As a genetic counsellor, I’ve witnessed firsthand the transformative power of genetic carrier screening in empowering individuals to make informed decisions about their reproductive health. With recent developments in healthcare, particularly in Australia where Medicare-funded genetic carrier screening has become available for the three genetic conditions cystic fibrosis, spinal muscular atrophy (SMA), and fragile X […]
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that manifests in early childhood, impacting communication, social interaction, and behaviour. Whilst the exact causes of autism remain multifaceted and not fully understood, research suggests a significant genetic component. Clinical genetic testing and genetic counselling may be able to play pivotal roles in unraveling the genetic […]
As March unfolds, it brings with it a significant opportunity to celebrate the indelible mark women have left on history. In the realm of science, particularly genetics, the narrative often highlights the achievements of male figures. Yet, it is crucial to acknowledge the pivotal role women have played in shaping our understanding of genetics. One […]
In the realm of healthcare, few fields hold as much promise and potential for revolution as clinical genetics. Over the past few decades, our understanding of genetics has evolved at an astounding pace, unlocking insights into the causes of diseases and paving the way for personalised treatments. At the forefront of this progress is artificial […]
In the realm of pop culture royalty, few families have left an indelible mark quite like the Kardashians. Known for their glamorous lifestyles, business empires, and, of course, their reality TV dominance, the Kardashian family tree is a fascinating tapestry woven with triumphs, controversies, and an undeniable flair for the spotlight. At the roots of […]
Last month I had to drop my doodle Banjo at JFK International airport in New York City for the start of his journey to Melbourne, Australia. John F Kennedy or JFK was a president of the United States, and has this airport named after him, but he is also often referred to as part of […]
Hello from sunny Glasgow, Scotland! My name is Matt, and I am a genetic counsellor at TrakGene. Each month I hope to write a post about a famous person and include a copy of their family tree or pedigree. Today is the last day of the European Society of Human Genetics educational conference and I […]
Hi! My name is Matt, and I am one of the genetic counsellors working at TrakGene. I’m an Aussie guy, born in Sydney, and I grew up 150km to the north in Newcastle where I also completed my genetic counselling training. I have worked clinically in Sydney and Melbourne, and for the past four or […]
Introduction A genetic pedigree chart drawing tool is a powerful tool for identifying inherited diseases. It is a graphical representation of a family tree that shows the relationships between family members and their genetic traits. It can be used to identify inherited diseases, such as cystic fibrosis, Huntington’s disease, and sickle cell anemia. The pedigree […]
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