Did you know that genetics plays a substantial role in the development of pancreatic diseases, including pancreatic cancer? While anyone can be affected, individuals with certain genetic mutations may be at a higher risk. That’s where genetic testing comes in! 🧬 Genetic testing allows us to identify hereditary mutations linked to pancreatic cancer, such as those in the BRCA2, PALB2, and ATM genes. Knowing your genetic status can empower you to take preventative measures and

As Breast Cancer Awareness Month comes to an end today, I wanted to highlight the importance of ongoing awareness. I attended several breast cancer events this month, including the @iloveboobies_za Secret Swim in Howick, and was inspired by the overwhelming feeling of support, community, and determination 💗 Breast cancer isn’t just about good or bad luck; family history and genetics play a crucial role in assessing risk. Hereditary breast cancer involves genes like BRCA1, B

On the last day of February, the world celebrates Rare Disease Day, highlighting the challenges millions face. With >7,000 rare diseases impacting ±400 million people globally, awareness & support are critical. Rare diseases can lead to significant health challenges, & they often remain undiagnosed or misdiagnosed. Although not all rare diseases are genetic, genetic testing allows healthcare providers to try to identify genetic changes responsible for these disorders, offerin

We all know that as we age, our eyesight can deteriorate, leading to vision loss (and needing glasses). However, as you can expect, genetics can also play a role in this process. Certain genes have been associated with vision loss, including those involved in developing and maintaining the retina (the part of the eye responsible for detecting light and colour). One such gene is the ABCA4  gene, which codes for a protein involved in transporting waste products out of the retin

Drug metabolism is a fascinating topic that has captivated scientists for years. It refers to the way in which our bodies process drugs,...

Gregor Mendel is a name that is synonymous with genetics and heredity. Born in 1822 in the Austrian Empire, Mendel was a monk and...

The field of genetics is relatively young, and we have come a long way since Mendel and his famous peas in the 1860s. It would take...

Family history taking is one of the first things to happen in a genetic counselling session. This is not because the genetic counsellor...

They are two commonly used techniques in genomics to analyse genetic information. WES is a targeted sequencing approach focusing on only...

If you are like me and have people in your life that create a fuss about cilantro/coriander (they know who they are). You might also...

Genetic metabolic disorders are inherited conditions caused by harmful changes in enzymes or metabolic pathways that affect the body's...

I recently attended an exciting workshop on newborn screening. The presenters discussed the benefits and obstacles of implementing...

I recently attended the International Conference of Human Genetics (ICHG), which was held in Cape Town! I learnt so much about various...

Last year I wrote a piece on Sickle Cell Disease (SCD) for World SCD Day. Now, I am writing about some exciting research progress in gene...

High-grade serious ovarian carcinoma (HGSOC) is a type of ovarian cancer and is the 5th leading cause of cancer-related deaths in females...

This post is about a topic close to my heart, Genetic Counselling (GC). It is more personal than some of my other posts because I am a...

disease is a degenerative disease that affects the brain & causes dementia. Alzheimer’s mostly appears in people 65+, but sometimes it...