are genetic (source: Department of Health and Aged Care). In addition, genetic conditions affect a significant number of children and
Ever wonder why medication seems to work wonders for one person while leaving another feeling worse? This frustrating variability has long puzzled medical professionals. However,
Clinical genetics and genetic counselling provide vital information and support to individuals and families with a known or suspected genetic condition. Clinical genetics helps people