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...

To celebrate South African Women’s Day this year, I wanted to highlight two crucial cancer screening procedures that can save lives!...

Did you know that humans have different types of earwax? Yup, the stuff generally comes in two varieties. Wet and dry. Human earwax type...

So, you have probably heard of colour blindness before. If not, here is a quick recap. Colour blindness is a genetic condition that...

Biotechnology is the use of living organisms, cells, or their molecules to create new products, processes, and technologies that benefit...

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...

Have you ever wondered how we know what genes “look” like? Genes are like instructions, spelt using a code of nucleotides (A, C, G, and...

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...

I briefly mentioned breast cancer in my previous post about colon cancer. Still, as I am sure you will agree, breast cancer deserves its...