As a Clinical Geneticist, Dr Noelia Nunez Martinez provides assessment, genetic counselling, and genetic testing for individuals with a personal or family history of a known or suspected genetic condition.
Genetic conditions are due to changes (variants) in our genes which disrupt the way they function. There are over 7000 rare conditions of which more than 80% are thought to be genetic. Understanding if there may be a genetic condition in yourself, your child or your family can provide diagnostic clarity, optimise management and inform family planning. Noelia also provides counselling to couples who are planning a pregnancy.
Noelia has an interest in paediatric rare disease, intellectual disability, congenital anomalies, and is passionate about using genetic information to inform the broader family. Noelia is keen to work towards improving the health of all children.
The following links provide helpful information about genetics and genetic testing:
• https://www.genetics.edu.au/SitePages/Home.aspx
• https://www.australiangenomics.org.au/
• https://www.youtube.com/watch?v=Z3mQCcb6oas
• https://geneequal.com/